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href="https://www.academia.edu/106792073/Intracytoplasmic_injection_of_spermatozoa_does_not_appear_to_alter_the_mode_of_mitochondrial_DNA_inheritance"><img alt="Research paper thumbnail of Intracytoplasmic injection of spermatozoa does not appear to alter the mode of mitochondrial DNA inheritance" class="work-thumbnail" src="https://attachments.academia-assets.com/105793696/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/106792073/Intracytoplasmic_injection_of_spermatozoa_does_not_appear_to_alter_the_mode_of_mitochondrial_DNA_inheritance">Intracytoplasmic injection of spermatozoa does not appear to alter the mode of mitochondrial DNA inheritance</a></div><div class="wp-workCard_item"><span>Human Reproduction</span><span>, 1998</span></div><div class="wp-workCard_item 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633449]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633449,"title":"Leber's hereditary optic neuropathy prevalent phenotype in a family segregating the G13042A/ND5 mtDNA point 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href="https://www.academia.edu/101633448/Studies_of_human_genetic_history_using_mtDNA_variation"><img alt="Research paper thumbnail of Studies of human genetic history using mtDNA variation" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633448/Studies_of_human_genetic_history_using_mtDNA_variation">Studies of human genetic history using mtDNA variation</a></div><div class="wp-workCard_item"><span>Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics</span><span>, 2005</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Current studies of human mitochondrial DNA have revealed that the dissection of its variation int...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Current studies of human mitochondrial DNA have revealed that the dissection of its variation into smaller and younger subhaplogroups is an essential step in the identification of spatial frequency patterns, and that mass screening of a limited number of markers identified using complete mtDNA sequences is a very efficient strategy for inferring features of human genetic history. Keywords: mitochondrial DNA variation; human origin and evolution; human population genetics; haplogroups; phylogeography; Native American origin; colonization of Europe</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633448"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633448"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633448; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633448]").text(description); $(".js-view-count[data-work-id=101633448]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633448; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633448']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633448, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633448]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633448,"title":"Studies of human genetic history using mtDNA variation","translated_title":"","metadata":{"abstract":"Current studies of human mitochondrial DNA have revealed that the dissection of its variation into smaller and younger subhaplogroups is an essential step in the identification of spatial frequency patterns, and that mass screening of a limited number of markers identified using complete mtDNA sequences is a very efficient strategy for inferring features of human genetic history. Keywords: mitochondrial DNA variation; human origin and evolution; human population genetics; haplogroups; phylogeography; Native American origin; colonization of Europe","publisher":"John Wiley \u0026 Sons, Ltd","publication_date":{"day":null,"month":null,"year":2005,"errors":{}},"publication_name":"Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics"},"translated_abstract":"Current studies of human mitochondrial DNA have revealed that the dissection of its variation into smaller and younger subhaplogroups is an essential step in the identification of spatial frequency patterns, and that mass screening of a limited number of markers identified using complete mtDNA sequences is a very efficient strategy for inferring features of human genetic history. 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We show that mitochondrial DNA variation in isolated “relict” populations in southeast Asia supports the view that there was only a single dispersal from Africa, most likely via a southern coastal route, through India and onward into southeast Asia and Australasia. There was an early offshoot, leading ultimately to the settlement of the Near East and Europe, but the main dispersal from India to Australia ∼65,000 years ago was rapid, most likely taking only a few thousand years.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f9f115c6f8a0414cb56f13c50b34636e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120445,"asset_id":101633447,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120445/download_file?st=MTczMjQ2MzkwMCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633447"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633447"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633447; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633447]").text(description); $(".js-view-count[data-work-id=101633447]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633447; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633447']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633447, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f9f115c6f8a0414cb56f13c50b34636e" } } $('.js-work-strip[data-work-id=101633447]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633447,"title":"Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes","translated_title":"","metadata":{"abstract":"A recent dispersal of modern humans out of Africa is now widely accepted, but the routes taken across Eurasia are still disputed. 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hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633445/The_wolframin_His611Arg_polymorphism_influences_medication_overuse_headache"><img alt="Research paper thumbnail of The wolframin His611Arg polymorphism influences medication overuse headache" class="work-thumbnail" src="https://attachments.academia-assets.com/102120441/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633445/The_wolframin_His611Arg_polymorphism_influences_medication_overuse_headache">The wolframin His611Arg polymorphism influences medication overuse headache</a></div><div class="wp-workCard_item"><span>Neuroscience Letters</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span 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overuse headache","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Homozygosis for wolframin (WFS1) mutations determines Wolfram syndrome (WS), and common polymorphisms of WFS1 are associated with psychiatric illnesses and dependence behaviour. To test the influence of WFS1 polymorphisms on medication overuse headache (MOH), a chronic headache condition related to symptomatic drugs overuse, we analyzed 82 MOH patients for the WFS1 His611Arg polymorphism, and performed a comparison between clinical features of Arg/Arg (R/R) and non-R/R individuals. Individuals harbouring the R/R genotype showed significantly higher monthly drug consumption (t = −3.504; p = 0.00075) and more severe depressive symptoms on the BDI questionnaire (t = −3.048; p = 0.003) than non-R/R. WFS1 polymorphism emerged as the only significant predictor of drug consumption, at the multivariate regression analysis (F = 12.277; d.f. = 1,80; p = 0.00075, adjusted R 2 = 0.122). These results implicate WFS1 in the clinical picture of MOH, may be through an influence on need for drugs as in other conditions of abuse behaviour.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Neuroscience 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class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633444/Mitochondrial_DNA_haplogroups_influence_the_therapeutic_response_to_riboflavin_in_migraineurs">Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d09200dbdd967f50326319191528c808" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120458,"asset_id":101633444,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120458/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span 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}); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633443"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop"><img alt="Research paper thumbnail of Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop">Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop</a></div><div class="wp-workCard_item"><span>Journal of the Neurological Sciences</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia typ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633443"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633443"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633443; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633443]").text(description); $(".js-view-count[data-work-id=101633443]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633443; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633443']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633443, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633443]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633443,"title":"Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop","translated_title":"","metadata":{"abstract":"Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.","publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Journal of the Neurological Sciences"},"translated_abstract":"Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.","internal_url":"https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop","translated_internal_url":"","created_at":"2023-05-11T14:14:09.969-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[],"research_interests":[{"id":6200,"name":"Magnetic Resonance Imaging","url":"https://www.academia.edu/Documents/in/Magnetic_Resonance_Imaging"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":65615,"name":"Cerebellum","url":"https://www.academia.edu/Documents/in/Cerebellum"},{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":99271,"name":"Calcium channels","url":"https://www.academia.edu/Documents/in/Calcium_channels"},{"id":140122,"name":"Calcium Channel","url":"https://www.academia.edu/Documents/in/Calcium_Channel"},{"id":146326,"name":"Cerebellar ataxia","url":"https://www.academia.edu/Documents/in/Cerebellar_ataxia"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":462040,"name":"Acetazolamide","url":"https://www.academia.edu/Documents/in/Acetazolamide"},{"id":584615,"name":"Disease Progression","url":"https://www.academia.edu/Documents/in/Disease_Progression"},{"id":643228,"name":"Ataxia","url":"https://www.academia.edu/Documents/in/Ataxia"},{"id":712544,"name":"Alanine","url":"https://www.academia.edu/Documents/in/Alanine"},{"id":749362,"name":"Channelopathy","url":"https://www.academia.edu/Documents/in/Channelopathy"},{"id":894908,"name":"Amino Acid Substitution Rates","url":"https://www.academia.edu/Documents/in/Amino_Acid_Substitution_Rates"},{"id":1232430,"name":"Genetic Markers","url":"https://www.academia.edu/Documents/in/Genetic_Markers"},{"id":1489115,"name":"Age of Onset","url":"https://www.academia.edu/Documents/in/Age_of_Onset"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis"},{"id":3726714,"name":"Direct sequence","url":"https://www.academia.edu/Documents/in/Direct_sequence"}],"urls":[{"id":31369094,"url":"https://api.elsevier.com/content/article/PII:S0022510X07000342?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633441"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633441/Respiratory_function_in_cybrid_cell_lines_carrying_European_mtDNA_haplogroups_implications_for_Lebers_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy" class="work-thumbnail" src="https://attachments.academia-assets.com/102120446/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633441/Respiratory_function_in_cybrid_cell_lines_carrying_European_mtDNA_haplogroups_implications_for_Lebers_hereditary_optic_neuropathy">Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease</span><span>, 2002</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5c7ce8f9acb2b81da6546f30ec4a1d9e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120446,"asset_id":101633441,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120446/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633441"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633441"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633441; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633441]").text(description); $(".js-view-count[data-work-id=101633441]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633441; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633441']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633441, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect.","publication_date":{"day":null,"month":null,"year":2002,"errors":{}},"publication_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of 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Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[{"id":102120446,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120446/thumbnails/1.jpg","file_name":"82736767.pdf","download_url":"https://www.academia.edu/attachments/102120446/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Respiratory_function_in_cybrid_cell_line.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120446/82736767-libre.pdf?1683840476=\u0026response-content-disposition=attachment%3B+filename%3DRespiratory_function_in_cybrid_cell_line.pdf\u0026Expires=1732440865\u0026Signature=aSAPpNCu~FglUwZhsX4NKIbM-YJKttcK~X5mhGyusNKsB-6KjwZ171C5A8snXinLvuihSBLDo3E5KdYttiO3UKkjoxp38RnyTCsXKjWTFXU2ckNsZnQtRrdzemp0NRiiN1CLtgLZi0ao~cLVjYZL9~cmEV7E8GDRo66cGQX-NlnouRkUIlr4AtoyYeWz-SctYs1vQ6~NsZm6fj~852jxPAPbz~nkoSPwc8U2A2n5JHVVWZZ8iQMQvCMSAmaMpI1KuT0-eemrWPBlemAmpPsvmrfZLy~JB0Qm~Pzsb9L2yRFgcP0xIAlKp84apL4ztaJ8Xc-LTAf8nhRawjbhwhW0Pw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12981,"name":"Enzyme 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Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":321571,"name":"Haplogroup","url":"https://www.academia.edu/Documents/in/Haplogroup"},{"id":328276,"name":"Hybrid Solar Cells","url":"https://www.academia.edu/Documents/in/Hybrid_Solar_Cells"},{"id":957359,"name":"Culture Media","url":"https://www.academia.edu/Documents/in/Culture_Media"},{"id":1193624,"name":"Oxygen Consumption","url":"https://www.academia.edu/Documents/in/Oxygen_Consumption"},{"id":1681026,"name":"Biochemistry and cell biology","url":"https://www.academia.edu/Documents/in/Biochemistry_and_cell_biology"},{"id":1714296,"name":"Cellular system","url":"https://www.academia.edu/Documents/in/Cellular_system"},{"id":3789880,"name":"Medical biochemistry and metabolomics","url":"https://www.academia.edu/Documents/in/Medical_biochemistry_and_metabolomics"}],"urls":[{"id":31369093,"url":"https://api.elsevier.com/content/article/PII:S0925443902000972?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633439"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy">Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Annals of Neurology</span><span>, 2002</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633439"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633439"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633439; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633439]").text(description); $(".js-view-count[data-work-id=101633439]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633439; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633439']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633439, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633439]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633439,"title":"Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy","translated_title":"","metadata":{"abstract":"A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.","publisher":"Wiley","publication_date":{"day":null,"month":null,"year":2002,"errors":{}},"publication_name":"Annals of Neurology"},"translated_abstract":"A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.","internal_url":"https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy","translated_internal_url":"","created_at":"2023-05-11T14:14:09.266-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":316015,"name":"Gen","url":"https://www.academia.edu/Documents/in/Gen"},{"id":382075,"name":"Adult","url":"https://www.academia.edu/Documents/in/Adult"},{"id":710565,"name":"Annals","url":"https://www.academia.edu/Documents/in/Annals"},{"id":1169247,"name":"Optic Neuropathy","url":"https://www.academia.edu/Documents/in/Optic_Neuropathy"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1451232,"name":"Nucleotide","url":"https://www.academia.edu/Documents/in/Nucleotide"},{"id":1597877,"name":"Nucleotides","url":"https://www.academia.edu/Documents/in/Nucleotides"}],"urls":[{"id":31369091,"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.10193"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633438"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633438/Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade"><img alt="Research paper thumbnail of Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade" class="work-thumbnail" src="https://attachments.academia-assets.com/102120436/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633438/Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade">Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade</a></div><div class="wp-workCard_item"><span>Annals of Human Genetics</span><span>, 2001</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="b8b78dc6a821b7dc33e6c295896c6fc4" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120436,"asset_id":101633438,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120436/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633438"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633438"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633438; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "b8b78dc6a821b7dc33e6c295896c6fc4" } } $('.js-work-strip[data-work-id=101633438]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633438,"title":"Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade","translated_title":"","metadata":{"publisher":"Wiley","grobid_abstract":"The mtDNA haplogroup L3e, which is identified by the restriction site j2349 MboI within the Afro-Eurasian superhaplogroup L3 (k3592 HpaI), is omnipresent in Africa but virtually absent in Eurasia (except for neighbouring areas with limited genetic exchange). L3e was hitherto poorly characterised in terms of HVS-I motifs, as the ancestral HVS-I type of L3e cannot be distinguished from the putative HVS-I ancestor of the entire L3 (differing from the CRS by a transition at np 16223). An MboI screening at np 2349 of a large number of Brazilian and Caribbean mtDNAs (encompassing numerous mtDNAs of African ancestry), now reveals that L3e is subdivided into four principal clades, each characterised by a single mutation in HVS-I, with additional support coming from HVS-II and partial RFLP analysis. The apparently oldest of these clades (transition at np 16327) occurs mainly in central Africa and was probably carried to southern Africa with the Bantu expansion(s). The most frequent clade (transition at np 16320) testifies to a pronounced expansion event in the mid-Holocene and seems to be prominent in many Bantu groups from all of Africa. In contrast, one clade (transition at np 16264) is essentially restricted to Atlantic western Africa (including Cabo Verde). We propose a tentative L3e phylogeny that is based on 197 HVS-I sequences. We conclude that haplogroup L3e originated in central or eastern Africa about 46,000 (p14,000) years ago, and was a hitchhiker of much later dispersal and local expansion events, with the rise of food production and iron smelting. Enforced migration of African slaves to the Americas translocated L3e mitochondria, the descendants of which in Brazil and the Caribbean still reflect their different regional African ancestries.","publication_date":{"day":null,"month":null,"year":2001,"errors":{}},"publication_name":"Annals of Human Genetics","grobid_abstract_attachment_id":102120436},"translated_abstract":null,"internal_url":"https://www.academia.edu/101633438/Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade","translated_internal_url":"","created_at":"2023-05-11T14:14:08.887-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":102120436,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120436/thumbnails/1.jpg","file_name":"Bandelt_L3e_AHG2001.pdf","download_url":"https://www.academia.edu/attachments/102120436/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Phylogeography_of_the_human_mitochondria.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120436/Bandelt_L3e_AHG2001-libre.pdf?1683840482=\u0026response-content-disposition=attachment%3B+filename%3DPhylogeography_of_the_human_mitochondria.pdf\u0026Expires=1732440865\u0026Signature=BFKKrp8qUXRtRvTGYalXMZo4EhCxM0bYGqBajcPUQCxbT~E9PekzFYtuINs0PUDSNfYaDyg0CNN1AXj6m9LhMwpm2~KParn4~yuCd4FG8rpZlLy8KcAEkjoMHEwBzSej4B3xMP1z8HM0gsncsTXRo~4WwQR7hkqHLRAEBwuNg-pgXNIYmmknJ0oteMH~ufGWU7zan4Ry7zI-h0-ggguagUQ02TQsEcy7pW8AtSwtmRXQaflqr54nJm2KANlzxc50pilIaiMTyBZUNiixZQRCWFwTHwPFkgLnG5G5ZoE-v-~-y6dFFn~3WfaovE9wPXWT3tuHPDfyyJaXi6RqSzwyJw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara 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History","url":"https://www.academia.edu/Documents/in/Ancient_History"},{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology"},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":4206,"name":"Phylogeography","url":"https://www.academia.edu/Documents/in/Phylogeography"},{"id":4527,"name":"Africa","url":"https://www.academia.edu/Documents/in/Africa"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":9821,"name":"Brazil","url":"https://www.academia.edu/Documents/in/Brazil"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":34817,"name":"Prehistory","url":"https://www.academia.edu/Documents/in/Prehistory"},{"id":53019,"name":"Atlantic Slave Trade","url":"https://www.academia.edu/Documents/in/Atlantic_Slave_Trade"},{"id":54433,"name":"Phylogeny","url":"https://www.academia.edu/Documents/in/Phylogeny"},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes"},{"id":110090,"name":"Bantu languages","url":"https://www.academia.edu/Documents/in/Bantu_languages"},{"id":158597,"name":"Iron","url":"https://www.academia.edu/Documents/in/Iron"},{"id":192986,"name":"Caribbean region","url":"https://www.academia.edu/Documents/in/Caribbean_region"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":292227,"name":"Annals of Human Genetics","url":"https://www.academia.edu/Documents/in/Annals_of_Human_Genetics"},{"id":321571,"name":"Haplogroup","url":"https://www.academia.edu/Documents/in/Haplogroup"},{"id":829156,"name":"Food Products","url":"https://www.academia.edu/Documents/in/Food_Products"}],"urls":[{"id":31369089,"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1469-1809.2001.6560549.x/fullpdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633436"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633436/Identification_of_Native_American_Founder_mtDNAs_Through_the_Analysis_of_Complete_mtDNA_Sequences_Some_Caveats"><img alt="Research paper thumbnail of Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats" class="work-thumbnail" src="https://attachments.academia-assets.com/102120430/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633436/Identification_of_Native_American_Founder_mtDNAs_Through_the_Analysis_of_Complete_mtDNA_Sequences_Some_Caveats">Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats</a></div><div class="wp-workCard_item"><span>Annals of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d2f88dfb14ce3c3114f600fb04e9f32d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120430,"asset_id":101633436,"asset_type":"Work","button_location":"profile"}" 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$(".js-view-count[data-work-id=101633436]").text(description); $(".js-view-count[data-work-id=101633436]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633436; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633436']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633436, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d2f88dfb14ce3c3114f600fb04e9f32d" } } $('.js-work-strip[data-work-id=101633436]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633436,"title":"Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats","translated_title":"","metadata":{"publisher":"Wiley","grobid_abstract":"In this study, a detailed analysis of both previously published and new data was performed to determine whether complete, or almost complete, mtDNA sequences can resolve the long-debated issue of which Asian mtDNAs were founder sequences for the Native American mtDNA pool. Unfortunately, we now know that coding region data and their analysis are not without problems. To obtain and report reasonably correct sequences does not seem to be a trivial task, and to discriminate between Asian and Native American mtDNA ancestries may be more complex than previously believed. It is essential to take into account the effects of mutational hot spots in both the control and coding regions, so that the number of apparent Native American mtDNA founder sequences is not erroneously inflated. As we report here, a careful analysis of all available data indicates that there is very little evidence that more than five founder mtDNA sequences entered Beringia before the Last Glacial Maximum and left their traces in the current Native American mtDNA pool.","publication_date":{"day":null,"month":null,"year":2003,"errors":{}},"publication_name":"Annals of Human 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class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633434/The_ND1_gene_of_complex_I_is_a_mutational_hot_spot_for_Leber_s_hereditary_optic_neuropathy">The ND1 gene of complex I is a mutational hot spot for Leber’s hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>American Journal of Ophthalmology</span><span>, 2005</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9279f639b5a61b4ba2b02694a1e21cff" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120428,"asset_id":101633434,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120428/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa 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data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633433/Extensive_Female_Mediated_Gene_Flow_from_Sub_Saharan_Africa_into_Near_Eastern_Arab_Populations">Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="ab221875d01ca7d6507c5881c30d58e3" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120424,"asset_id":101633433,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120424/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner 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Other Arab populations carried ∼10% lineages of sub-Saharan origin, whereas non-Arab Near Eastern populations, by contrast, carried few or no such lineages, suggesting that gene flow has been preferentially into Arab populations. Several lines of evidence suggest that most of this gene flow probably occurred within the past ∼2,500 years. In contrast, there is little evidence for male-mediated gene flow from sub-Saharan Africa in Ychromosome haplotypes in Arab populations, including the Hadramawt. Taken together, these results are consistent with substantial migration from eastern Africa into Arabia, at least in part as a result of the Arab slave trade, and mainly female assimilation into the Arabian population as a result of miscegenation and manumission. Contacts between eastern Africa and Arabia have existed since the establishment of obsidian exchange networks as early as the 7th millennium B.C. They were stimulated by the growth of the Egyptian state from the 4th millennium onward, with possible settlements of people from Arabia in the Horn of Africa as early as the 3rd and 2nd millennia B.C. The Afro-Arabian Tihama cultural complex, for which an African origin seems most likely, arose in the mid-2nd millennium. In addition to the coastal site of Adulis in Eritrea and sites farther inland in Eritrea, Ethiopia, and Sudan, it is represented on the Saudi coastal plains and the western and southern coasts of Yemen. Other traditions appear to have spread in the opposite direction (Fattovich 1997). Southern Arabs gained control of the Red Sea trade routes in the 12th century B.C., and the first kingdom, Saba, arose in Yemen in ∼800 B.C. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633432"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633432/The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness"><img alt="Research paper thumbnail of The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness" class="work-thumbnail" src="https://attachments.academia-assets.com/102120429/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633432/The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness">The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 1999</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="97554f0be2db4113ce509e2f20e484c5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120429,"asset_id":101633432,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120429/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633432"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633432"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633432; 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Phylogenetic analyses of haplotypes and detailed survey of population controls revealed that the A1555G mutation can be attributed to у30 independent mutational events among the 50 Spanish families and that it occurs on mtDNA haplogroups that are common in all European populations. This indicates that the relatively high detection rate of this mutation in Spain is not due to sampling biases or to a single major founder event. Moreover, the distribution of these mutational events on different haplogroups is compatible with a random occurrence of the A1555G mutation and tends to support the conclusion that mtDNA backgrounds do not play a significant role in the expression of the mutation. Overall, these findings appear to indicate that the rare detection of this mutation in other populations is most likely due to inadequacy in patient ascertainment and molecular screening. This probable lack of identification of the A1555G mutation in subjects affected by sensorineural hearing loss implies that their maternally related relatives are not benefiting from presymptomatic detection and information concerning their increased risk of ototoxicity due to aminoglycoside treatments.","publication_date":{"day":null,"month":null,"year":1999,"errors":{}},"publication_name":"The American Journal of Human 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American","url":"https://www.academia.edu/Documents/in/The_American"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":31369085,"url":"https://api.elsevier.com/content/article/PII:S0002929707621417?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633431"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633431/Origin_and_Diffusion_of_mtDNA_Haplogroup_X"><img alt="Research paper thumbnail of Origin and Diffusion of mtDNA Haplogroup X" class="work-thumbnail" src="https://attachments.academia-assets.com/102120431/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633431/Origin_and_Diffusion_of_mtDNA_Haplogroup_X">Origin and Diffusion of mtDNA Haplogroup X</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7ae3cb22f7e8b3074ae3ac5bc79c0ed2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120431,"asset_id":101633431,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120431/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "7ae3cb22f7e8b3074ae3ac5bc79c0ed2" } } $('.js-work-strip[data-work-id=101633431]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633431,"title":"Origin and Diffusion of mtDNA Haplogroup X","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as \"X1\" and \"X2.\" The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East. mtDNA and the nonrecombining part of the Y chromosome are widely used in archaeogenetic studies (Renfrew 2000; Cavalli-Sforza and Feldman 2003) that aim","publication_date":{"day":null,"month":null,"year":2003,"errors":{}},"publication_name":"The American Journal of Human 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href="https://www.academia.edu/101633430/Do_the_Four_Clades_of_the_mtDNA_Haplogroup_L2_Evolve_at_Different_Rates"><img alt="Research paper thumbnail of Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?" class="work-thumbnail" src="https://attachments.academia-assets.com/102120443/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633430/Do_the_Four_Clades_of_the_mtDNA_Haplogroup_L2_Evolve_at_Different_Rates">Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2001</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2e94140f639867429199d31a1c5eadcd" 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});</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2e94140f639867429199d31a1c5eadcd" } } $('.js-work-strip[data-work-id=101633430]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633430,"title":"Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Forty-seven mtDNAs collected in the Dominican Republic and belonging to the African-specific haplogroup L2 were studied by high-resolution RFLP and control-region sequence analyses. Four sets of diagnostic markers that subdivide L2 into four clades (L2a-L2d) were identified, and a survey of published African data sets appears to indicate that these clades encompass all L2 mtDNAs and harbor very different geographic/ethnic distributions. One mtDNA from each of the four clades was completely sequenced by means of a new sequencing protocol that minimizes time and expense. The phylogeny of the L2 complete sequences showed that the two mtDNAs from L2b and L2d seem disproportionately derived, compared with those from L2a and L2c. This result is not consistent with a simple model of neutral evolution with a uniform molecular clock. The pattern of nonsynonymous versus synonymous substitutions hints at a role for selection in the evolution of human mtDNA. Regardless of whether selection is shaping the evolution of modern human mtDNAs, the population screening of L2 mtDNAs for the mutations identified by our complete sequence study should allow the identification of marker motifs of younger age with more restricted geographic distributions, thus providing new clues about African prehistory and the origin and relationships of African ethnic groups.","publication_date":{"day":null,"month":null,"year":2001,"errors":{}},"publication_name":"The American Journal of Human 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href="https://www.academia.edu/101633448/Studies_of_human_genetic_history_using_mtDNA_variation"><img alt="Research paper thumbnail of Studies of human genetic history using mtDNA variation" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633448/Studies_of_human_genetic_history_using_mtDNA_variation">Studies of human genetic history using mtDNA variation</a></div><div class="wp-workCard_item"><span>Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics</span><span>, 2005</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Current studies of human mitochondrial DNA have revealed that the dissection of its variation int...</span><a class="js-work-more-abstract" 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Keywords: mitochondrial DNA variation; human origin and evolution; human population genetics; haplogroups; phylogeography; Native American origin; colonization of Europe</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633448"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633448"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633448; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633448]").text(description); $(".js-view-count[data-work-id=101633448]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633448; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633448']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633448, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633448]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633448,"title":"Studies of human genetic history using mtDNA variation","translated_title":"","metadata":{"abstract":"Current studies of human mitochondrial DNA have revealed that the dissection of its variation into smaller and younger subhaplogroups is an essential step in the identification of spatial frequency patterns, and that mass screening of a limited number of markers identified using complete mtDNA sequences is a very efficient strategy for inferring features of human genetic history. 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We show that mitochondrial DNA variation in isolated “relict” populations in southeast Asia supports the view that there was only a single dispersal from Africa, most likely via a southern coastal route, through India and onward into southeast Asia and Australasia. There was an early offshoot, leading ultimately to the settlement of the Near East and Europe, but the main dispersal from India to Australia ∼65,000 years ago was rapid, most likely taking only a few thousand years.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f9f115c6f8a0414cb56f13c50b34636e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120445,"asset_id":101633447,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120445/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&st=MTczMjQ2MzkwMCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633447"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633447"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633447; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633447]").text(description); $(".js-view-count[data-work-id=101633447]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633447; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633447']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633447, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f9f115c6f8a0414cb56f13c50b34636e" } } $('.js-work-strip[data-work-id=101633447]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633447,"title":"Single, Rapid Coastal Settlement of Asia Revealed by Analysis of Complete Mitochondrial Genomes","translated_title":"","metadata":{"abstract":"A recent dispersal of modern humans out of Africa is now widely accepted, but the routes taken across Eurasia are still disputed. 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href="https://www.academia.edu/101633446/Tracing_Modern_Human_Origins">Tracing Modern Human Origins</a></div><div class="wp-workCard_item"><span>Science</span><span>, 2005</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="283b2cff1c51973c687beadc0c14b8dd" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120427,"asset_id":101633446,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120427/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&st=MTczMjQ2MzkwMCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633446"><a 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hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633445/The_wolframin_His611Arg_polymorphism_influences_medication_overuse_headache"><img alt="Research paper thumbnail of The wolframin His611Arg polymorphism influences medication overuse headache" class="work-thumbnail" src="https://attachments.academia-assets.com/102120441/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633445/The_wolframin_His611Arg_polymorphism_influences_medication_overuse_headache">The wolframin His611Arg polymorphism influences medication overuse headache</a></div><div class="wp-workCard_item"><span>Neuroscience Letters</span><span>, 2007</span></div><div class="wp-workCard_item wp-workCard--actions"><span 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overuse headache","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Homozygosis for wolframin (WFS1) mutations determines Wolfram syndrome (WS), and common polymorphisms of WFS1 are associated with psychiatric illnesses and dependence behaviour. To test the influence of WFS1 polymorphisms on medication overuse headache (MOH), a chronic headache condition related to symptomatic drugs overuse, we analyzed 82 MOH patients for the WFS1 His611Arg polymorphism, and performed a comparison between clinical features of Arg/Arg (R/R) and non-R/R individuals. Individuals harbouring the R/R genotype showed significantly higher monthly drug consumption (t = −3.504; p = 0.00075) and more severe depressive symptoms on the BDI questionnaire (t = −3.048; p = 0.003) than non-R/R. WFS1 polymorphism emerged as the only significant predictor of drug consumption, at the multivariate regression analysis (F = 12.277; d.f. = 1,80; p = 0.00075, adjusted R 2 = 0.122). These results implicate WFS1 in the clinical picture of MOH, may be through an influence on need for drugs as in other conditions of abuse behaviour.","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Neuroscience 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class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633444/Mitochondrial_DNA_haplogroups_influence_the_therapeutic_response_to_riboflavin_in_migraineurs">Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs</a></div><div class="wp-workCard_item"><span>Neurology</span><span>, 2009</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d09200dbdd967f50326319191528c808" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120458,"asset_id":101633444,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120458/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa 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}); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633443"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop"><img alt="Research paper thumbnail of Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop">Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop</a></div><div class="wp-workCard_item"><span>Journal of the Neurological Sciences</span><span>, 2007</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia typ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633443"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633443"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633443; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633443]").text(description); $(".js-view-count[data-work-id=101633443]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633443; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633443']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633443, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633443]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633443,"title":"Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I–II loop","translated_title":"","metadata":{"abstract":"Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.","publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":2007,"errors":{}},"publication_name":"Journal of the Neurological Sciences"},"translated_abstract":"Familial hemiplegic migraine type 1, spinocerebellar ataxia type 6 (SCA6) and episodic ataxia type 2 (EA2) are allelic disorders associated with mutations in the CACNA1A gene, which encodes the alpha1 subunit of the P/Q-type calcium channel (Ca(V)2.1). SCA6 and EA2 share a number of clinical features, such as prominent cerebellar involvement and good response to acetazolamide therapy. However, while SCA6 develops as a late-onset, progressive ataxia, EA2 has an earlier, and episodic, onset. We report on two sisters with a heterogeneous clinical phenotype. The first developed progressive cerebellar ataxia after age 30, without noticeable episodes of vertigo or headache. A 1 year trial with acetazolamide did not produce significant results. The other reported episodes of vertigo, headache and gait imbalance since late childhood, with good response to acetazolamide, before developing moderate chronic cerebellar ataxia. Brain MRI showed cerebellar atrophy, especially in the vermis, in both patients. Direct sequencing of CACNA1A identified a heterozygous 1360G\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt;A mutation in exon 11 resulting in the substitution of alanine for threonine at residue 454 (p.Ala454Thr). This is the first description of a change residing in the cytoplasmic I-II loop associated with a clinical phenotype.","internal_url":"https://www.academia.edu/101633443/Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop","translated_internal_url":"","created_at":"2023-05-11T14:14:09.969-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Early_onset_progressive_ataxia_associated_with_the_first_CACNA1A_mutation_identified_within_the_I_II_loop","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[],"research_interests":[{"id":6200,"name":"Magnetic Resonance Imaging","url":"https://www.academia.edu/Documents/in/Magnetic_Resonance_Imaging"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":65615,"name":"Cerebellum","url":"https://www.academia.edu/Documents/in/Cerebellum"},{"id":73153,"name":"Genetic Testing","url":"https://www.academia.edu/Documents/in/Genetic_Testing"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":99271,"name":"Calcium channels","url":"https://www.academia.edu/Documents/in/Calcium_channels"},{"id":140122,"name":"Calcium Channel","url":"https://www.academia.edu/Documents/in/Calcium_Channel"},{"id":146326,"name":"Cerebellar ataxia","url":"https://www.academia.edu/Documents/in/Cerebellar_ataxia"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":462040,"name":"Acetazolamide","url":"https://www.academia.edu/Documents/in/Acetazolamide"},{"id":584615,"name":"Disease Progression","url":"https://www.academia.edu/Documents/in/Disease_Progression"},{"id":643228,"name":"Ataxia","url":"https://www.academia.edu/Documents/in/Ataxia"},{"id":712544,"name":"Alanine","url":"https://www.academia.edu/Documents/in/Alanine"},{"id":749362,"name":"Channelopathy","url":"https://www.academia.edu/Documents/in/Channelopathy"},{"id":894908,"name":"Amino Acid Substitution Rates","url":"https://www.academia.edu/Documents/in/Amino_Acid_Substitution_Rates"},{"id":1232430,"name":"Genetic Markers","url":"https://www.academia.edu/Documents/in/Genetic_Markers"},{"id":1489115,"name":"Age of Onset","url":"https://www.academia.edu/Documents/in/Age_of_Onset"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis"},{"id":3726714,"name":"Direct sequence","url":"https://www.academia.edu/Documents/in/Direct_sequence"}],"urls":[{"id":31369094,"url":"https://api.elsevier.com/content/article/PII:S0022510X07000342?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633441"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633441/Respiratory_function_in_cybrid_cell_lines_carrying_European_mtDNA_haplogroups_implications_for_Lebers_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy" class="work-thumbnail" src="https://attachments.academia-assets.com/102120446/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633441/Respiratory_function_in_cybrid_cell_lines_carrying_European_mtDNA_haplogroups_implications_for_Lebers_hereditary_optic_neuropathy">Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease</span><span>, 2002</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5c7ce8f9acb2b81da6546f30ec4a1d9e" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120446,"asset_id":101633441,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120446/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633441"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633441"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633441; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633441]").text(description); $(".js-view-count[data-work-id=101633441]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633441; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633441']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633441, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "5c7ce8f9acb2b81da6546f30ec4a1d9e" } } $('.js-work-strip[data-work-id=101633441]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633441,"title":"Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"The possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial respiratory function was tested in osteosarcoma-derived transmitochondrial cytoplasmic hybrids (cybrids). In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect.","publication_date":{"day":null,"month":null,"year":2002,"errors":{}},"publication_name":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of 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dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633439"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy">Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Annals of Neurology</span><span>, 2002</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633439"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633439"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633439; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633439]").text(description); $(".js-view-count[data-work-id=101633439]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633439; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633439']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633439, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=101633439]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633439,"title":"Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy","translated_title":"","metadata":{"abstract":"A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.","publisher":"Wiley","publication_date":{"day":null,"month":null,"year":2002,"errors":{}},"publication_name":"Annals of Neurology"},"translated_abstract":"A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber\u0026amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.","internal_url":"https://www.academia.edu/101633439/Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy","translated_internal_url":"","created_at":"2023-05-11T14:14:09.266-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Mitochondrial_DNA_nucleotide_changes_C14482G_and_C14482A_in_the_ND6_gene_are_pathogenic_for_Lebers_hereditary_optic_neuropathy","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":22506,"name":"Adolescent","url":"https://www.academia.edu/Documents/in/Adolescent"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":45213,"name":"Italy","url":"https://www.academia.edu/Documents/in/Italy"},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":111545,"name":"Male","url":"https://www.academia.edu/Documents/in/Male"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":316015,"name":"Gen","url":"https://www.academia.edu/Documents/in/Gen"},{"id":382075,"name":"Adult","url":"https://www.academia.edu/Documents/in/Adult"},{"id":710565,"name":"Annals","url":"https://www.academia.edu/Documents/in/Annals"},{"id":1169247,"name":"Optic Neuropathy","url":"https://www.academia.edu/Documents/in/Optic_Neuropathy"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"},{"id":1451232,"name":"Nucleotide","url":"https://www.academia.edu/Documents/in/Nucleotide"},{"id":1597877,"name":"Nucleotides","url":"https://www.academia.edu/Documents/in/Nucleotides"}],"urls":[{"id":31369091,"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fana.10193"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633438"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633438/Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade"><img alt="Research paper thumbnail of Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade" class="work-thumbnail" src="https://attachments.academia-assets.com/102120436/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633438/Phylogeography_of_the_human_mitochondrial_haplogroup_L3e_a_snapshot_of_African_prehistory_and_Atlantic_slave_trade">Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade</a></div><div class="wp-workCard_item"><span>Annals of Human Genetics</span><span>, 2001</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="b8b78dc6a821b7dc33e6c295896c6fc4" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120436,"asset_id":101633438,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120436/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633438"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633438"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633438; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633438]").text(description); $(".js-view-count[data-work-id=101633438]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633438; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633438']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633438, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "b8b78dc6a821b7dc33e6c295896c6fc4" } } $('.js-work-strip[data-work-id=101633438]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633438,"title":"Phylogeography of the human mitochondrial haplogroup L3e: a snapshot of African prehistory and Atlantic slave trade","translated_title":"","metadata":{"publisher":"Wiley","grobid_abstract":"The mtDNA haplogroup L3e, which is identified by the restriction site j2349 MboI within the Afro-Eurasian superhaplogroup L3 (k3592 HpaI), is omnipresent in Africa but virtually absent in Eurasia (except for neighbouring areas with limited genetic exchange). L3e was hitherto poorly characterised in terms of HVS-I motifs, as the ancestral HVS-I type of L3e cannot be distinguished from the putative HVS-I ancestor of the entire L3 (differing from the CRS by a transition at np 16223). An MboI screening at np 2349 of a large number of Brazilian and Caribbean mtDNAs (encompassing numerous mtDNAs of African ancestry), now reveals that L3e is subdivided into four principal clades, each characterised by a single mutation in HVS-I, with additional support coming from HVS-II and partial RFLP analysis. The apparently oldest of these clades (transition at np 16327) occurs mainly in central Africa and was probably carried to southern Africa with the Bantu expansion(s). The most frequent clade (transition at np 16320) testifies to a pronounced expansion event in the mid-Holocene and seems to be prominent in many Bantu groups from all of Africa. In contrast, one clade (transition at np 16264) is essentially restricted to Atlantic western Africa (including Cabo Verde). We propose a tentative L3e phylogeny that is based on 197 HVS-I sequences. We conclude that haplogroup L3e originated in central or eastern Africa about 46,000 (p14,000) years ago, and was a hitchhiker of much later dispersal and local expansion events, with the rise of food production and iron smelting. Enforced migration of African slaves to the Americas translocated L3e mitochondria, the descendants of which in Brazil and the Caribbean still reflect their different regional African ancestries.","publication_date":{"day":null,"month":null,"year":2001,"errors":{}},"publication_name":"Annals of Human 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wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633436/Identification_of_Native_American_Founder_mtDNAs_Through_the_Analysis_of_Complete_mtDNA_Sequences_Some_Caveats">Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats</a></div><div class="wp-workCard_item"><span>Annals of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d2f88dfb14ce3c3114f600fb04e9f32d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120430,"asset_id":101633436,"asset_type":"Work","button_location":"profile"}" 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "d2f88dfb14ce3c3114f600fb04e9f32d" } } $('.js-work-strip[data-work-id=101633436]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633436,"title":"Identification of Native American Founder mtDNAs Through the Analysis of Complete mtDNA Sequences: Some Caveats","translated_title":"","metadata":{"publisher":"Wiley","grobid_abstract":"In this study, a detailed analysis of both previously published and new data was performed to determine whether complete, or almost complete, mtDNA sequences can resolve the long-debated issue of which Asian mtDNAs were founder sequences for the Native American mtDNA pool. Unfortunately, we now know that coding region data and their analysis are not without problems. To obtain and report reasonably correct sequences does not seem to be a trivial task, and to discriminate between Asian and Native American mtDNA ancestries may be more complex than previously believed. It is essential to take into account the effects of mutational hot spots in both the control and coding regions, so that the number of apparent Native American mtDNA founder sequences is not erroneously inflated. As we report here, a careful analysis of all available data indicates that there is very little evidence that more than five founder mtDNA sequences entered Beringia before the Last Glacial Maximum and left their traces in the current Native American mtDNA pool.","publication_date":{"day":null,"month":null,"year":2003,"errors":{}},"publication_name":"Annals of Human 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class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633434/The_ND1_gene_of_complex_I_is_a_mutational_hot_spot_for_Leber_s_hereditary_optic_neuropathy">The ND1 gene of complex I is a mutational hot spot for Leber’s hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>American Journal of Ophthalmology</span><span>, 2005</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9279f639b5a61b4ba2b02694a1e21cff" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120428,"asset_id":101633434,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120428/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "9279f639b5a61b4ba2b02694a1e21cff" } } $('.js-work-strip[data-work-id=101633434]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633434,"title":"The ND1 gene of complex I is a mutational hot spot for Leber’s hereditary optic neuropathy","translated_title":"","metadata":{"publisher":"Elsevier BV","publication_date":{"day":null,"month":null,"year":2005,"errors":{}},"publication_name":"American Journal of 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data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633433/Extensive_Female_Mediated_Gene_Flow_from_Sub_Saharan_Africa_into_Near_Eastern_Arab_Populations">Extensive Female-Mediated Gene Flow from Sub-Saharan Africa into Near Eastern Arab Populations</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="ab221875d01ca7d6507c5881c30d58e3" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120424,"asset_id":101633433,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120424/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner 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Other Arab populations carried ∼10% lineages of sub-Saharan origin, whereas non-Arab Near Eastern populations, by contrast, carried few or no such lineages, suggesting that gene flow has been preferentially into Arab populations. Several lines of evidence suggest that most of this gene flow probably occurred within the past ∼2,500 years. In contrast, there is little evidence for male-mediated gene flow from sub-Saharan Africa in Ychromosome haplotypes in Arab populations, including the Hadramawt. Taken together, these results are consistent with substantial migration from eastern Africa into Arabia, at least in part as a result of the Arab slave trade, and mainly female assimilation into the Arabian population as a result of miscegenation and manumission. Contacts between eastern Africa and Arabia have existed since the establishment of obsidian exchange networks as early as the 7th millennium B.C. They were stimulated by the growth of the Egyptian state from the 4th millennium onward, with possible settlements of people from Arabia in the Horn of Africa as early as the 3rd and 2nd millennia B.C. The Afro-Arabian Tihama cultural complex, for which an African origin seems most likely, arose in the mid-2nd millennium. In addition to the coastal site of Adulis in Eritrea and sites farther inland in Eritrea, Ethiopia, and Sudan, it is represented on the Saudi coastal plains and the western and southern coasts of Yemen. Other traditions appear to have spread in the opposite direction (Fattovich 1997). Southern Arabs gained control of the Red Sea trade routes in the 12th century B.C., and the first kingdom, Saba, arose in Yemen in ∼800 B.C. As a result, Eritrea","publication_date":{"day":null,"month":null,"year":2003,"errors":{}},"publication_name":"The American Journal of Human Genetics","grobid_abstract_attachment_id":102120424},"translated_abstract":null,"internal_url":"https://www.academia.edu/101633433/Extensive_Female_Mediated_Gene_Flow_from_Sub_Saharan_Africa_into_Near_Eastern_Arab_Populations","translated_internal_url":"","created_at":"2023-05-11T14:14:07.101-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":102120424,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120424/thumbnails/1.jpg","file_name":"Richards2003.pdf","download_url":"https://www.academia.edu/attachments/102120424/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Extensive_Female_Mediated_Gene_Flow_from.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120424/Richards2003-libre.pdf?1683840479=\u0026response-content-disposition=attachment%3B+filename%3DExtensive_Female_Mediated_Gene_Flow_from.pdf\u0026Expires=1732440866\u0026Signature=BmhZ-ufO8fbZrHO82b3ScvJlJb77ZdMskivITLVn7o1kXNvei937BX7R7uLGvy0eaB~YgUSw7pzpuVDDlXfnz~ORChXiUii-pHwwhO2IhGlUwTxj0VEPdvb4QaCBGNBLkwOF5PWlFZ67FFa9aACtBd3wYgO8UKNC3UcaD8Z-0H7A1zfUVPrHpGNgmgJ8t6NvL078zRB27BbOo9i7NGNSUXp9BWL-1VleCbzbLC79acMabVDs8BnCUlf7WNbS~DY3Tz5QAxeqWZnfW8dPB5BS9XOlMjvvB31~uws89c53vgvGgfLvQXGkjymr32ga1TqXsCytaz7o7568M4LpRQTRbA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Extensive_Female_Mediated_Gene_Flow_from_Sub_Saharan_Africa_into_Near_Eastern_Arab_Populations","translated_slug":"","page_count":7,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara Rengo","url":"https://independent.academia.edu/ChiaraRengo"},"attachments":[{"id":102120424,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120424/thumbnails/1.jpg","file_name":"Richards2003.pdf","download_url":"https://www.academia.edu/attachments/102120424/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Extensive_Female_Mediated_Gene_Flow_from.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120424/Richards2003-libre.pdf?1683840479=\u0026response-content-disposition=attachment%3B+filename%3DExtensive_Female_Mediated_Gene_Flow_from.pdf\u0026Expires=1732440866\u0026Signature=BmhZ-ufO8fbZrHO82b3ScvJlJb77ZdMskivITLVn7o1kXNvei937BX7R7uLGvy0eaB~YgUSw7pzpuVDDlXfnz~ORChXiUii-pHwwhO2IhGlUwTxj0VEPdvb4QaCBGNBLkwOF5PWlFZ67FFa9aACtBd3wYgO8UKNC3UcaD8Z-0H7A1zfUVPrHpGNgmgJ8t6NvL078zRB27BbOo9i7NGNSUXp9BWL-1VleCbzbLC79acMabVDs8BnCUlf7WNbS~DY3Tz5QAxeqWZnfW8dPB5BS9XOlMjvvB31~uws89c53vgvGgfLvQXGkjymr32ga1TqXsCytaz7o7568M4LpRQTRbA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":261,"name":"Geography","url":"https://www.academia.edu/Documents/in/Geography"},{"id":4313,"name":"Gene Flow","url":"https://www.academia.edu/Documents/in/Gene_Flow"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":43520,"name":"Middle East","url":"https://www.academia.edu/Documents/in/Middle_East"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes"},{"id":98925,"name":"Female","url":"https://www.academia.edu/Documents/in/Female"},{"id":219123,"name":"Ethnic Groups","url":"https://www.academia.edu/Documents/in/Ethnic_Groups"},{"id":362284,"name":"Arabs","url":"https://www.academia.edu/Documents/in/Arabs"},{"id":611424,"name":"Sub Saharan Africa","url":"https://www.academia.edu/Documents/in/Sub_Saharan_Africa"},{"id":1591688,"name":"Haplotype","url":"https://www.academia.edu/Documents/in/Haplotype"},{"id":1863718,"name":"The American","url":"https://www.academia.edu/Documents/in/The_American"},{"id":1934791,"name":"Gene pool","url":"https://www.academia.edu/Documents/in/Gene_pool"},{"id":2677637,"name":"Sex Characteristics","url":"https://www.academia.edu/Documents/in/Sex_Characteristics"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":31369086,"url":"https://api.elsevier.com/content/article/PII:S0002929707606302?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633432"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633432/The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness"><img alt="Research paper thumbnail of The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness" class="work-thumbnail" src="https://attachments.academia-assets.com/102120429/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633432/The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness">The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 1999</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="97554f0be2db4113ce509e2f20e484c5" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120429,"asset_id":101633432,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/102120429/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="101633432"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="101633432"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 101633432; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "97554f0be2db4113ce509e2f20e484c5" } } $('.js-work-strip[data-work-id=101633432]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633432,"title":"The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was studied by high-resolution RFLP analysis and sequencing of the control region. Phylogenetic analyses of haplotypes and detailed survey of population controls revealed that the A1555G mutation can be attributed to у30 independent mutational events among the 50 Spanish families and that it occurs on mtDNA haplogroups that are common in all European populations. This indicates that the relatively high detection rate of this mutation in Spain is not due to sampling biases or to a single major founder event. Moreover, the distribution of these mutational events on different haplogroups is compatible with a random occurrence of the A1555G mutation and tends to support the conclusion that mtDNA backgrounds do not play a significant role in the expression of the mutation. Overall, these findings appear to indicate that the rare detection of this mutation in other populations is most likely due to inadequacy in patient ascertainment and molecular screening. This probable lack of identification of the A1555G mutation in subjects affected by sensorineural hearing loss implies that their maternally related relatives are not benefiting from presymptomatic detection and information concerning their increased risk of ototoxicity due to aminoglycoside treatments.","publication_date":{"day":null,"month":null,"year":1999,"errors":{}},"publication_name":"The American Journal of Human Genetics","grobid_abstract_attachment_id":102120429},"translated_abstract":null,"internal_url":"https://www.academia.edu/101633432/The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness","translated_internal_url":"","created_at":"2023-05-11T14:14:06.810-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":102120429,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120429/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/102120429/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"The_A1555G_Mutation_in_the_12S_rRNA_Gene.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120429/pdf-libre.pdf?1683840477=\u0026response-content-disposition=attachment%3B+filename%3DThe_A1555G_Mutation_in_the_12S_rRNA_Gene.pdf\u0026Expires=1732440866\u0026Signature=NDw33RRqnGoipB~RIERxaicVHw6p5T9LbM2hZYW8kvVgfltpTPtEnsyuFgjQz-ATYCEsU7l1C9f3nFG4P-50Yf4QHz51sD1XYbZJvu7UzRNkRTfK6hk8uZfwK5sww9-frUBdbPdKiegraVkzlCvvPxEgZmnOEP9CKTjrvei6g1-fkNp61w-Icix51rajDie~sQitX~vpaLnJSHMpmZXT9~JYF9V--fSuMa0mO8YbFJ7gxgZONz1INJvmdPa3ZAuLX9B029e94hEQWKUc12BLcvC4Q6EpF7mKUwJa-GnrVor1c5G7G9qm3fd54VJBuK9~ijhaG1xmleXjj1CNvZLj8w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"The_A1555G_Mutation_in_the_12S_rRNA_Gene_of_Human_mtDNA_Recurrent_Origins_and_Founder_Events_in_Families_Affected_by_Sensorineural_Deafness","translated_slug":"","page_count":10,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara 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Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes"},{"id":226636,"name":"Deafness","url":"https://www.academia.edu/Documents/in/Deafness"},{"id":234147,"name":"ribosomal RNA","url":"https://www.academia.edu/Documents/in/ribosomal_RNA"},{"id":321571,"name":"Haplogroup","url":"https://www.academia.edu/Documents/in/Haplogroup"},{"id":1591688,"name":"Haplotype","url":"https://www.academia.edu/Documents/in/Haplotype"},{"id":1738247,"name":"Founder Effect","url":"https://www.academia.edu/Documents/in/Founder_Effect"},{"id":1863718,"name":"The American","url":"https://www.academia.edu/Documents/in/The_American"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":31369085,"url":"https://api.elsevier.com/content/article/PII:S0002929707621417?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633431"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633431/Origin_and_Diffusion_of_mtDNA_Haplogroup_X"><img alt="Research paper thumbnail of Origin and Diffusion of mtDNA Haplogroup X" class="work-thumbnail" src="https://attachments.academia-assets.com/102120431/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633431/Origin_and_Diffusion_of_mtDNA_Haplogroup_X">Origin and Diffusion of mtDNA Haplogroup X</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2003</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7ae3cb22f7e8b3074ae3ac5bc79c0ed2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":102120431,"asset_id":101633431,"asset_type":"Work","button_location":"profile"}" 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})(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "7ae3cb22f7e8b3074ae3ac5bc79c0ed2" } } $('.js-work-strip[data-work-id=101633431]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633431,"title":"Origin and Diffusion of mtDNA Haplogroup X","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as \"X1\" and \"X2.\" The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East. mtDNA and the nonrecombining part of the Y chromosome are widely used in archaeogenetic studies (Renfrew 2000; Cavalli-Sforza and Feldman 2003) that aim","publication_date":{"day":null,"month":null,"year":2003,"errors":{}},"publication_name":"The American Journal of Human Genetics","grobid_abstract_attachment_id":102120431},"translated_abstract":null,"internal_url":"https://www.academia.edu/101633431/Origin_and_Diffusion_of_mtDNA_Haplogroup_X","translated_internal_url":"","created_at":"2023-05-11T14:14:06.549-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":253080991,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":102120431,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/102120431/thumbnails/1.jpg","file_name":"pmc1180497.pdf","download_url":"https://www.academia.edu/attachments/102120431/download_file?st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&st=MTczMjQ2MzkwMSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Origin_and_Diffusion_of_mtDNA_Haplogroup.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/102120431/pmc1180497-libre.pdf?1683840478=\u0026response-content-disposition=attachment%3B+filename%3DOrigin_and_Diffusion_of_mtDNA_Haplogroup.pdf\u0026Expires=1732467501\u0026Signature=XG1y3O0Tl9~ZsPe2A2mumeUhkJujLvDNKgziwGbwDb3qH6wIV6bdNeVhO4xS1Rg7mp1IptEZRfHt5p1GX8CY33YrBT5yBG3h0DpeUdgvjrmLC~MUINUde4CIZCoPW08UFoVQRRrnaZZauEYiETXpV9ZbBuBWamMpvN8Ak9Eo1f91S8ukhr-LitWhv1lgBTlfIGvWNXKdLmJaA1QcEvtiPuxYq5bB3UgYIrXA~jP502wMXT5OceXs2rHo9NEOMHvqih~fJ-nCC10j72~by1apligRcGylWc9X1lDsz-ynBL-T-WCbgbfWRBXmNT59h326ZqlA73M0K1loZxRZJWOXhg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Origin_and_Diffusion_of_mtDNA_Haplogroup_X","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":253080991,"first_name":"Chiara","middle_initials":null,"last_name":"Rengo","page_name":"ChiaraRengo","domain_name":"independent","created_at":"2023-01-12T14:12:07.867-08:00","display_name":"Chiara 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Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences"},{"id":54433,"name":"Phylogeny","url":"https://www.academia.edu/Documents/in/Phylogeny"},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA"},{"id":64568,"name":"Humans","url":"https://www.academia.edu/Documents/in/Humans"},{"id":75826,"name":"Europe","url":"https://www.academia.edu/Documents/in/Europe"},{"id":86952,"name":"Haplotypes","url":"https://www.academia.edu/Documents/in/Haplotypes"},{"id":110578,"name":"Asia","url":"https://www.academia.edu/Documents/in/Asia"},{"id":321571,"name":"Haplogroup","url":"https://www.academia.edu/Documents/in/Haplogroup"},{"id":516151,"name":"Genetic Polymorphism","url":"https://www.academia.edu/Documents/in/Genetic_Polymorphism"},{"id":550697,"name":"Phylogenetic Tree","url":"https://www.academia.edu/Documents/in/Phylogenetic_Tree"},{"id":577933,"name":"Genetic variation","url":"https://www.academia.edu/Documents/in/Genetic_variation"},{"id":865641,"name":"North American Indians","url":"https://www.academia.edu/Documents/in/North_American_Indians"},{"id":1863718,"name":"The American","url":"https://www.academia.edu/Documents/in/The_American"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":31369084,"url":"https://api.elsevier.com/content/article/PII:S0002929707619806?httpAccept=text/xml"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="101633430"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/101633430/Do_the_Four_Clades_of_the_mtDNA_Haplogroup_L2_Evolve_at_Different_Rates"><img alt="Research paper thumbnail of Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?" class="work-thumbnail" src="https://attachments.academia-assets.com/102120443/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/101633430/Do_the_Four_Clades_of_the_mtDNA_Haplogroup_L2_Evolve_at_Different_Rates">Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?</a></div><div class="wp-workCard_item"><span>The American Journal of Human Genetics</span><span>, 2001</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2e94140f639867429199d31a1c5eadcd" 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var workId = 101633430; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=101633430]").text(description); $(".js-view-count[data-work-id=101633430]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 101633430; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='101633430']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 101633430, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2e94140f639867429199d31a1c5eadcd" } } $('.js-work-strip[data-work-id=101633430]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":101633430,"title":"Do the Four Clades of the mtDNA Haplogroup L2 Evolve at Different Rates?","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Forty-seven mtDNAs collected in the Dominican Republic and belonging to the African-specific haplogroup L2 were studied by high-resolution RFLP and control-region sequence analyses. Four sets of diagnostic markers that subdivide L2 into four clades (L2a-L2d) were identified, and a survey of published African data sets appears to indicate that these clades encompass all L2 mtDNAs and harbor very different geographic/ethnic distributions. One mtDNA from each of the four clades was completely sequenced by means of a new sequencing protocol that minimizes time and expense. The phylogeny of the L2 complete sequences showed that the two mtDNAs from L2b and L2d seem disproportionately derived, compared with those from L2a and L2c. This result is not consistent with a simple model of neutral evolution with a uniform molecular clock. The pattern of nonsynonymous versus synonymous substitutions hints at a role for selection in the evolution of human mtDNA. Regardless of whether selection is shaping the evolution of modern human mtDNAs, the population screening of L2 mtDNAs for the mutations identified by our complete sequence study should allow the identification of marker motifs of younger age with more restricted geographic distributions, thus providing new clues about African prehistory and the origin and relationships of African ethnic groups.","publication_date":{"day":null,"month":null,"year":2001,"errors":{}},"publication_name":"The American Journal of Human 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