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Different historical generation intervals in human populations inferred from Neanderthal fragment lengths and mutation signatures - PubMed

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class="collections-new" name="collections" value="new" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_new"> <label for="collections-action-panel-new">Create a new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="0wyOmB75M7eDlItYXOB9jlk1rYSdjxNKHSBGOzISeBExswwygXmVdgwkwqSjKQSn"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="0wyOmB75M7eDlItYXOB9jlk1rYSdjxNKHSBGOzISeBExswwygXmVdgwkwqSjKQSn"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="0wyOmB75M7eDlItYXOB9jlk1rYSdjxNKHSBGOzISeBExswwygXmVdgwkwqSjKQSn"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="0wyOmB75M7eDlItYXOB9jlk1rYSdjxNKHSBGOzISeBExswwygXmVdgwkwqSjKQSn"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^&quot;&amp;=&lt;&gt;\/]*" title="The following characters are not allowed in the Name field: &quot;&amp;=&lt;&gt;/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="34493715"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a 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data-ga-category="collections_button" data-ga-action="select_collection" data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="collections_button" data-ga-action="click" data-ga-label="add"> Add </button><button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="collections_button" data-ga-action="click" data-ga-label="cancel"> Cancel </button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" 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data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> Bioinformatics Research Centre, Aarhus University, Aarhus C, Denmark. mheide@birc.au.dk.</li> </ul> </div> <div class="equal-contrib-block"> <div class="equal-contrib-explanation" id="short-view-equal-contrib-explanation"><sup class="key">#</sup> Contributed equally.</div> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">34493715</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&amp;article_id=PMC8423828&amp;id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC8423828/" data-ga-category="full_text" data-ga-action="PMCID" > PMC8423828 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: 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class="abstract-content selected" id="eng-abstract"> <p> After the main Out-of-Africa event, humans interbred with Neanderthals leaving 1-2% of Neanderthal DNA scattered in small fragments in all non-African genomes today. Here we investigate what can be learned about human demographic processes from the size distribution of these fragments. We observe differences in fragment length across Eurasia with 12% longer fragments in East Asians than West Eurasians. Comparisons between extant populations with ancient samples show that these differences are caused by different rates of decay in length by recombination since the Neanderthal admixture. In concordance, we observe a strong correlation between the average fragment length and the mutation accumulation, similar to what is expected by changing the ages at reproduction as estimated from trio studies. Altogether, our results suggest differences in the generation interval across Eurasia, by up 10-20%, over the past 40,000 years. We use sex-specific mutation signatures to infer whether these changes were driven by shifts in either male or female age at reproduction, or both. We also find that previously reported variation in the mutational spectrum may be largely explained by changes to the generation interval. We conclude that Neanderthal fragment lengths provide unique insight into differences among human populations over recent history. </p> </div> </div> <p class="copyright" id="copyright"> © 2021. The Author(s). </p> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="conflict-of-interest" id="conflict-of-interest"> <h2 class="title"> Conflict of interest statement </h2> <div class="statement"> <p xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:p1="http://pubmed.gov/pub-one">The authors declare no competing interests.</p> </div> </div> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="fig-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/0c3ba28d84b9/41467_2021_25524_Fig1_HTML.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="791" data-image-height="707" data-image-alt="Fig. 1" data-pmc-id="PMC8423828" data-figure-id="Fig1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/047c0791e8e8/41467_2021_25524_Fig1_HTML.gif" alt="Fig. 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="791"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="707"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Fig. 1. Archaic fragment statistics distributions around… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Fig. 1. Archaic fragment statistics distributions around the world and in ancient samples. </p> </strong> <div class="figure-caption-contents"><b> a </b> World…</div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Fig. 1. Archaic fragment statistics distributions around the world and in ancient samples. </strong> <div class="figure-caption-contents"><b>a</b> World map (Methods) showing as circles the samples from SGDP used in this study coloured according to the mean archaic fragment length. <b>b</b> Mean archaic fragment length of extant geographical regions and ancient samples. Ust’-Ishim, Yana1, Sunghir3, Kolyma, Loschbour and Stuttgart mean archaic fragment lengths are shown as black points with specific shapes with their corresponding 95%CI as error bars. The sample sizes of fragments for which summary statistics are derived, together with other statistics, are indicated in Supplementary Table 3. The average of the mean archaic fragment length among all individuals in each of the five main regions are shown as points (colour-coded). The zoom-in shows the mean archaic fragment length distribution per region (colour coded) as a violin plot. Individual values are shown as dots. The median is shown as a horizontal line in each violin plot. The mean and its 95%CI of each distribution are shown as a coloured square with their corresponding error bars. The sample sizes of individuals for each region for which summary statistics are derived, together with other statistics, are indicated in Supplementary Table 2. Kolyma, Loschbour and Stuttgart mean fragment lengths are also shown for comparison. <b>c</b>, <b>d</b> The number of archaic fragments and the archaic sequence distributions, respectively, per region (colour coded) as violin plot. Individual values are shown as dots. The median is shown as a horizontal line in each violin plot. The mean and its 95%CI of each distribution are shown as a coloured square with their corresponding error bars. The sample sizes of individuals for each region for which summary statistics are derived, together with other statistics, are indicated in Supplementary Table 2.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="1" data-label-slug="fig-2"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/f0694b11570b/41467_2021_25524_Fig2_HTML.jpg" itemprop="contentUrl" aria-describedby="figure-caption-1" role="button" data-image-width="674" data-image-height="583" data-image-alt="Fig. 2" data-pmc-id="PMC8423828" data-figure-id="Fig2"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-1" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/52db7bb63606/41467_2021_25524_Fig2_HTML.gif" alt="Fig. 2" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="674"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="583"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Fig. 2. West Eurasia and East Asia… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Fig. 2. West Eurasia and East Asia archaic fragments comparison. </p> </strong> <div class="figure-caption-contents"><b> a </b> Joined archaic sequence in…</div> </div> <figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Fig. 2. West Eurasia and East Asia archaic fragments comparison. </strong> <div class="figure-caption-contents"><b>a</b> Joined archaic sequence in both geographic regions (colour coded). The portion of the bar painted in plain colour shows the shared amount between the regions. The rest of the column shows the sequence private of each region. The numbers in each section denote the corresponding archaic sequence in Mb. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 6. <b>b</b> The mean archaic fragment length distributions of individual shared fragments among regions per region (colour coded) as violin plot. Individual values are shown as dots. The median is shown as a horizontal line in each violin plot. The mean and its 95%CI of each distribution are shown as a coloured square with their corresponding error bars. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 7. <b>c</b> The number of 1 kb genomic windows (<i>y</i>-axis) in which an archaic fragment has been found in a certain number of individuals (<i>x</i>-axis) for each region. The insert shows the high-frequency bins. Vertical lines show the mean (plain lines) and median (dashed lines) for each region. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 7.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="2" data-label-slug="fig-3"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/7aae1de4d4bc/41467_2021_25524_Fig3_HTML.jpg" itemprop="contentUrl" aria-describedby="figure-caption-2" role="button" data-image-width="799" data-image-height="1007" data-image-alt="Fig. 3" data-pmc-id="PMC8423828" data-figure-id="Fig3"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-2" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/d95d33caddac/41467_2021_25524_Fig3_HTML.gif" alt="Fig. 3" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="799"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1007"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Fig. 3. Derived allele accumulation distributions and… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Fig. 3. Derived allele accumulation distributions and their mutation spectrum. </p> </strong> <div class="figure-caption-contents"><b> a </b> Distribution of the derived…</div> </div> <figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Fig. 3. Derived allele accumulation distributions and their mutation spectrum. </strong> <div class="figure-caption-contents"><b>a</b> Distribution of the derived allele accumulation (<i>y</i>-axis) per region (colour coded) as violin plot. Individual values are shown as dots. The median is shown as a horizontal line in each violin plot. The mean and its 95%CI of each distribution are shown as a coloured square with their corresponding error bars. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 9. <b>b</b> Correlation between the derived allele proportion (<i>y</i>-axis) with the mean archaic fragment length (<i>x</i>-axis) for nine mutation types. Each dot represents an individual coloured according to the region they belong to. For each region, The mean and its 95%CI of both axes are shown as a coloured square with their corresponding error bars. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 2 and Supplementary Table 10. Linear regressions (black lines) are shown with their corresponding SE (shaded area). For each mutation, the linear regression and corresponding SE between the fraction of DNM and mean parental age per proband of the deCODE data (Methods, S10) is shown as an insert. Note that the total span of the <i>y</i>-axis is the same for all panels and inserts but centred at the mean value specifically in each panel and insert. Asterisk on the left and right sides of each mutation type indicates that the slope of the linear regression is significantly different from 0 for the SGDP and the deCODE data, respectively (Supplementary Table 11).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="3" data-label-slug="fig-4"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/c307c8220a78/41467_2021_25524_Fig4_HTML.jpg" itemprop="contentUrl" aria-describedby="figure-caption-3" role="button" data-image-width="674" data-image-height="840" data-image-alt="Fig. 4" data-pmc-id="PMC8423828" data-figure-id="Fig4"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-3" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/409b/8423828/50661e435553/41467_2021_25524_Fig4_HTML.gif" alt="Fig. 4" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="674"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="840"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Fig. 4. Sex-specific mutation patterns. </p> </strong> <div class="figure-caption-contents"><b> a </b> Scatterplot…</div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Fig. 4. Sex-specific mutation patterns. </p> </strong> <div class="figure-caption-contents"><b> a </b> Scatterplot of the X-to-A ratio in derived allele accumulation…</div> </div> <figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Fig. 4. Sex-specific mutation patterns. </strong> <div class="figure-caption-contents"><b>a</b> Scatterplot of the X-to-A ratio in derived allele accumulation (<i>y</i>-axis, Methods) and the mean archaic fragment length (<i>x</i>-axis) for each region (colour coded). Each dot represents an individual in the corresponding population. The mean for each population for each axis is shown in squares and their 95%CI are denoted by the error bars. Only females were used to produce this plot. The sample sizes of individuals for each region for which summary statistics are derived, together with other statistics, are indicated in Supplementary Table 12. <b>b</b> The same as in (<b>a</b>), but the ratio between the proportions of C &gt; G derived alleles in cDNM and the rest of the genome (Methods). All samples were used to produce this plot. The sample sizes of individuals for each region for which summary statistics are derived from, together with other statistics, are indicated in Supplementary Table 2 and Supplementary Table 10.</div> </figcaption> </figure> </div> <!-- Root element of PhotoSwipe. 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dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword History, 21st Century" tabindex="0" aria-controls="keyword-actions-mesh-terms-8" aria-expanded="false" data-pinger-ignore> History, 21st Century </button><div id="keyword-actions-mesh-terms-8" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword History, 21st Century"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22History%2C+21st+Century%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22History%2C+21st+Century%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;History, 21st Century&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="History, 21st Century"> Search in PubMed </a></li><li><a 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dropdown-container" hidden aria-label="Dropdown menu for keyword History, Ancient"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22History%2C+Ancient%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22History%2C+Ancient%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;History, Ancient&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="History, Ancient"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=History%2C+Ancient" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="History, Ancient"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term="&quot;History, Ancient&quot;[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label="&quot;History, Ancient&quot;[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Humans" tabindex="0" aria-controls="keyword-actions-mesh-terms-10" aria-expanded="false" data-pinger-ignore> Humans </button><div id="keyword-actions-mesh-terms-10" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Humans%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" 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Male </button><div id="keyword-actions-mesh-terms-11" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Male%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Male%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Male&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Male"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Male" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Male"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" 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aria-controls="keyword-actions-mesh-terms-major-13" aria-expanded="false" data-pinger-ignore> Neanderthals / genetics* </button><div id="keyword-actions-mesh-terms-major-13" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Neanderthals / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Neanderthals%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Neanderthals%2Fgenetics%22%5BMAJR%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Neanderthals/genetics&quot;[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Neanderthals / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Neanderthals" 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Length"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Polymorphism%2C+Restriction+Fragment+Length%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" data-href="/?term=%22Polymorphism%2C+Restriction+Fragment+Length%22%5BMeSH%5D&amp;sort=date&amp;sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&amp;mesh=&quot;Polymorphism, Restriction Fragment Length&quot;[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Polymorphism, Restriction Fragment Length"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Polymorphism%2C+Restriction+Fragment+Length" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Polymorphism, Restriction Fragment Length"> Search in MeSH </a></li><li><a class="add-to-search-link 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