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e=d.getElementsByTagName(t)[0];s.async=1;s.src=u;e.parentNode.insertBefore(s,e); })(window,document,'script','//s.swiftypecdn.com/install/v2/st.js','_st'); _st('install','9o2w5BWLcXLJo5xDkCS4','2.0.0'); </script></a><a class="lg-donate search-bar"><input id="header-search-input" class="st-default-search-input" type="text"/></a></div></nav><style></style><div><style>.lg-breadcrumb li em { color: inherit; }</style><div class="lg-section"><div class="uk-container uk-container-center"><ul class="uk-breadcrumb lg-breadcrumb"><li><a href="/">Home</a></li><li><a href="/content/basics">Basic Genetics</a></li><li><span class="uk-active">What is Mutation?</span></li></ul></div></div></div><div><style>.lg-page-title h1 em { color: inherit; }</style><div class="lg-section lg-page-title"><div class="uk-container uk-container-center"><div class="uk-flex" style="justify-content:space-between;flex-wrap:wrap;"><h1>What is Mutation?</h1></div></div></div><article class="lg-pod lg-section"><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-1-1 uk-text-center" style="margin:auto; max-width:undefinedpx"><div style="position: relative; padding-top: 56.25%; margin-bottom: 10px;"><iframe src="https://iframe.mediadelivery.net/embed/12916/96786533-a79e-41c3-8f30-59f98b1bb3c2?autoplay=false" loading="lazy" style="border: none; position: absolute; top: 0; left: 0; height: 100%; width: 100%;" allow="accelerometer; gyroscope; autoplay; encrypted-media; picture-in-picture;" allowfullscreen="allowfullscreen"></iframe></div></div></div></div></article><article class="lg-pod lg-section"><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-1-1 uk-text-center"><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/dna-gene-allele.jpg" alt="dna explained"></div></div></div></article><article class="lg-pod lg-section"><div class="lg-section lg-pod-title"><div class="uk-container uk-container-center"><h2>Mutation Generates New Alleles</h2></div></div><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-medium-6-10"><p>The whole human family is one species with the same genes. Mutation creates slightly different versions of the same genes, called alleles. These small differences in DNA sequence make every individual unique. They account for the variation we see in human hair color, skin color, height, shape, behavior, and susceptibility to disease. Individuals in other species vary too, in both physical appearance and behavior.</p> <p>Genetic variation is useful because it helps populations change over time. Variations that help an organism survive and reproduce are passed on to the next generation. Variations that hinder survival and reproduction are eliminated from the population. This process of natural selection can lead to significant changes in the appearance, behavior, or physiology of individuals in a population, in just a few generations.</p> <p>Once new alleles arise, meiosis and sexual reproduction combine different alleles in new ways to increase genetic variation.</p></div> <div class="uk-width-medium-4-10"><figure><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/mut6.jpg" height="317" width="352" alt="alleles"> <p></p></figure></div></div></div></article><article class="lg-pod lg-section"><div class="lg-section lg-pod-title"><div class="uk-container uk-container-center"><h2>Mutation vs. variation</h2></div></div><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"> <div class="uk-width-medium-6-10"><p>It's useful to think of mutation as a process that creates genetic variation. We often refer to a mutation as a thing—the genetic variation itself. This approach can be useful when it comes to a gene associated with a disease: the disease allele carries a mutation, a DNA change that compromises the protein's function. However, this approach gives mutation a bad name.</p> <p>It’s important to remember that losing the function of a gene doesn’t always affect health. For example, most mammals have hundreds of genes that code for olfactory receptors, proteins that help us smell. Losing one of these genes probably doesn’t make all that much difference.</p> <p>In contrast to variations that cause disease, there are many more examples of variations that are neither good nor bad, but just different—like blood types and eye color. Just like with disease alleles, the process of mutation creates these more neutral variations. But with neutral variations, it can be impossible to tell which allele is the "normal" one that existed first and which is the "mutant"—and the distinction is often meaningless.</p></div> <div class="uk-width-medium-4-10"><figure><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/mut2.jpg" height="340" width="352" alt="alleles"> <p></p></figure></div></div></div></article><article class="lg-pod lg-section"><div class="lg-section lg-pod-title"><div class="uk-container uk-container-center"><h2>Proteins and switches</h2></div></div><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-medium-6-10"><p>Mutation creates variations in protein-coding portions of genes that can affect the protein itself. But even more often, it creates variations in the "switches" that control when and where a protein is active and how much protein is made.</p> <p>Lactase is an enzyme that helps infants break down lactose, a sugar in milk. Normally the gene that codes for lactase is active in babies and then turned off at about age four. When people who don't make lactase consume milk, they experience gas, nausea, and discomfort. But some people have a variation in a genetic switch that keeps the lactase gene active. This variation is called "lactase persistence," and people who have it can keep milk in their diets even as adults.</p></div><div class="uk-width-medium-4-10"><figure><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/mut3.jpg" height="340" width="352" alt="switches"></figure></div></div></div></article><article class="lg-pod lg-section"><div class="lg-section lg-pod-title"><div class="uk-container uk-container-center"><h2>Other drivers of mutation: Environmental agents</h2></div></div><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-medium-6-10"><p>Radiation, chemicals, byproducts of cellular metabolism, free radicals, ultraviolet rays from the sun—these agents damage thousands of nucleotides in each of our cells every day. They affect the nucleotides themselves: converting one base to another, knocking a base off its backbone, or even causing a break in the DNA strand.</p></div><div class="uk-width-medium-4-10"><figure><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/mut4.jpg" height="340" width="352" alt="agents"></figure></div></div></div></article><article class="lg-pod lg-section"><div class="lg-section lg-pod-title"><div class="uk-container uk-container-center"><h2>DNA Repair</h2></div></div><div class="uk-container uk-container-center"><div class="lg-pod-body uk-grid" data-uk-grid-margin="data-uk-grid-margin"><div class="uk-width-medium-6-10"><p>Most of the time, mutation is reversed. DNA repair machines are constantly at work in our cells, fixing mismatched nucleotides and splicing broken DNA strands back together. Yet some DNA changes remain. If a cell accumulates too many changes—if its DNA is so damaged that repair machinery cannot fix it—it either stops dividing or it self-destructs. If any of these processes go wrong, the cell could become cancerous.</p> <p>When we put on sun screen, we are protecting ourselves against mutation in somatic cells—the cells that make up the body and are not involved in reproduction. Only when DNA changes are carried in egg and sperm cells are they passed to the next generation. Believe it or not, a certain amount of sloppiness is built into the system. Without mutation there would be no variation, and without variation there would be no evolution.</p></div> <div class="uk-width-medium-4-10"><figure><img src="https://learn-genetics.b-cdn.net/basics/mutation/images/mut5.jpg" height="340" width="352" alt="repair"></figure></div></div></div></article><div class="lg-section"><div class="uk-container uk-container-center"><a href="#references" data-uk-modal="data-uk-modal">References</a><div class="uk-modal" id="references"><div class="uk-modal-dialog"><a class="uk-modal-close uk-close"></a><h2>References</h2><p>Baer, C. F., Miyamoto, M. M., & Denver, D. R. (2007). Mutation rate variation in multicellular eukaryotes: causes and consequences. Nature Reviews Genetics, 8(8), 619-631.</p><p>Barnes, D. E., & Lindahl, T. (2004). Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu. Rev. Genet., 38, 445-476.</p><p>Campbell, C. D., & Eichler, E. E. (2013). Properties and rates of germline mutations in humans. Trends in Genetics, 29(10), 575-584.</p><p>Hoeijmakers, J. H. (2009). DNA damage, aging, and cancer. New England Journal of Medicine, 361(15), 1475-1485.</p><p>Jackson, S. P., & Bartek, J. (2009). The DNA-damage response in human biology and disease. Nature, 461(7267), 1071-1078.</p><p>Roach, J. C., Glusman, G., Smit, A. F., Huff, C. D., Hubley, R., Shannon, P. T., ... & Shendure, J. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science, 328(5978), 636-639. doi:10.1126/science.1186802</p></div></div></div></div></div><div><script src="https://learn-genetics.b-cdn.net/lib/jquery.min.js"></script><script src="https://learn-genetics.b-cdn.net/lib/uikit.min.js"></script><script type="text/javascript" src="https://gslcutah.atlassian.net/s/d41d8cd98f00b204e9800998ecf8427e-T/-9zew5j/b/7/c95134bc67d3a521bb3f4331beb9b804/_/download/batch/com.atlassian.jira.collector.plugin.jira-issue-collector-plugin:issuecollector/com.atlassian.jira.collector.plugin.jira-issue-collector-plugin:issuecollector.js?locale=en-US&collectorId=c1ab2cff">//use this one </script><script>//- $(document).ready(function() { window.ATL_JQ_PAGE_PROPS = $.extend(window.ATL_JQ_PAGE_PROPS, { 'c1ab2cff' : { environment : {'URL': window.location.href }, fieldValues : { customfield_10064: window.location.href, customfield_10067: window.document.title, customfield_10068: ['10110','10111'] } }, 'a654175d':{ fieldValues : { customfield_10064: 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Mutation?\u003c/h1\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-1-1 uk-text-center\" style=\"margin:auto; max-width:undefinedpx\"\u003e\u003cdiv style=\"position: relative; padding-top: 56.25%; margin-bottom: 10px;\"\u003e\u003ciframe src=\"https://iframe.mediadelivery.net/embed/12916/96786533-a79e-41c3-8f30-59f98b1bb3c2?autoplay=false\" loading=\"lazy\" style=\"border: none; position: absolute; top: 0; left: 0; height: 100%; width: 100%;\" allow=\"accelerometer; gyroscope; autoplay; encrypted-media; picture-in-picture;\" allowfullscreen=\"allowfullscreen\"\u003e\u003c/iframe\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-1-1 uk-text-center\"\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/dna-gene-allele.jpg\" alt=\"dna explained\"\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"lg-section lg-pod-title\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ch2\u003eMutation Generates New Alleles\u003c/h2\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-medium-6-10\"\u003e\u003cp\u003eThe whole human family is one species with the same genes. Mutation creates slightly\ndifferent versions of the same genes, called alleles. These small differences in DNA sequence\nmake every individual unique. They account for the variation we see in human hair color, skin\ncolor, height, shape, behavior, and susceptibility to disease. Individuals in other species\nvary too, in both physical appearance and behavior.\u003c/p\u003e \u003cp\u003eGenetic variation is useful because it helps populations change over time. Variations that\nhelp an organism survive and reproduce are passed on to the next generation. Variations that\nhinder survival and reproduction are eliminated from the population. This process of natural\nselection can lead to significant changes in the appearance, behavior, or physiology of\nindividuals in a population, in just a few generations.\u003c/p\u003e \u003cp\u003eOnce new alleles arise, meiosis and sexual reproduction combine different alleles in new\nways to increase genetic variation.\u003c/p\u003e\u003c/div\u003e \u003cdiv class=\"uk-width-medium-4-10\"\u003e\u003cfigure\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/mut6.jpg\" height=\"317\" width=\"352\" alt=\"alleles\"\u003e \u003cp\u003e\u003c/p\u003e\u003c/figure\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"lg-section lg-pod-title\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ch2\u003eMutation vs. variation\u003c/h2\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e \u003cdiv class=\"uk-width-medium-6-10\"\u003e\u003cp\u003eIt's useful to think of mutation as a process that creates genetic variation. We often refer\nto a mutation as a thing—the genetic variation itself. This approach can be useful when it comes\nto a gene associated with a disease: the disease allele carries a mutation, a DNA change that\ncompromises the protein's function. However, this approach gives mutation a bad name.\u003c/p\u003e \u003cp\u003eIt’s important to remember that losing the function of a gene doesn’t always affect health.\nFor example, most mammals have hundreds of genes that code for olfactory receptors, proteins\nthat help us smell. Losing one of these genes probably doesn’t make all that much difference.\u003c/p\u003e \u003cp\u003eIn contrast to variations that cause disease, there are many more examples of variations that\nare neither good nor bad, but just different—like blood types and eye color. Just like with\ndisease alleles, the process of mutation creates these more neutral variations. But with neutral\nvariations, it can be impossible to tell which allele is the \"normal\" one that existed first\nand which is the \"mutant\"—and the distinction is often meaningless.\u003c/p\u003e\u003c/div\u003e \u003cdiv class=\"uk-width-medium-4-10\"\u003e\u003cfigure\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/mut2.jpg\" height=\"340\" width=\"352\" alt=\"alleles\"\u003e \u003cp\u003e\u003c/p\u003e\u003c/figure\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"lg-section lg-pod-title\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ch2\u003eProteins and switches\u003c/h2\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-medium-6-10\"\u003e\u003cp\u003eMutation creates variations in protein-coding portions of genes that can affect the protein\nitself. But even more often, it creates variations in the \"switches\" that control when and\nwhere a protein is active and how much protein is made.\u003c/p\u003e \u003cp\u003eLactase is an enzyme that helps infants break down lactose, a sugar in milk. Normally the\ngene that codes for lactase is active in babies and then turned off at about age four. When people\nwho don't make lactase consume milk, they experience gas, nausea, and discomfort. But some people\nhave a variation in a genetic switch that keeps the lactase gene active. This variation is\ncalled \"lactase persistence,\" and people who have it can keep milk in their diets even as adults.\u003c/p\u003e\u003c/div\u003e\u003cdiv class=\"uk-width-medium-4-10\"\u003e\u003cfigure\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/mut3.jpg\" height=\"340\" width=\"352\" alt=\"switches\"\u003e\u003c/figure\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"lg-section lg-pod-title\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ch2\u003eOther drivers of mutation: Environmental agents\u003c/h2\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-medium-6-10\"\u003e\u003cp\u003eRadiation, chemicals, byproducts of cellular metabolism, free radicals, ultraviolet rays from\nthe sun—these agents damage thousands of nucleotides in each of our cells every day. They\naffect the nucleotides themselves: converting one base to another, knocking a base off its\nbackbone, or even causing a break in the DNA strand.\u003c/p\u003e\u003c/div\u003e\u003cdiv class=\"uk-width-medium-4-10\"\u003e\u003cfigure\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/mut4.jpg\" height=\"340\" width=\"352\" alt=\"agents\"\u003e\u003c/figure\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003carticle class=\"lg-pod lg-section\"\u003e\u003cdiv class=\"lg-section lg-pod-title\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ch2\u003eDNA Repair\u003c/h2\u003e\u003c/div\u003e\u003c/div\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003cdiv class=\"lg-pod-body uk-grid\" data-uk-grid-margin=\"data-uk-grid-margin\"\u003e\u003cdiv class=\"uk-width-medium-6-10\"\u003e\u003cp\u003eMost of the time, mutation is reversed. DNA repair machines are constantly at work in our\ncells, fixing mismatched nucleotides and splicing broken DNA strands back together. Yet some\nDNA changes remain. If a cell accumulates too many changes—if its DNA is so damaged that\nrepair machinery cannot fix it—it either stops dividing or it self-destructs. If any of\nthese processes go wrong, the cell could become cancerous.\u003c/p\u003e \u003cp\u003eWhen we put on sun screen, we are protecting ourselves against mutation in somatic\ncells—the cells that make up the body and are not involved in reproduction. Only when DNA\nchanges are carried in egg and sperm cells are they passed to the next generation. Believe\nit or not, a certain amount of sloppiness is built into the system. Without mutation there\nwould be no variation, and without variation there would be no evolution.\u003c/p\u003e\u003c/div\u003e \u003cdiv class=\"uk-width-medium-4-10\"\u003e\u003cfigure\u003e\u003cimg src=\"https://learn-genetics.b-cdn.net/basics/mutation/images/mut5.jpg\" height=\"340\" width=\"352\" alt=\"repair\"\u003e\u003c/figure\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/article\u003e\u003cdiv class=\"lg-section\"\u003e\u003cdiv class=\"uk-container uk-container-center\"\u003e\u003ca href=\"#references\" data-uk-modal=\"data-uk-modal\"\u003eReferences\u003c/a\u003e\u003cdiv class=\"uk-modal\" id=\"references\"\u003e\u003cdiv class=\"uk-modal-dialog\"\u003e\u003ca class=\"uk-modal-close uk-close\"\u003e\u003c/a\u003e\u003ch2\u003eReferences\u003c/h2\u003e\u003cp\u003eBaer, C. F., Miyamoto, M. M., \u0026amp; Denver, D. R. (2007). Mutation rate variation in multicellular eukaryotes: causes and consequences. Nature Reviews Genetics, 8(8), 619-631.\u003c/p\u003e\u003cp\u003eBarnes, D. E., \u0026amp; Lindahl, T. (2004). Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu. Rev. Genet., 38, 445-476.\u003c/p\u003e\u003cp\u003eCampbell, C. D., \u0026amp; Eichler, E. E. (2013). Properties and rates of germline mutations in humans. Trends in Genetics, 29(10), 575-584.\u003c/p\u003e\u003cp\u003eHoeijmakers, J. H. (2009). DNA damage, aging, and cancer. New England Journal of Medicine, 361(15), 1475-1485.\u003c/p\u003e\u003cp\u003eJackson, S. P., \u0026amp; Bartek, J. (2009). The DNA-damage response in human biology and disease. Nature, 461(7267), 1071-1078.\u003c/p\u003e\u003cp\u003eRoach, J. C., Glusman, G., Smit, A. F., Huff, C. D., Hubley, R., Shannon, P. T., ... \u0026amp; Shendure, J. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science, 328(5978), 636-639. doi:10.1126/science.1186802\u003c/p\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e\u003c/div\u003e"])</script><script>self.__next_f.push([1,"22:T97d,"])</script><script>self.__next_f.push([1,"\u003cscript src=\"https://learn-genetics.b-cdn.net/lib/jquery.min.js\"\u003e\u003c/script\u003e\u003cscript src=\"https://learn-genetics.b-cdn.net/lib/uikit.min.js\"\u003e\u003c/script\u003e\u003cscript type=\"text/javascript\" src=\"https://gslcutah.atlassian.net/s/d41d8cd98f00b204e9800998ecf8427e-T/-9zew5j/b/7/c95134bc67d3a521bb3f4331beb9b804/_/download/batch/com.atlassian.jira.collector.plugin.jira-issue-collector-plugin:issuecollector/com.atlassian.jira.collector.plugin.jira-issue-collector-plugin:issuecollector.js?locale=en-US\u0026amp;collectorId=c1ab2cff\"\u003e//use this one \u003c/script\u003e\u003cscript\u003e//- $(document).ready(function() {\n \n window.ATL_JQ_PAGE_PROPS = $.extend(window.ATL_JQ_PAGE_PROPS, {\n 'c1ab2cff' : {\n environment : {'URL': window.location.href },\n fieldValues : {\n customfield_10064: window.location.href,\n customfield_10067: window.document.title,\n customfield_10068: ['10110','10111']\n\n }\n },\n 'a654175d':{\n fieldValues : {\n customfield_10064: window.location.href,\n }\n\n } \n //- environment : function() {var env_info = {}; 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