Human genetic variation: Difference between revisions

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Corrected inaccurate information about modern human genetic variation.
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As of 2015, the typical difference between an individual's genome and the reference genome was estimated at 20 million base pairs (or 0.6% of the total of 3.2 billion base pairs).<ref name="kGP15" />
 
Comparatively speaking, humans are a genetically homogenous species. Although a small number of genetic variants are found more frequently in certain geographic regions or in people with ancestry from those regions, this variation accounts for a small percentage of the human genome (~15%). For comparison, [[Rhesus macaque|rhesus macaques]] exhibit 2.5-fold greater DNA sequence diversity compared to humans.<ref>{{Cite journal |last=Xue |first=Cheng |last2=Raveendran |first2=Muthuswamy |last3=Harris |first3=R. Alan |last4=Fawcett |first4=Gloria L. |last5=Liu |first5=Xiaoming |last6=White |first6=Simon |last7=Dahdouli |first7=Mahmoud |last8=Deiros |first8=David Rio |last9=Below |first9=Jennifer E. |last10=Salerno |first10=William |last11=Cox |first11=Laura |date=2016-12-01 |title=The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences |url=https://genome.cshlp.org/content/26/12/1651 |journal=Genome Research |language=en |volume=26 |issue=12 |pages=1651–1662 |doi=10.1101/gr.204255.116 |issn=1088-9051 |pmid=27934697}}</ref>
Alleles occur at different frequencies in different human populations. Populations that are more [[genetic distance|geographically and ancestrally remote]] tend to differ more. The differences between populations represent a small proportion of overall human genetic variation. Populations also differ in the quantity of variation among their members.
The greatest divergence between populations is found in [[sub-Saharan Africa]], consistent with the [[Recent African origin of modern humans|recent African origin]] of non-African populations.
Populations also vary in the proportion and locus of [[introgression|introgressed]] genes they received by [[archaic admixture]] both inside and outside of Africa.
 
If you select two humans at random from two different populations, it is likely that they will share more genetic information between them than a pair of individuals randomly selected from a single population.<ref>{{Cite journal |last=Witherspoon |first=D. J. |last2=Wooding |first2=S. |last3=Rogers |first3=A. R. |last4=Marchani |first4=E. E. |last5=Watkins |first5=W. S. |last6=Batzer |first6=M. A. |last7=Jorde |first7=L. B. |title=Genetic Similarities Within and Between Human Populations |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1893020/ |journal=Genetics |volume=176 |issue=1 |pages=351–359 |doi=10.1534/genetics.106.067355 |issn=0016-6731 |pmc=1893020 |pmid=17339205}}</ref> This is because there is more genetic variation ''within'' populations than between them.<ref>{{Cite journal |last=Witherspoon |first=D. J. |last2=Wooding |first2=S. |last3=Rogers |first3=A. R. |last4=Marchani |first4=E. E. |last5=Watkins |first5=W. S. |last6=Batzer |first6=M. A. |last7=Jorde |first7=L. B. |title=Genetic Similarities Within and Between Human Populations |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1893020/ |journal=Genetics |volume=176 |issue=1 |pages=351–359 |doi=10.1534/genetics.106.067355 |issn=0016-6731 |pmc=1893020 |pmid=17339205}}</ref> The greatest diversity is found among populations in [[Africa|Africa,]]<ref>{{Cite journal |last=Campbell |first=Michael C. |last2=Tishkoff |first2=Sarah A. |date=2008 |title=AFRICAN GENETIC DIVERSITY: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953791/ |journal=Annual review of genomics and human genetics |volume=9 |pages=403–433 |doi=10.1146/annurev.genom.9.081307.164258 |issn=1527-8204 |pmc=2953791 |pmid=18593304}}</ref> and gradually declines with increasing distance from the African continent, consistent with the [[Recent African origin of modern humans|Out of Africa]] theory of human origins.<ref>{{Cite journal |last=Campbell |first=Michael C. |last2=Tishkoff |first2=Sarah A. |date=2008 |title=AFRICAN GENETIC DIVERSITY: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2953791/ |journal=Annual review of genomics and human genetics |volume=9 |pages=403–433 |doi=10.1146/annurev.genom.9.081307.164258 |issn=1527-8204 |pmc=2953791 |pmid=18593304}}</ref>
The study of human genetic variation has evolutionary significance and medical applications. It can help scientists understand ancient human population migrations as well as how human groups are biologically related to one another. For medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in people from specific geographic regions. New findings show that each human has on average 60 new mutations compared to their parents.<ref>
 
The study of human genetic variation has evolutionary significance and medical applications. It can help scientists reconstruct and understand patterns of past human migration. In medicine, study of human genetic variation may be important because some disease-causing alleles occur more often in certain geographic regions, e.g., the mutation for sickle-cell anemia is more often found in people with ancestry near the Mediterranean or in sub-Saharan Africa, due to the evolutionary pressure from mosquitos carrying malaria in these regions. Note that the geographic association of these genetic variants do not correlate with "race" or racial identity, which are not genetic traits (i.e., you cannot group people into genetically distinct groups using observable phenotypic features that a person might perceive as one "race").
 
New findings show that each human has on average 60 new mutations compared to their parents.<ref>
{{cite web
|title=We are all mutants: First direct whole-genome measure of human mutation predicts 60 new mutations in each of us