Publication Date:
2011-02-19
Description:
Efforts to identify the genetic basis of human adaptations from polymorphism data have sought footprints of "classic selective sweeps" (in which a beneficial mutation arises and rapidly fixes in the population).Yet it remains unknown whether this form of natural selection was common in our evolution. We examined the evidence for classic sweeps in resequencing data from 179 human genomes. As expected under a recurrent-sweep model, we found that diversity levels decrease near exons and conserved noncoding regions. In contrast to expectation, however, the trough in diversity around human-specific amino acid substitutions is no more pronounced than around synonymous substitutions. Moreover, relative to the genome background, amino acid and putative regulatory sites are not significantly enriched in alleles that are highly differentiated between populations. These findings indicate that classic sweeps were not a dominant mode of human adaptation over the past ~250,000 years.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669691/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉 〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669691/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hernandez, Ryan D -- Kelley, Joanna L -- Elyashiv, Eyal -- Melton, S Cord -- Auton, Adam -- McVean, Gilean -- 1000 Genomes Project -- Sella, Guy -- Przeworski, Molly -- 086084/Wellcome Trust/United Kingdom -- GM083228/GM/NIGMS NIH HHS/ -- GM087069/GM/NIGMS NIH HHS/ -- GM20373/GM/NIGMS NIH HHS/ -- GM72861/GM/NIGMS NIH HHS/ -- R01 GM072861/GM/NIGMS NIH HHS/ -- R01 HG007644/HG/NHGRI NIH HHS/ -- U54 HG003273/HG/NHGRI NIH HHS/ -- WT086084MA/Wellcome Trust/United Kingdom -- Howard Hughes Medical Institute/ -- New York, N.Y. -- Science. 2011 Feb 18;331(6019):920-4. doi: 10.1126/science.1198878.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21330547" target="_blank"〉PubMed〈/a〉
Keywords:
Adaptation, Biological
;
Amino Acid Substitution
;
*Biological Evolution
;
Chromosomes, Human, X/genetics
;
Conserved Sequence
;
Evolution, Molecular
;
Exons
;
Gene Frequency
;
*Genetic Variation
;
*Genome, Human
;
Haplotypes
;
Humans
;
Models, Genetic
;
Molecular Sequence Annotation
;
Mutation
;
Polymorphism, Single Nucleotide
;
Recombination, Genetic
;
*Selection, Genetic
;
Untranslated Regions
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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