Inference of Human Population History From Whole Genome Sequence of A Single Individual

The history of human population size is important to understanding human evolution. Various studies1-5 have found evidence for a founder event (bottleneck) in East Asian and European populations associated with the human dispersal out-of-Africa event around 60 thousand years ago (kya) before present...

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Main Authors: Li, Heng, Durbin, Richard
Format: Online
Language:English
Published: 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154645/
id pubmed-3154645
recordtype oai_dc
spelling pubmed-31546452012-01-28 Inference of Human Population History From Whole Genome Sequence of A Single Individual Li, Heng Durbin, Richard Article The history of human population size is important to understanding human evolution. Various studies1-5 have found evidence for a founder event (bottleneck) in East Asian and European populations associated with the human dispersal out-of-Africa event around 60 thousand years ago (kya) before present. However, these studies have to assume simplified demographic models with few parameters and do not precisely date the start and stop times of the bottleneck. Here, with fewer assumptions on population size changes, we present a more detailed history of human population sizes between approximately ten thousand to a million years ago, using the pairwise sequentially Markovian coalescent (PSMC) model applied to the complete diploid genome sequences of a Chinese male (YH)6, a Korean male (SJK)7, three European individuals (Venter8, NA12891 and NA128789) and two Yoruba males (NA1850710 and NA19239). We infer that European and Chinese populations had very similar population size histories before 10–20kya. Both populations experienced a severe bottleneck between 10–60kya while African populations experienced a milder bottleneck from which they recovered earlier. All three populations have an elevated effective population size between 60–250kya, possibly due to a population structure11. We also infer that the differentiation of genetically modern humans may have started as early as 100–120kya12, but considerable genetic exchanges may still have occurred until 20–40kya. 2011-07-13 /pmc/articles/PMC3154645/ /pubmed/21753753 http://dx.doi.org/10.1038/nature10231 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Li, Heng
Durbin, Richard
spellingShingle Li, Heng
Durbin, Richard
Inference of Human Population History From Whole Genome Sequence of A Single Individual
author_facet Li, Heng
Durbin, Richard
author_sort Li, Heng
title Inference of Human Population History From Whole Genome Sequence of A Single Individual
title_short Inference of Human Population History From Whole Genome Sequence of A Single Individual
title_full Inference of Human Population History From Whole Genome Sequence of A Single Individual
title_fullStr Inference of Human Population History From Whole Genome Sequence of A Single Individual
title_full_unstemmed Inference of Human Population History From Whole Genome Sequence of A Single Individual
title_sort inference of human population history from whole genome sequence of a single individual
description The history of human population size is important to understanding human evolution. Various studies1-5 have found evidence for a founder event (bottleneck) in East Asian and European populations associated with the human dispersal out-of-Africa event around 60 thousand years ago (kya) before present. However, these studies have to assume simplified demographic models with few parameters and do not precisely date the start and stop times of the bottleneck. Here, with fewer assumptions on population size changes, we present a more detailed history of human population sizes between approximately ten thousand to a million years ago, using the pairwise sequentially Markovian coalescent (PSMC) model applied to the complete diploid genome sequences of a Chinese male (YH)6, a Korean male (SJK)7, three European individuals (Venter8, NA12891 and NA128789) and two Yoruba males (NA1850710 and NA19239). We infer that European and Chinese populations had very similar population size histories before 10–20kya. Both populations experienced a severe bottleneck between 10–60kya while African populations experienced a milder bottleneck from which they recovered earlier. All three populations have an elevated effective population size between 60–250kya, possibly due to a population structure11. We also infer that the differentiation of genetically modern humans may have started as early as 100–120kya12, but considerable genetic exchanges may still have occurred until 20–40kya.
publishDate 2011
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3154645/
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