Article,
Inference of human population history from individual whole-genome sequences
Nature, (July 2011)
Abstract
The history of human population size is important for understand-
ing human evolution. Various studies15 have found evidence for a
founder event (bottleneck) in East Asian and European popula-
tions, associated with the human dispersal out-of-Africa event
around 60 thousand years (kyr) ago. However, these studies have
had to assume simplified demographic models with few parameters,
and they do not provide a precise date for 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 and a million years ago,
using the pairwise sequentially Markovian coalescent model applied
to the complete diploid genome sequences of a Chinese male (YH)6,
a Korean male (SJK)7, three European individuals (J. C. Venter8,
NA12891 and NA12878 (ref. 9)) and two Yoruba males (NA18507
(ref. 10) and NA19239). We infer that European and Chinese popu-
lations had very similar population-size histories before 1020 kyr
ago. Both populations experienced a severe bottleneck 1060 kyr
ago, whereas African populations experienced a milder bottleneck
from which they recovered earlier. All three populations have an
elevated effective population size between 60 and 250 kyr ago, pos-
sibly due to population substructure11. We also infer that the dif-
ferentiation of genetically modern humans may have started as early
as 100120 kyr ago12, but considerable genetic exchanges may still
have occurred until 2040 kyr ago.
