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Curr Opin Genet Dev. 2016 Dec;41:140-149. doi: 10.1016/j.gde.2016.09.007. Epub 2016 Oct 13.

Integrating the signatures of demic expansion and archaic introgression in studies of human population genomics.

Author information

1
Center for Computational Molecular Biology, Brown University, Providence, RI, USA; Department of Ecology and Evolutionary Biology, Brown University, Providence, RI, USA.
2
Center for Computational Molecular Biology, Brown University, Providence, RI, USA; Department of Ecology and Evolutionary Biology, Brown University, Providence, RI, USA. Electronic address: sramachandran@brown.edu.

Abstract

Human population genomic studies have repeatedly observed a decrease in heterozygosity and an increase in linkage disequilibrium with geographic distance from Africa. While multiple demographic models can generate these patterns, many studies invoke the serial founder effect model, in which populations expand from a single origin and each new population's founders represent a subset of genetic variation in the previous population. The model assumes no admixture with archaic hominins, however, recent studies have identified loci in Homo sapiens bearing signatures of archaic introgression. These results appear to contradict the validity of analyses invoking the serial founder effect model, but we show these two perspectives are compatible. We also propose using the serial founder effect model as a null model for determining the signature of archaic admixture in modern human genomes at different geographic and genomic scales.

PMID:
27743539
PMCID:
PMC5161554
DOI:
10.1016/j.gde.2016.09.007
[Indexed for MEDLINE]
Free PMC Article

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