Recessive deleterious variation has a limited impact on signals of adaptive introgression in human populations
作者： Xinjun Zhang , Bernard Kim , Kirk E. Lohmueller , Emilia Huerta-Sánchez
DOI: 10.1101/2020.01.13.905174
关键词:
摘要: Admixture with archaic hominins has altered the landscape of genomic variation in modern human populations. Several gene regions have been previously identified as candidates adaptive introgression (AI) that facilitated adaptation to specific environments. However, simulation-based studies suggested population genetics processes other than mutations, such heterosis from recessive deleterious variants private populations before admixture, can also lead patterns data resemble introgression. The extent which presence affect false-positive rate and power current methods detect AI not fully assessed. Here, we used extensive simulations show mutations increase false positive rates tests for compared models without variants. We further examined humans previous that, although may hinder performance detection humans, most signals remained robust when are included null model. While a limited impact on detecting found at least two candidate genes, HYAL2 HLA, particularly susceptible high due mutations. By quantifying parameters heterosis, positives largely attributed exon densities together low recombination regions, be exaggerated by growth recent evolution. Although combination is rare genome, caution still warranted species different composition demographic histories.
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