Integrating sex-bias into studies of archaic introgression on chromosome X

Male European People Genome X Chromosome Genome, Human Hominidae QH426-470 Genetic Introgression Sex Factors Asian People Haplotypes South Asian People Genetics Animals Humans Chromosomes, Human Female Research Article Neanderthals
DOI: 10.1371/journal.pgen.1010399 Publication Date: 2023-08-14T17:30:17Z
ABSTRACT
Evidence of interbreeding between archaic hominins and humans comes from methods that infer the locations of segments of archaic haplotypes, or ‘archaic coverage’ using the genomes of people living today. As more estimates of archaic coverage have emerged, it has become clear that most of this coverage is found on the autosomes— very little is retained on chromosome X. Here, we summarize published estimates of archaic coverage on autosomes and chromosome X from extant human samples. We find on average 7 times more archaic coverage on autosomes than chromosome X, and identify broad continental patterns in this ratio: greatest in European samples, and least in South Asian samples. We also perform extensive simulation studies to investigate how the amount of archaic coverage, lengths of coverage, and rates of purging of archaic coverage are affected by sex-bias caused by an unequal sex ratio within the archaic introgressors. Our results generally confirm that, with increasing male sex-bias, less archaic coverage is retained on chromosome X. Ours is the first study to explicitly model such sex-bias and its potential role in creating the dearth of archaic coverage on chromosome X.
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