Decreased recent adaptation at human mendelian disease genes as a possible consequence of interference between advantageous and deleterious variants.

ABSTRACT: Advances in genome sequencing have improved our understanding of the genetic basis of human diseases, and thousands of human genes have been associated with different diseases. Recent genomic adaptation at disease genes has not been well characterized. Here, we compare the rate of strong recent adaptation in the form of selective sweeps between mendelian, non-infectious disease genes and non-disease genes across distinct human populations from the 1000 Genomes Project. We find that mendelian disease genes have experienced far less selective sweeps compared to non-disease genes especially in Africa. Investigating further the possible causes of the sweep deficit at disease genes, we find that this deficit is very strong at disease genes with both low recombination rates and with high numbers

SUBMITTER: Di C 

PROVIDER: S-EPMC8526059 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature