Recombination affects allele-specific expression of deleterious variants in human populations

• DOI: 10.1126/sciadv.abl3819
• Publication Date: 2022-05-13T17:57:20Z
• Authors: Michelle P. Harwood; Isabel Alves; Hilary Edgington; Mawusse Agbessi; Vanessa Bruat; David Soave; Fabien C. Lamaze; Marie-Julie Favé; Philip Awadalla
• Keywords: Recombination, Genetic; 0303 health sciences; 03 medical and health sciences; Genetic Drift; Genetic Variation; Humans; Biomedicine and Life Sciences; Selection, Genetic; Alleles

How the genetic composition of a population changes through stochastic processes, such as drift, in combination with deterministic selection, is critical to understanding how phenotypes vary space and time. Here, we show evolutionary forces affecting including recombination effective size, drive genomic patterns allele-specific expression (ASE). Integrating tissue-specific genotypic transcriptomic data from 1500 individuals two different cohorts, demonstrate that ASE less often observed regions low recombination, loci high or normal are more efficient at using underexpress harmful mutations. By tracking ancestry, discriminate between variability due past demographic effects, subsequent bottlenecks, versus local environment. We observe not randomly distributed along genome parameters influencing efficacy natural selection alter levels wide.