Neanderthal introgressed ancestry reveals human genomic regions enriched with recessive deleterious mutations.

ABSTRACT: Negative natural selection on deleterious mutations plays a key role in shaping human genetic variation. Understanding the dominance of deleterious mutations is critical as it can fundamentally impact the rate and efficiency of natural selection, the magnitude of inbreeding depression, and the prevalence and evolution of genetic diseases. Despite its inarguable importance, the dominance effects of mutations remain poorly understood in humans, primarily because existing statistical methods cannot distinguish them from the overall selective effects of mutations. In this work, we take a fundamentally different approach to infer dominance by leveraging the distribution of Neanderthal ancestry across the human genome. We show through simulations that recessive deleterious mutations lead to an i

SUBMITTER: Zhang X 

PROVIDER: S-EPMC12248111 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature