De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.

ABSTRACT: Although it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here, we describe a method to measure the origination rates of target mutations at target base positions and apply it to a 6-bp region in the human hemoglobin subunit beta (HBB) gene and to the identical, paralogous hemoglobin subunit delta (HBD) region in sperm cells from both African and European donors. The HBB region of interest (ROI) includes the site of the hemoglobin S (HbS) mutation, which protects against malaria, is common in Africa, and has served as a classic example of adaptation by random mutation and natural selection. We found a significant correspondence between de novo mutation rates and past observation

SUBMITTER: Melamed D 

PROVIDER: S-EPMC8896469 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature