De novo rates of a <i>Trypanosoma</i>-resistant mutation in two human populations.

ABSTRACT: Mutation rates have long been measured as averages across many genomic positions. Recently, a method to measure the rates of individual mutations was applied to a narrow region in the human hemoglobin subunit beta (HBB) gene containing the site of the hemoglobin S (HbS) mutation as well as to a paralogous hemoglobin subunit delta (HBD) region, in sperm samples from sub-Saharan African and northern European donors [Melamed et al., Genome Res. 32, 488-498 (2022)]. The HbS mutation, which protects against malaria while causing sickle-cell anemia in homozygotes, originated de novo significantly more frequently in the HBB gene in Africans compared to the other three test cases combined (the European HBB gene and the European and African HBD

SUBMITTER: Melamed D 

PROVIDER: S-EPMC12415191 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature