Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure.

ABSTRACT: The hemoglobin β^S sickle mutation is a textbook case in which natural selection maintains a deleterious mutation at high frequency in the human population. Homozygous individuals for this mutation develop sickle-cell disease, whereas heterozygotes benefit from higher protection against severe malaria. Because the overdominant β^S allele should be purged almost immediately from the population in the absence of malaria, the study of the evolutionary history of this iconic mutation can provide important information about the history of human exposure to malaria. Here, we sought to increase our understanding of the origins and time depth of the β^S mutation in populations with different lifestyles and ecologies, and we analyzed the diversity of HBB in 479 individ

SUBMITTER: Laval G 

PROVIDER: S-EPMC6407493 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature