A General Model of Negative Frequency Dependent Selection Explains Global Patterns of Human ABO Polymorphism.

ABSTRACT: The ABO locus in humans is characterized by elevated heterozygosity and very similar allele frequencies among populations scattered across the globe. Using knowledge of ABO protein function, we generated a simple model of asymmetric negative frequency dependent selection and genetic drift to explain the maintenance of ABO polymorphism and its loss in human populations. In our models, regardless of the strength of selection, models with large effective population sizes result in ABO allele frequencies that closely match those observed in most continental populations. Populations must be moderately small to fall out of equilibrium and lose either the A or B allele (N(e) ≤ 50) and much smaller (N(e) ≤ 25) for the complete loss of diversity, which nearly always involved the fixation of the O a

SUBMITTER: Villanea FA 

PROVIDER: S-EPMC4422588 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature