A gene-based model of fitness and its implications for genetic variation: Linkage disequilibrium.

ABSTRACT: A widely used model of the effects of mutations on fitness (the "sites" model) assumes that heterozygous recessive or partially recessive deleterious mutations at different sites in a gene complement each other, similarly to mutations in different genes. However, the general lack of complementation between major effect allelic mutations suggests an alternative possibility, which we term the "gene" model. This assumes that a pair of heterozygous deleterious mutations in trans behave effectively as homozygotes, so that the fitnesses of trans heterozygotes are lower than those of cis heterozygotes. We examine the properties of the two different models, using both analytical and simulation methods. We show that the gene model predicts positive linkage disequilibrium (LD) b

SUBMITTER: Johri P 

PROVIDER: S-EPMC11870398 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature