Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome.

ABSTRACT: Livestock populations can be used to study recessive defects caused by deleterious alleles. The frequency of deleterious alleles including recessive lethal alleles can stay at high or moderate frequency within a population, especially if recessive lethal alleles exhibit an advantage for favourable traits in heterozygotes. In this study, we report such a recessive lethal deletion of 212kb (del) within the BBS9 gene in a breeding population of pigs. The deletion produces a truncated BBS9 protein expected to cause a complete loss-of-function, and we find a reduction of approximately 20% on the total number of piglets born from carrier by carrier matings. Homozygous del/del animals die mid- to late-gestation, as observed from high increase in numbers of mummified piglets resulting from carrier

SUBMITTER: Derks MFL 

PROVIDER: S-EPMC6166978 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature