Searching for homozygous haplotype deficiency in Manech Tete Rousse dairy sheep revealed a nonsense variant in the MMUT gene affecting newborn lamb viability.

ABSTRACT:

Background

Recessive deleterious variants are known to segregate in livestock populations, as in humans, and some may be lethal in the homozygous state.

Results

We used phased 50 k single nucleotide polymorphism (SNP) genotypes and pedigree data to scan the genome of 6845 Manech Tête Rousse dairy sheep to search for deficiency in homozygous haplotypes (DHH). Five Manech Tête Rousse deficient homozygous haplotypes (MTRDHH1 to 5) were identified, with a homozygous deficiency ranging from 84 to 100%. These haplotypes are located on Ovis aries chromosome (OAR)1 (MTRDHH2 and 3), OAR10 (MTRDHH4), OAR13 (MTRDHH5), and OAR20 (MTRDHH1), and have carrier frequencies ranging from 7.8 to 16.6%. When comparing at-risk matings between DHH carriers to safe matings between non-carriers, two

SUBMITTER: Ben Braiek M 

PROVIDER: S-EPMC10905913 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature