An autosomal recessive variant in PYGM causes myophosphorylase deficiency in Red Angus composite cattle.

ABSTRACT:

Background

Between 2020 and 2022, eight calves in a Nebraska herd (composite Simmental, Red Angus, Gelbvieh) displayed exercise intolerance during forced activity. In some cases, the calves collapsed and did not recover. Available sire pedigrees contained a paternal ancestor within 2-4 generations in all affected calves. Pedigrees of the calves' dams were unavailable, however, the cows were ranch-raised and retained from prior breeding seasons, where bulls used for breeding occasionally had a common ancestor. Therefore, it was hypothesized that a de novo autosomal recessive variant was causative of exercise intolerance in these calves.

Results

A genome-wide association analysis utilizing SNP data from 6 affected calves and 715 herd mates, followed by whole-genome sequencing

SUBMITTER: Batt MC 

PROVIDER: S-EPMC11055281 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature