In frame exon skipping in UBE3B is associated with developmental disorders and increased mortality in cattle.

ABSTRACT:

Background

Inherited developmental diseases can cause severe animal welfare and economic problems in dairy cattle. The use of a small number of bulls for artificial insemination (AI) carries a risk that recessive defects rapidly enrich in the population. In recent years, an increasing number of Finnish Ayrshire calves have been identified with signs of ptosis, intellectual disability, retarded growth and mortality, which constitute an inherited disorder classified as PIRM syndrome.

Results

We established a cohort of nine PIRM-affected calves and 38 unaffected half-siblings and performed a genome-wide association study (GWAS) to map the disease to a 700-kb region on bovine chromosome 17 (p = 1.55 × 10-9). Whole genome re-sequencing of an unaffected carrier, its affected proge

SUBMITTER: Venhoranta H 

PROVIDER: S-EPMC4203880 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature