A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle.

ABSTRACT:

Background

Osteopetrosis is a skeletal disorder of humans and animals characterized by the formation of overly dense bones, resulting from a deficiency in the number and/or function of bone-resorbing osteoclast cells. In cattle, osteopetrosis can either be induced during gestation by viral infection of the dam, or inherited as a recessive defect. Genetically affected calves are typically aborted late in gestation, display skull deformities and exhibit a marked reduction of osteoclasts. Although mutations in several genes are associated with osteopetrosis in humans and mice, the genetic basis of the cattle disorder was previously unknown.

Results

We have conducted a whole-genome association analysis to identify the mutation responsible for inherited osteopetrosis in Red Angus

SUBMITTER: Meyers SN 

PROVIDER: S-EPMC2891616 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature