Current insights into the molecular genetic basis of dwarfism in livestock. (June 2017) - Boegheim, Iris J.M.
Highlights: Many forms of dwarfism are inherited and result from disrupted signalling pathways or structural disruptions. Dwarfism can be categorised as either proportionate or disproportionate. Genetic forms of dwarfism in livestock occur in cattle, sheep and horse breeds, chicken strains and in a breed of goat. Different genes have been found for dwarfism in animals using high-density SNP arrays and genome sequencing. PCR-based gene test have been developed for cattle and horse breeds. Abstract: Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR. Furthermore, mutations in IHH are the underlying cause of creeper achondroplasia in chickens. Belgian blue cattle display proportionate dwarfism caused by a mutation in RNF11, while American Angus cattle dwarfism is caused by a mutation in PRKG2. Mutations in EVC2 are associated with dwarfism in Japanese brown cattle and Tyrolean grey cattle. Fleckvieh dwarfism is caused by mutations in the GON4L gene. Mutations in COL10A1 and COL2A1 cause dwarfism in pigs and Holstein cattle, both associated with structural disruptions, while several mutations in ACAN are associated with bulldog-type dwarfism in Dexter cattle and dwarfism in American miniature horses. In other equine breeds, such as Shetland ponies and Friesian horses, dwarfism is caused by mutations in SHOX and B4GALT7 . In Texel sheep, chondrodysplasia is associated with a deletion in SLC13A1 . This review discusses genes known to be involved in these and other forms of dwarfism in livestock.