Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies

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Inherited diseases affecting only the nails in humans are rare; however, humans do not support themselves entirely on one appendage. Horses bear their entire weight on their third toe, resulting in a large amount of force on each hoof. An inherited disease characterized by a phenotype restricted to separation and breaking of the dorsal hoof wall was identified in a specific breed of pony, the Connemara. This disease has been termed hoof wall separation disease (HWSD). Parents of affected ponies appeared clinically normal, suggesting an autosomal recessive mode of inheritance. A genome-wide association analysis identified a region associated with HWSD which was further assessed through whole genome next-generation sequencing and genotyping of potential variants. Here, we present the discovery of a frameshift variant, leading to a premature stop codon in SERPINB11 of HWSD-affected ponies. Significantly decreased expression of the SERPINB11 transcript was identified in the hoof capsule of HWSD-affected ponies. This study describes the first genetic variant associated with a hoof wall specific phenotype and suggests a role of SERPINB11 in maintaining hoof wall structure.

Vyšlo v časopise: Frameshift Variant Associated with Novel Hoof Specific Phenotype in Connemara Ponies. PLoS Genet 11(4): e32767. doi:10.1371/journal.pgen.1005122
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005122

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