Coat-colour dilution and hypotrichosis in Hereford crossbred calves

AIM: To investigate cases of coat-colour dilution and hypotrichosis in a group of Hereford x Friesian crossbred calves, and to define the underlying molecular genetics of the disorder. METHODS: The investigation was predicated on the hypothesis that this disorder was similar to a known dominantly inherited disorder of calves of black breeds crossed with Simmental cattle, for which there were candidate gene mutations. Sequence analyses of PCR amplicons from exon 1 and exon 11 of the premelanosome protein 17 gene (PMel17) were carried out. Restriction enzyme digestions of amplicons were followed using electrophoresis of digested fragments. RESULTS: It was shown that an affected calf and its Hereford sire were heterozygous for a three-base deletion in exon 1 of the PMel17 gene. These two animals were also heterozygous for a second mutation in exon 11 of the PMel17 gene. Four other related animals were likewise heterozygous for both mutations in the sire's herd of origin. CONCLUSIONS: Coat-colour dilution and hypotrichosis in Hereford crossbred calves in New Zealand is the same genetic disorder as that previously described in Simmental crossbred calves, and is linked to mutations in the PMel17 gene.