Congenital hypotrichosis in cattle is commonly referred to as "rat-tail" syndrome and is characterized by a dilution of black coat color and morphological changes to the hair shaft and tail switch. Two loci are involved in the inheritance of the rat-tail phenotype, the "extension locus" (MC1R) and an unknown locus. In order to express the rat-tail phenotype the animal must inherit at least one black allele at MC1R and be heterozygous at the unknown locus. The rat-tail locus was previously mapped to an 8.7 cM region of Bos Taurus autosome (BTA) 5. Pmel17 is known to be involved in the expression of pigmentation and maps to the same region of BTA5 as the rat-tail locus. Cattle from a population segregating for the rat-tail syndrome were sequenced at Pmel17 in order to identify putative causative mutations. Two mutations were detected, a three base pair (bp) deletion in exon 1 at codon 18 removing a leucine residue, and a single nucleotide polymorphism (SNP) at codon 612 resulting in an amino acid substitution (A?E). The 3-bp deletion in exon 1 of Pmel17 is in 100% concordance with the rat-tail phenotype in this research population and may be causative of the rat-tail phenotype.
College and Department
Life Sciences; Plant and Wildlife Sciences
BYU ScholarsArchive Citation
Hecht, Benjamin C., "Sequence Analysis of PMEL17 as Candidate Gene for Causing Rat-Tail Syndrome in Cattle" (2006). All Theses and Dissertations. 498.
congenital hypotrichosis, rat-tail syndrome, cattle, coat color genetics, pmel17, candidate gene, angus