In other species: turkey

Categories: Integument (skin) phene

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Disease-related: no

Key variant known: yes

Year key variant first reported: 2014

Species-specific name: slick

History: Littlejohn et al. (2014) reported that in 2011, they "identified a spontaneous, dominant genetic syndrome in Bos taurus, presenting as a collection of unusual phenotypes including lactation failure, excessively ‘hairy’ pelage and thermoregulatory dysfunction" which they named the hairy syndrome.

Mapping: By "genome-wide transmission disequilibrium testing using 628,278 single-nucleotide polymorphisms (SNPs) in 22 nuclear trios and 55 half-sib offspring of the two founder sires", Littlejohn et al. (2014) mapped this syndrome to a region on chromosome BTA23.

Molecular basis: By sequencing the most likely functional positional candidate gene from the mapped region (see Mapping section), Littlejohn et al. (2014) identified a causal mutation as a "nonsynonymous SNP in exon 5 [that] encodes a p.Cys221Gly substitution highly conserved across vertebrates and other structurally related hormones, disrupting one of three disulphide bonds defining the three-dimensional (3D) structure of mature prolactin hormone" (ss1067289409; chr23:35105313A>C)

Breeds: Holstein Friesian (Cattle) (VBO_0000239), Jersey (Cattle) (VBO_0000250), Simmental (Cattle) (VBO_0000380).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: