OMIA 000441-9913 : Hairy in Bos taurus

In other species: turkey

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2014

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)

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PRL prolactin Bos taurus 23 NC_037350.1 (35341308..35332693) PRL Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Fleckvieh Holstein-Friesian Jersey Hairy PRL missense UMD3.1 23 g.35105313A>C c.661A>C p.C221G 2014 25519203 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2014 Littlejohn, M.D., Henty, K.M., Tiplady, K., Johnson, T., Harland, C., Lopdell, T., Sherlock, R.G., Li, W., Lukefahr, S.D., Shanks, B.C., Garrick, D.J., Snell, R.G., Spelman, R.J., Davis, S.R. :
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle. Nat Commun 5:5861, 2014. Pubmed reference: 25519203. DOI: 10.1038/ncomms6861.

Edit History


  • Created by Frank Nicholas on 12 Nov 2015
  • Changed by Frank Nicholas on 12 Nov 2015