OMIA:000441-9913 : Hairy in Bos taurus (taurine cattle)
In other species: turkey
Categories: Integument (skin) phene
Links to MONDO diseases: No links.
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)
|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|
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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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|216||Holstein Friesian (Cattle) Jersey (Cattle) Simmental (Cattle)||Hairy||PRL||missense||Naturally occurring variant||ARS-UCD1.2||23||g.35332871A>C||c.661A>C||p.(C221G)||ENSBTAT00000020313.4:c.661T>G ENSBTAP00000020313.3:p.Cys221Gly||rs520582588||rs520582588||2014||25519203||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
Cite this entry
|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.|
- Created by Frank Nicholas on 12 Nov 2015
- Changed by Frank Nicholas on 12 Nov 2015