OMIA 000542-9913 : Hypotrichosis, streaked in Bos taurus
No alteration in the production of milk was reported but, with respect to the cows’ fertility, the owner reported that one affected cow failed to conceive for five successive inseminations, which might possibly have been due to embryonic lethality in male hemizygous mutant embryos.Pathology: Murgiano et al. (2015) reported that hair follicles in biopsies from the haired skin were normally distributed, and size and shape were comparable with hair follicles in skin biopsies from non-affected cows. In the skin biopsies from the hairless sites, the vast majority of the hair follicles and sebaceous glands were missing whereas the sweat glands, their ducts and the arrector pili muscles were present. Dysplastic or miniaturized hair bulbs or remnant fibrous sheaths surrounding the bulb were occasionally present. In addition, remnants of infundibula were rarely seen. In the biopsies from the haired-hairless border, a mixture of normal hair follicles and dysplastic infundibuli were present. The dysplastic infundibula were smaller than those of normal hair follicles, had an irregular outer contour and were often associated with the sebaceous glands and the ducts of the sweat glands. Breeds: Holstein-Friesian, Pezzata Rossa. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TSR2||TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)||Bos taurus||X||NC_037357.1 (91960654..91965628)||TSR2||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.
|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|
|Pezzata Rossa||Hypotrichosis, streaked||TSR2||splicing||UMD3.1||X||g.97363937A>G||c.441+226A>G||2015||26203908||Breed and variant information kindly provided or confirmed by Matt McClure and Jennifer McClure from "Understanding Genetics and Complete Genetic Disease and Trait Definition (Expanded 2016 Edition)" (https://www.icbf.com/wp/?page_id=2170)|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2016||Murgiano, L., Shirokova, V., Welle, M.M., Jagannathan, V., Plattet, P., Oevermann, A., Pienkowska-Schelling, A., Gallo, D., Gentile, A., Mikkola, M.L., Drögemüller, C. :|
|Correction: Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS Genet 12:e1005688, 2016. Pubmed reference: 27135403. DOI: 10.1371/journal.pgen.1005688.|
|2015||Murgiano, L., Shirokova, V., Welle, M.M., Jagannathan, V., Plattet, P., Oevermann, A., Pienkowska-Schelling, A., Gallo, D., Gentile, A., Mikkola, M., Drögemüller, C. :|
|Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. PLoS Genet 11:e1005427, 2015. Pubmed reference: 26203908. DOI: 10.1371/journal.pgen.1005427.|
|1953||Eldridge, F.E., Atkeson, F.W. :|
|Streaked hairlessness in Holstein-Friesian cattle. A sex-linked lethal character Journal of Heredity 44:265-271, 1953.|
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