OMIA 002081-9913 : Epidermolysis bullosa, simplex, KRT5-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 131760 , 131900 , 601001 , 131800 , 131960 , 609352

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Molecular basis: In a textbook example of how to make use of clinical information to identify a comparative candidate gene (based on the homologous human disorder) namely KRT5 (keratin 5), Ford et al. (2005) showed that this disorder in the offspring of a Friesian-Jersey bull is due to a 4051G>A base substitution in the bovine KRT5 gene, leading to an E478K amino-acid substitution. The bull turned out to be mosaic for a de novo mutation.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
KRT5 keratin 5, type II Bos taurus 5 NC_037332.1 (27367078..27372929) KRT5 Homologene, Ensembl, NCBI gene

Variants

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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
Friesian-Jersey mosaic Epidermolysis bullosa KRT5 missense UMD3.1 5 g.27545478G>A c.1432G>A p.E478K 2005 15955091 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2005 Ford, CA., Stanfield, AM., Spelman, RJ., Smits, B., Ankersmidt-Udy, AE., Cottier, K., Holloway, H., Walden, A., Al-Wahb, M., Bohm, E., Snell, RG., Sutherland, GT. :
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire. J Invest Dermatol 124:1170-6, 2005. Pubmed reference: 15955091. DOI: 10.1111/j.0022-202X.2005.23610.x.

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  • Created by Frank Nicholas on 29 Nov 2016