OMIA 002101-9913 : Oculocutaneous hypopigmentation in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2015

Key variant is published: no

Species-specific symbol: OH

History: As reported by Hollman et al. (2017), via a personal communication from Dr Jon Beever, "Recently an alteration of iris coloration has been observed in Angus and Simmental breed. Affected cattle showed an oculocutaneous hypopigmentation (OH) with a pale blue iris and a tan periphery coupled with a change in coat color from black to chocolate. It is assumed that this aberration was introduced into the Simmental breed in the late 1950s by Angus founders and is inherited as an autosomal recessive trait." As described by Dr Beever in a 2015 press release from the American Simmental Association (Anon., 2015), "In the spring of 2012, the American Simmental Association (ASA) received an abnormality report indicating the occurrence of a newborn calf with “white-colored” eyes and a diluted hair coat (see picture at right)."

Molecular basis: As reported by Hollman et al. (2017), via a personal communication from Dr Jon Beever, "An amino acid exchange in the Ras-related Protein Rab-38 (RAB38) gene was identified as the disease causing mutation". A 2015 press release from the American Simmental Association (Anon., 2015) reported "Recently Dr. Beever has found the causative mutation and developed a diagnostic test for OH." It appears that the mutation arose originally in Angus cattle (Anon., 2015; https://www.angus.org/pub/OH/OHInfo.aspx).

Breeds: Angus, Simmental.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
RAB38 RAB38, member RAS oncogene family Bos taurus 29 NC_037356.1 (7501608..7568917) RAB38 Homologene, Ensembl, NCBI gene

References


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.
2017 Hollmann, A.K., Bleyer, M., Tipold, A., Neßler, J.N., Wemheuer, W.E., Schütz, E., Brenig, B. :
A genome-wide association study reveals a locus for bilateral iridal hypopigmentation in Holstein Friesian cattle. BMC Genet 18:30, 2017. Pubmed reference: 28356055. DOI: 10.1186/s12863-017-0496-4.
2015 Anon. :
Oculocutaneous Hypopigmentation(OH) – A Cosmetic Genetic Trait Affecting Simmental Cattle American Simmental Association eNews release November 11, 2015; https://haveuherd.wordpress.com/2015/11/11/oculocutaneous-hypopigmentationoh-a-cosmetic-genetic-trait-affecting-simmental-cattle/ :, 2015.

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  • Created by Frank Nicholas on 13 Apr 2017
  • Changed by Frank Nicholas on 13 Apr 2017