OMIA 000214-9913 : Coat colour, white spotting in Bos taurus

In other species: domestic cat , dog , horse , water buffalo , goat , domestic guinea pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 193510 , 103500

Mendelian trait/disorder: no

Mode of inheritance: Multifactorial

Considered a defect: no

Key variant known: yes

Year key variant first reported: 2010

Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism"), not by failure in the biochemical reactions required for pigment synthesis.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Bos taurus 22 NC_037349.1 (31843514..31614654) MITF Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Holstein Simmental Coat colour, white spotting MITF regulatory UMD3.1 22 g.31769189A>T c.33+112A>T 2012 22486495 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2012 Fontanesi, L., Scotti, E., Russo, V. :
Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. Anim Genet 43:250-6, 2012. Pubmed reference: 22486495. DOI: 10.1111/j.1365-2052.2011.02242.x.
2010 Hayes, B.J., Pryce, J., Chamberlain, A.J., Bowman, P.J., Goddard, M.E. :
Genetic architecture of complex traits and accuracy of genomic prediction: coat colour, milk-fat percentage, and type in Holstein cattle as contrasting model traits. PLoS Genet 6:e1001139, 2010. Pubmed reference: 20927186. DOI: 10.1371/journal.pgen.1001139.
2009 Liu, L., Harris, B., Keehan, M., Zhang, Y. :
Genome scan for the degree of white spotting in dairy cattle. Anim Genet 40:975-7, 2009. Pubmed reference: 19531114. DOI: 10.1111/j.1365-2052.2009.01936.x.
1990 Pape, H. :
The Inheritance of the Piebald Spotting Pattern and Its Variation in Holstein-Friesian Cattle and in Landseer- Newfoundland Dogs Genetica 80:115-128, 1990. Pubmed reference: 2323567.

Edit History


  • Created by Frank Nicholas on 13 Oct 2010
  • Changed by Frank Nicholas on 09 Dec 2011