OMIA:000214-9913 : Coat colour, white spotting in Bos taurus
In other species: domestic cat , dog , horse , water buffalo , domestic guinea pig , llama
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 193510 (trait) , 103500 (trait) , 156845 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Multifactorial
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2012
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.
Molecular basis: Fontanesi et al. (2012) reported a strong association between an intronic MITF variant and spotted vs non-spotted Italian Holstein and Italian Simmental cattle, explaining that "Variability in the MITF gene clearly explained the differences between spotted and non-spotted phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in Italian Holstein and Italian Simmental cattle breeds."
Hofstetter et al. (2019) "hypothesize[d] that rs722765315 [variant g.31908435G>A in MITF] represents the most likely causative variant for the white-spotting phenotype observed in Brown Swiss cattle. Presence of the mutant allele in a heterozygous or homozygous state supports a dominant mode of inheritance with incomplete penetrance and results in a variable extent of coat colour depigmentation."
From "the largest GWAS of white spotting to date", conducted on New Zealand cattle (Jersey, Holstein-Friesian and their cross), Jivinji et a. (2019) "extend[ed] those [results] of previous studies that reported KIT as a likely causal gene for white spotting, and report novel associations between candidate causal mutations in both the MITF and PAX3 genes."
Breeds: Brown Swiss (Cattle) (VBO_0000166), Holstein (black and white) (Cattle) (VBO_0000237), Holstein Friesian (Cattle) (VBO_0000239), Jersey (Cattle) (VBO_0000250), Mishima, Japan (Cattle) (VBO_0004993), Simmental (Cattle) (VBO_0000380).
|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|
|PAX3||paired box 3||Bos taurus||2||NC_037329.1 (110471285..110369553)||PAX3||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|
|782||Holstein (black and white) (Cattle) Simmental (Cattle)||White spotting||MITF||regulatory||Naturally occurring variant||ARS-UCD1.2||22||g.31650821T>A||c.33+112A>T||UMD3.1 position is g.31769189||rs210634530||rs210634530||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. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
|1018||Brown Swiss (Cattle)||White spotting||MITF||regulatory||Naturally occurring variant||ARS-UCD1.2||22||g.31790063G>A||c.104+53185C>T||FN 190425: The Ensembl entry for rs722765315 lists two transcripts: ENSBTAT00000067269.1:c.104+53185C>T and ENSBTAT00000076082.1:c.-53+31498C>T||rs722765315||rs722765315||2019||30506810||The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries.|
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.
|2023||Shibutani, S., Endo, M., Mizukami, K., Hosoi, E., Sakai, Y., Taniguchi, M., Harada, H., Momozawa, Y., Iwata, H. :|
|Development of a high-throughput screening method for the detection of 188 pathogenic variants and its application in Mishima cattle. Anim Genet 54:416-417, 2023. Pubmed reference: 36785519 . DOI: 10.1111/age.13301.|
|2019||Hofstetter, S., Seefried, F., Häfliger, I.M., Jagannathan, V., Leeb, T., Drögemüller, C., Hofstetter, S., Seefried, F., Häfliger, I.M., Jagannathan, V., Leeb, T., Drögemüller, C. :|
|A non-coding regulatory variant in the 5'-region of the MITF gene is associated with white-spotted coat in Brown Swiss cattle. Anim Genet 50:27-32, 2019. Pubmed reference: 30506810 . DOI: 10.1111/age.12751.|
|Jivanji, S., Worth, G., Lopdell, T.J., Yeates, A., Couldrey, C., Reynolds, E., Tiplady, K., McNaughton, L., Johnson, T.J.J., Davis, S.R., Harris, B., Spelman, R., Snell, R.G., Garrick, D., Littlejohn, M.D. :|
|Genome-wide association analysis reveals QTL and candidate mutations involved in white spotting in cattle. Genet Sel Evol 51:62, 2019. Pubmed reference: 31703548 . DOI: 10.1186/s12711-019-0506-2.|
|2013||Jansen, S., Aigner, B., Pausch, H., Wysocki, M., Eck, S., Benet-Pagès, A., Graf, E., Wieland, T., Strom, T.M., Meitinger, T., Fries, R. :|
|Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage. BMC Genomics 14:446, 2013. Pubmed reference: 23826801 . DOI: 10.1186/1471-2164-14-446.|
|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 80:115-28, 1990. Pubmed reference: 2323567 . DOI: 10.1007/BF00127132.|
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