OMIA:000214-89462 : Coat colour, white spotting in Bubalus bubalis
In other species: domestic cat , dog , cattle , horse , 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: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2015
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: Yusnizar et al. (2015): "Two independent loss-of-function mutations, a premature stop codon (c.328C>T, p.Arg110*) and a donor splice-site mutation (c.840+2T>A, p.Glu281_Leu282Ins8), both of which cause white-spotted coat color in swamp buffaloes, were identified. The nonsense mutation leads to a premature stop codon in exon 3, and likely removal of the resulting mRNA via nonsense-mediated decay pathway, whereas the donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF. The resulting insertion of eight amino acid residues is expected to perturb the leucine zipper part in the basic helix-loop-helix leucine zipper (bHLH-Zip) domain and will most likely influence dimerization and DNA binding capacity."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|MITF||microphthalmia-associated transcription factor||Bubalus bubalis||21||NC_059177.1 (31775071..31544437)||MITF||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|
|341||Swamp buffalo (Buffalo)||White spotting||MITF||nonsense (stop-gain)||Naturally occurring variant||c.328C>T||p.(R110*)||2015||26417640|
|409||Swamp buffalo (Buffalo)||White spotting||MITF||splicing||Naturally occurring variant||c.840+2T>A||2015||26417640|
|2015||Yusnizar, Y., Wilbe, M., Herlino, A.O., Sumantri, C., Noor, R.R., Boediono, A., Andersson, L., Andersson, G. :|
|Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo. Anim Genet 46:676-682, 2015. Pubmed reference: 26417640 . DOI: 10.1111/age.12334.|
- Changed by Frank Nicholas on 31 Dec 2015
- Created by Frank Nicholas on 31 Dec 2015
- Changed by Frank Nicholas on 15 May 2020