OMIA 000214-89462 : Coat colour, white spotting in Bubalus bubalis

In other species: domestic cat , dog , cattle , horse , domestic guinea pig

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

Mendelian trait/disorder: yes

Considered a defect: unknown

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MITF microphthalmia-associated transcription factor Bubalus bubalis 21 NC_037565.1 (31834475..31604069) MITF Homologene, Ensembl, NCBI gene

Variants

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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.

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
Swamp White spotting MITF nonsense (stop-gain) c.328C>T p.R110* 2015 26417640
Swamp White spotting MITF splicing c.840+2T>A 2015 26417640

Reference


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.

Edit History


  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015