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Summary  A candidate gene analysis of the  microphthalmia‐associated transcription factor  (  MITF  ) gene was used in an attempt to identify the genetic basis for a white‐spotted coat color phenotype in the Asian swamp buffalo ( Bubalus bubalis carabanensis ). Ninety‐three buffaloes—32 solid, 38 spotted and 23 white individuals—were Sanger‐sequenced for all   MITF   exons as well as highly conserved intronic and flanking regions.   MITF    cDNA  representing skin and iris tissue from six spotted, nine solid and one white buffaloes was also Sanger‐sequenced to confirm detected mutations. 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. Electrophoretic mobility shift assay was performed using mutant and wild‐type  MITF  proteins and showed that the mutant  MITF  protein resulting from the splice‐site mutation decreased  in vitro   DNA  binding capacity compared to wild‐type  MITF . White‐spotted buffalo bulls are sacrificed in funeral ceremonies in Tana Toraja, Indonesia, because they are considered holy, and our results show that genetic variation causes a tie to the cultural use of these buffaloes.

Microphthalmia‐associated transcription factor mutations are associated with white‐spotted coat color in swamp buffalo