GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00002328
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
WT
Trait State in Taxon B
white-spotted
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Common Name
water buffalo
Synonyms
Bubalus arnee; Bubalus arnee bubalis; water buffalo; domestic water buffalo; river buffalo; Bubalis arnee bubalis; Bubalis bubalis; Bubalus bubalus
Rank
species
Lineage
Show more ... eleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bubalus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Common Name
water buffalo
Synonyms
Bubalus arnee; Bubalus arnee bubalis; water buffalo; domestic water buffalo; river buffalo; Bubalis arnee bubalis; Bubalis bubalis; Bubalus bubalus
Rank
species
Lineage
Show more ... eleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bubalus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Mitf
Synonyms
Wh; bw; mi; vit; BCC2; Bhlhe32; Gsfbcc2; Vitiligo; Bw; Mi; Vit
Sequence Similarities
Belongs to the MiT/TFE family.
UniProtKB
Mus musculus
GenebankID or UniProtKB
Presumptive Null
Yes
Molecular Type
Aberration Type
SNP
SNP Coding Change
-
Molecular Details of the Mutation
donor splice-site mutation leads to aberrant splicing of exon 8 that encodes part of a highly conserved region of MITF
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Yusnizar Y; Wilbe M; Herlino AO; Sumantri C; Noor RR; Boediono A; Andersson L; Andersson G
Abstract
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.

© 2015 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
Related Genes
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
@Parallelism @AllelicSeries @HeterozygoteAdvantage @Splicing https://omia.org/OMIA000214/89462/
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