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Microphthalmia-associated transcription factor mutations are associated with white-spotted coat color in swamp buffalo
Bogor Agr Univ IPB, Grad Sch, Bogor 16680, Indonesia.;Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, SE-75007 Uppsala, Sweden.;Indonesian Inst Sci LIPI, Biotechnol Res Ctr, Cibinong 16912, Indonesia..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, SE-75007 Uppsala, Sweden..
Swedish Univ Agr Sci SLU, Dept Anim Breeding & Genet, SE-75007 Uppsala, Sweden..
Bogor Agr Univ IPB, Fac Anim Sci, Dept Anim Prod & Technol, Bogor 16680, Indonesia..
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2015 (English)In: Animal Genetics, ISSN 0268-9146, E-ISSN 1365-2052, Vol. 46, no 6, 676-682 p.Article in journal (Refereed) PublishedText
Abstract [en]

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 buffaloes32 solid, 38 spotted and 23 white individualswere Sanger-sequenced for all MITF exons as well as highly conserved intronic and flanking regions. MITFcDNA 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 invitro 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.

Place, publisher, year, edition, pages
2015. Vol. 46, no 6, 676-682 p.
Keyword [en]
Bubalus bubalis, donor splice-site mutation, MITF, nonsense mutation
National Category
Animal and Dairy Science Genetics and Breeding
URN: urn:nbn:se:uu:diva-268758DOI: 10.1111/age.12334ISI: 000364704300010OAI: oai:DiVA.org:uu-268758DiVA: diva2:882514
Available from: 2015-12-15 Created: 2015-12-09 Last updated: 2015-12-15Bibliographically approved

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Wilbe, MariaAndersson, Leif
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Medicinsk genetik och genomikDepartment of Medical Biochemistry and Microbiology
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