Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds

DIPROVAL, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Italy.
Animal Genetics (Impact Factor: 2.21). 06/2012; 43(3):250-6. DOI: 10.1111/j.1365-2052.2011.02242.x
Source: PubMed


Candidate gene analysis, quantitative trait locus mapping in outbreed and experimental cross-populations and a genomewide association study in Holstein have reported that a few chromosome regions contribute to great variability in the degree of white/black spotting in cattle. In particular, an important region affecting this trait was localized on bovine chromosome 22 in the region containing the microphthalmia-associated transcription factor (MITF) gene. We sequenced a total of 7258 bp of the MITF gene in 40 cattle of different breeds, including 20 animals from spotted breeds (10 Italian Holstein and 10 Italian Simmental) and 20 animals from solid coloured breeds (10 Italian Brown and 10 Reggiana), and identified 17 single nucleotide polymorphisms (SNPs). The allele frequencies of one polymorphism (g.32386957A>T) were clearly different between spotted (A = 0.875; T = 0.125) and non-spotted breeds (A = 0.125; T = 0.875) (P = 8.2E-12). This result was confirmed by genotyping additional animals of these four breeds (P < 1.0E-20). A total of 21 different haplotypes were inferred from the sequenced animals. Considering similarities among haplotypes, spotted and non-spotted groups of cattle showed significant differences in their haplotype distribution (P = 0.001), which was further supported by the analysis of molecular variance (amova) of two genotyped SNPs in an enlarged sample of cattle. Variability in the MITF gene clearly explained the differences between spotted and non-spotted phenotypes but, at the same time, it is evident that this gene is not the only genetic factor determining piebaldism in Italian Holstein and Italian Simmental cattle breeds.

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Available from: Emilio Scotti, Dec 11, 2014
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    • "Besides this, 2 non–synonymous substitutions (Thr137Ala and Arg217Cys) were found in Korean native ducks. Several reports concerning the association of the MITF gene with color in avian and mammalian species have been reported (Fontanesi et al., 2012; Li et al., 2011; Hayes et al., 2010; Karlsson et al., 2007). A causal mutation of the MITF gene has been shown to have a substantial effect on the ''silver'' plumage color in Japanese quail (Minvielle et al., 2010). "
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    • "is in complete LD with the QTL as illustrated in Fig. 1. (A haplotype refers to the combination of alleles observed on a chromosome at neighboring polymorphisms.) Use of haplotypes has been analyzed in the field of genome wide association study, recently [4] [5] [6]. "
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