Genetic heterogeneity at the bovine KIT gene in cattle breeds carrying different putative alleles at the spotting locus

L. Fontanesi, M. Tazzoli, V. Russo, Jonathan Edward Beever

Research output: Contribution to journalArticlepeer-review


According to classical genetic studies, piebaldism in cattle is largely influenced by the allelic series at the spotting locus (S), which includes the SH (Hereford pattern), S+ (non-spotted) and s (spotted) alleles. The S locus was mapped on bovine chromosome 6 in the region containing the KIT gene. We investigated the KIT gene, analysing its variability and haplotype distribution in cattle of three breeds (Angus, Hereford and Holstein) with different putative alleles (S+, SH and s respectively) at the S locus. Resequencing of a whole of 0.485 Mb revealed 111 polymorphisms. The global nucleotide diversity was 0.087%. Tajima's D-values were negative for all breeds, indicating putative directional selection. Of the 28 inferred haplotypes, only five were observed in the Hereford breed, in which one was the most frequent. Coalescent simulation showed that it is highly unlikely (P < 10E-6) to obtain this low number of haplotypes conditionally on the observed number of segregating SNPs. Therefore, the neutral model could be rejected for the Hereford breed, suggesting that a selection sweep occurred at the KIT locus. Twelve haplotypes were inferred in Holstein and Angus. For these two breeds, the neutral model could not be rejected. High heterogeneity of the KIT gene was confirmed from a phylogenetic analysis. Our results suggest a role of the KIT gene in determining the SH allele(s) in the Hereford, but no evidence of selective sweep was obtained in Holstein, suggesting that complex mechanisms (or other genes) might be the cause of the spotted phenotype in this breed.

Original languageEnglish (US)
Pages (from-to)295-303
Number of pages9
JournalAnimal genetics
Issue number3
StatePublished - Jun 1 2010


  • Cattle
  • Coat colour
  • Haplotypes
  • KIT
  • Polymorphisms
  • Spotting locus

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics


Dive into the research topics of 'Genetic heterogeneity at the bovine KIT gene in cattle breeds carrying different putative alleles at the spotting locus'. Together they form a unique fingerprint.

Cite this