Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds

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  • Miriam Hauser
  • Heidi Signer-Hasler
  • Luzia Küttel
  • Aurélien Capitan
  • Guldbrandtsen, Bernt
  • Dirk Hinrichs
  • Christine Flury
  • Franz R. Seefried
  • Cord Drögemüller

Sequence variations in the melanocortin-1 receptor (MC1R) gene are associated with melanism in different animal species. Six functionally relevant alleles have been described in cattle to date. In a hypothesis-free approach we performed a genome-wide allelic association study with black, red and wild-coloured cattle of three Alpine cattle breeds (Eringer, Evolèner and Valdostana), revealing a single significant association signal close to the MC1R gene. We searched for candidate causative variants by sequencing the entire coding sequence and identified two novel protein-changing variants. We propose designating the mutant alleles at MC1R:c.424C>T as ev1 and at MC1R:c.263G>A as ev2. Both affect conserved amino acid residues in functionally important transmembrane domains (p.Arg142Cys and p.Ser88Asn). Both alleles segregate predominantly in the Swiss Evolèner breed. They occur in other European cattle breeds such as Abondance and Rotes Höhenvieh as well. We observed almost perfect association between the MC1R genotypes and the coat colour phenotype in a cohort of 513 black, red and wild-coloured cattle. Animals carrying two copies of MC1R loss-of-function alleles or that were compound heterozygous for e, ev1, or ev2 have a red to dark red (chestnut-like red) coat colour. These findings expand the spectrum of causal MC1R variants causing recessive red in cattle.

Original languageEnglish
JournalAnimal Genetics
Volume53
Issue number3
Pages (from-to)427-435
Number of pages9
ISSN0268-9146
DOIs
Publication statusPublished - 2022

Bibliographical note

Publisher Copyright:
© 2022 Stichting International Foundation for Animal Genetics.

    Research areas

  • Bos taurus, coat colour, ev1, ev2, heterogeneity, melanism, melanocortin-1 receptor, pigmentation

ID: 308120208