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.

OriginalsprogEngelsk
TidsskriftAnimal Genetics
Vol/bind53
Udgave nummer3
Sider (fra-til)427-435
Antal sider9
ISSN0268-9146
DOI
StatusUdgivet - 2022

Bibliografisk note

Funding Information:
Open access funding provided by University of Bern. The authors would like to thank the owners of the cattle for providing the genetic material and the photos. Thanks to the Evol?ner?Zuchtverein, namely Adrienne Stettler and Hansueli von Steiger, as well as Pro Specie Rara for excellent support of this project. We acknowledge Swissgenetics (Switzerland) and ANABoRaVa (Italy) for providing semen samples. Nathalie Besuchet-Schmutz and S?bastien Fritz (Allice) are thanked for their expert technical support. We would like to thank the 1000 Bull Genomes project for providing access to the variant catalogue.

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

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