TY - JOUR

T1 - Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds

AU - Hauser, Miriam

AU - Signer-Hasler, Heidi

AU - Küttel, Luzia

AU - Capitan, Aurélien

AU - Guldbrandtsen, Bernt

AU - Hinrichs, Dirk

AU - Flury, Christine

AU - Seefried, Franz R.

AU - Drögemüller, Cord

N1 - Publisher Copyright: © 2022 Stichting International Foundation for Animal Genetics.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

KW - Bos taurus

KW - coat colour

KW - ev1

KW - ev2

KW - heterogeneity

KW - melanism

KW - melanocortin-1 receptor

KW - pigmentation

U2 - 10.1111/age.13206

DO - 10.1111/age.13206

M3 - Journal article

C2 - 35451516

AN - SCOPUS:85128546747

VL - 53

SP - 427

EP - 435

JO - Animal Genetics

JF - Animal Genetics

SN - 0268-9146

IS - 3

ER -