Hauser, Miriam; Signer-Hasler, Heidi; Küttel, Luzia; Capitan, Aurélien; Guldbrandtsen, Bernt; Hinrichs, Dirk; Flury, Christine; Seefried, Franz; Drögemüller, Cord (2022). Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds Animal Genetics, 53(3), pp. 427-435. Wiley 10.1111/age.13206
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Animal Genetics - 2022 - Hauser - Identification of two new recessive MC1R alleles in red‐coloured Evol ner cattle and.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (4MB) | Preview |
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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
School of Agricultural, Forest and Food Sciences HAFL School of Agricultural, Forest and Food Sciences HAFL > Agriculture School of Agricultural, Forest and Food Sciences HAFL > Agriculture > Livestock and Horses |
Name: |
Hauser, Miriam; Signer-Hasler, Heidi  0000-0001-5193-5306; Küttel, Luzia; Capitan, Aurélien; Guldbrandtsen, Bernt; Hinrichs, Dirk; Flury, Christine; Seefried, Franz and Drögemüller, Cord |
Subjects: |
Q Science > QH Natural history > QH426 Genetics S Agriculture > SF Animal culture |
ISSN: |
02689146 |
Publisher: |
Wiley |
Submitter: |
Heidi Signer-Hasler |
Date Deposited: |
01 Jun 2022 11:17 |
Last Modified: |
05 Jun 2022 01:35 |
Publisher DOI: |
10.1111/age.13206 |
Uncontrolled Keywords: |
Bos taurus, coat colour, ev1, ev2, heterogeneity, melanism, melanocortin-1 receptor, pigmentation |
ARBOR DOI: |
10.24451/arbor.17010 |
URI: |
https://arbor.bfh.ch/id/eprint/17010 |
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