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Mutation in the melanocortin 1 receptor is associated with amber colour in the Norwegian Forest Cat

Authors

  • M. Peterschmitt,

    1. Université de Lyon, École Nationale Vétérinaire de Lyon, Unité Génétique & Biologie Moléculaire et Laboratoire Vétérinaire Départemental du Rhône, F-69280 Marcy l’Etoile, France.
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  • F. Grain,

    1. Université de Lyon, École Nationale Vétérinaire de Lyon, Unité Génétique & Biologie Moléculaire et Laboratoire Vétérinaire Départemental du Rhône, F-69280 Marcy l’Etoile, France.
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  • B. Arnaud,

    1. Université de Lyon, École Nationale Vétérinaire de Lyon, Unité Génétique & Biologie Moléculaire et Laboratoire Vétérinaire Départemental du Rhône, F-69280 Marcy l’Etoile, France.
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  • G Deléage,

    1. Université de Lyon, Institut de Biologie et Chimie des Protéines UMR 5086, CNRS, Université Lyon1, F-69007 Lyon, France
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  • V. Lambert

    1. Université de Lyon, École Nationale Vétérinaire de Lyon, Unité Génétique & Biologie Moléculaire et Laboratoire Vétérinaire Départemental du Rhône, F-69280 Marcy l’Etoile, France.
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V. Lambert, Unité Génétique et Biologie moléculaire, Ecole Nationale Vétérinairede Lyon, 1 avenue Bourgelat, F-69280 Marcy l’Etoile, France.
E-mail: v.lambert@vet-lyon.fr

Summary

Amber (previously called X-Colour) is a yellow recessive coat colour observed in the Norwegian Forest Cat (NFC) population and apparently absent in other cat breeds. Until now, there has never been any scientific evidence of yellow recessive mutation (e) reported in the extension gene in Felidae. We sequenced the complete coding sequence region for the melanocortin 1 receptor in 12 amber, three carriers, two wild-type NFCs, one wild-type European Shorthair and two ‘golden’ Siberian cats and identified two single nucleotide polymorphisms (SNPs): a non-synonymous (FM180571: c.250G>A) and a synonymous (FM180571: c.840T>C) mutation. The c.250G>A SNP, further genotyped on 56 cats using PCR-RFLP, is associated with amber colour and only present in the amber cat lineages. It replaced an aspartic acid with a neutral polar asparagine in the second transmembrane helix (p.Asp84Asn), a position where e mutations have already been described. Three-dimensional models were built and showed electrostatic potential modification in the mutant receptor. With these results and together with those in the scientific literature, we can conclude that amber colour in NFCs is caused by a single MC1R allele called e, which has never been documented.

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