A missense mutation in melanocortin 1 receptor is associated with the red coat colour in donkeys. (25th August 2014)

• Record Type: Journal Article
• Authors: Abitbol, M.; Legrand, R.; Tiret, L.
• Is Part Of: Animal genetics. Volume 45:Number 6(2014:Dec.)
• Page Start: 878
• Page End: 880
• Publication Date: 2014-08-25
• Subjects: Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12207
• Languages: English
• ISSNs: 0268-9146

Abstract

<abstract abstract-type="main" id="age12207-abs-0001"> <title>Summary</title> <p>The seven donkey breeds recognised by the French studbook are characterised by few coat colours: black, bay and grey. Normand bay donkeys seldom give birth to red foals, a colour more commonly seen and recognised in American miniature donkeys. Red resembles the equine chestnut colour, previously attributed to a mutation in the <italic>melanocortin 1 receptor</italic> gene (<italic>MC1R</italic>). We used a panel of 124 donkeys to identify a recessive missense c.629T&gt;C variant in <italic>MC1R</italic> that showed a perfect association with the red coat colour. This variant leads to a methionine to threonine substitution at position 210 in the protein. We showed that methionine 210 is highly conserved among vertebrate melanocortin receptors. Previous <italic>in silico</italic> and <italic>in vitro</italic> analyses predicted this residue to lie within a functional site. Our <italic>in vivo</italic> results emphasised the pivotal role played by this residue, the alteration of which yielded a phenotype fully compatible with a loss of function of MC1R. We thus propose to name the c.629T&gt;C allele in donkeys the <italic>e</italic> allele, which further enlarges the panel of recessive <italic>MC1R</italic> loss‐of‐function alleles described in animals and humans.</p> </abstract>