GEPHE SUMMARY
Gephebase Gene
Entry Status
Published
GepheID
GP00001351
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Donkey ; wild type not red
Trait State in Taxon B
Donkey ; Red Normand and Red miniature ; red coat
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
ass
Synonyms
ass; African ass; African wild ass; Somali wild ass; domestic ass; donkey
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Asinus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
ass
Synonyms
ass; African ass; African wild ass; Somali wild ass; domestic ass; donkey
Rank
species
Lineage
Show more ... ata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Asinus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Donkey ; Red Normand and Red miniature ; red coat
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.629T>C p.Met210Thr
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Abitbol M; Legrand R; Tiret L
Abstract
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 melanocortin 1 receptor gene (MC1R). We used a panel of 124 donkeys to identify a recessive missense c.629T>C variant in MC1R 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 in silico and in vitro analyses predicted this residue to lie within a functional site. Our in vivo 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>C allele in donkeys the e allele, which further enlarges the panel of recessive MC1R loss-of-function alleles described in animals and humans.

© 2014 Stichting International Foundation for Animal Genetics.
Additional References
RELATED GEPHE
COMMENTS
recessive mutation ; evidence of loss of function
YOUR FEEDBACK is welcome!