GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001353
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Goat ; Murciano-Granadina ; red
Trait State in Taxon B
Goat ; Murciano-Granadina and Maltese ; black
Ancestral State
Taxon A
Taxonomic Status
Taxon A
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Goat ; Murciano-Granadina ; red
Taxon B
Latin Name
Common Name
goat
Synonyms
Capra aegagrus hircus; goat; domestic goat; goats; Carpa hircus; South African angora goat
Rank
species
Lineage
Show more ... eostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Cetartiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Capra
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Goat ; Murciano-Granadina and Maltese ; black
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.801C>G p.Cys267Trp
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Fontanesi L; Beretti F; Riggio V; Dall'Olio S; González EG; Finocchiaro R; Davoli R; Russo V; et al. ... show more
Abstract
Agouti and Extension loci control the relative amount of eumelanin and pheomelanin production in melanocytes that, in turn, affects pigmentation of skin and hair. The Extension locus encodes the melanocortin 1 receptor (MC1R) whose permanent activation, caused by functional mutations, results in black coat colour, whereas other inactivating mutations cause red coat colour in different mammals.

The whole coding region of the MC1R gene was sequenced in goats of six different breeds showing different coat colours (Girgentana, white cream with usually small red spots in the face; Maltese, white with black cheeks and ears; Derivata di Siria, solid red; Murciano-Granadina, solid black or solid brown; Camosciata delle Alpi, brown with black stripes; Saanen, white; F1 goats and the parental animals). Five single nucleotide polymorphisms (SNPs) were identified: one nonsense mutation (p.Q225X), three missense mutations (p.A81V, p.F250V, and p.C267W), and one silent mutation. The stop codon at position 225 should cause the production of a shorter MC1R protein whose functionality may be altered. These SNPs were investigated in a larger sample of animals belonging to the six breeds. The Girgentana breed was almost fixed for the p.225X allele. However, there was not complete association between the presence of red spots in the face and the presence of this allele in homozygous condition. The same allele was identified in the Derivata di Siria breed. However, its frequency was only 33%, despite the fact that these animals are completely red. The p.267W allele was present in all Murciano-Granadina black goats, whereas it was never identified in the brown ones. Moreover, the same substitution was present in almost all Maltese goats providing evidence of association between this mutation and black coat colour.

According to the results obtained in the investigated goat breeds, MC1R mutations may determine eumelanic and pheomelanic phenotypes. However, they are probably not the only factors. In particular, the surprising not complete association of the nonsense mutation (p.Q225X) with red coat colour raises a few hypotheses on the determination of pheomelanic phenotypes in goats that should be further investigated.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
COMMENTS
mutation is dominant
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