GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00001369
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait
Trait State in Taxon A
donkey ; short coat (in Berry Black and Pyrenean and Provence and Normand and Cotentin and Bourbonnais)
Trait State in Taxon B
Baudet du Poitou ; long 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?
Yes
Taxon A Description
donkey ; short coat (in Berry Black and Pyrenean and Provence and Normand and Cotentin and Bourbonnais)
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
Baudet du Poitou ; long coat
GENOTYPIC CHANGE
Presumptive Null
Yes
Molecular Type
Aberration Type
Deletion Size
1-9 bp
Molecular Details of the Mutation
c.433_434delAT frameshift deletion leading to a stop codon at position 159
Experimental Evidence
Authors
Legrand R; Tiret L; Abitbol M
Abstract
Seven donkey breeds are recognized by the French studbook. Individuals from the Pyrenean, Provence, Berry Black, Normand, Cotentin and Bourbonnais breeds are characterized by a short coat, while those from the Poitou breed (Baudet du Poitou) are characterized by a long-hair phenotype. We hypothesized that loss-of-function mutations in the FGF5 (fibroblast growth factor 5) gene, which are associated with a long-hair phenotype in several mammalian species, may account for the special coat feature of Poitou donkeys. To the best of our knowledge, mutations in FGF5 have never been described in Equidae.

We sequenced the FGF5 gene from 35 long-haired Poitou donkeys, as well as from a panel of 67 short-haired donkeys from the six other French breeds and 131 short-haired ponies and horses.

We identified a recessive c.433_434delAT frameshift deletion in FGF5, present in Poitou and three other donkey breeds and a recessive nonsense c.245G > A substitution, present in Poitou and four other donkey breeds. The frameshift deletion was associated with the long-hair phenotype in Poitou donkeys when present in two copies (n = 31) or combined with the nonsense mutation (n = 4). The frameshift deletion led to a stop codon at position 159 whereas the nonsense mutation led to a stop codon at position 82 in the FGF5 protein. In silico, the two truncated FGF5 proteins were predicted to lack the critical β strands involved in the interaction between FGF5 and its receptor, a mandatory step to inhibit hair growth.

Our results highlight the allelic heterogeneity of the long-hair phenotype in donkeys and enlarge the panel of recessive FGF5 loss-of-function alleles described in mammals. Thanks to the DNA test developed in this study, breeders of non-Poitou breeds will have the opportunity to identify long-hair carriers in their breeding stocks.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
1
EXTERNAL LINKS
COMMENTS
Recessive ; protein is predicted to lack the critical beta strands involved in the interaction with its receptor
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