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Home / Equine Research Bank / Genet Sel Evol / Two recessive mutations in FGF5 are associated with the long...
Genetics, selection, evolution : GSE2014; 46(1); 65; doi: 10.1186/s12711-014-0065-5

Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys.

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. Methods: 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. Results: 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. Conclusions: 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.
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Publication Date: 2014-09-25 PubMed ID: 25927731PubMed Central: PMC4175617DOI: 10.1186/s12711-014-0065-5Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • Non-U.S. Gov't

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This research paper examines the genetic reasons behind the long hair phenotype in Poitou donkeys, attributing it to two recessive mutations in the FGF5 gene.

Background and Hypothesis

  • The research begins with the observation of seven donkey breeds recognized in France. Among these, Poitou donkeys are unique for their long hair compared to the short hair characteristic of the other breeds.
  • The researchers speculate that this could be due to mutations in the FGF5 gene, associated with long hair in many mammalian species. This hasn’t been observed previously in the Equidae family, to which donkeys belong.

Methods

  • The FGF5 gene from 35 long-haired Poitou donkeys, 67 short-haired donkeys from other French breeds, and 131 short-haired ponies and horses was sequenced to detect potential mutations.

Results

  • Two distinct mutations were identified: a frameshift deletion c.433_434delAT in FGF5, present in Poitou and three other donkey breeds, and a nonsense substitution c.245G > A, found in Poitou and four other donkey breeds.
  • The frameshift deletion was directly related to the long-hair phenotype in the Poitou breed when present in two copies or combined with the nonsense mutation.
  • The frameshift deletion led to a stop codon (a sequence in the gene instructing the end of protein formation) at position 159, while the nonsense mutation led to a stop codon at position 82 in the FGF5 protein.
  • In silico (computer simulation) predictions indicated that these mutations would result in truncated FGF5 proteins lacking the critical β strands necessary for interaction with its receptor, an indispensable step for inhibiting hair growth.

Conclusions

  • The study provides new understanding about the genetic diversity underlying the long-hair phenotype in donkeys, particularly expanding our knowledge about the different types of recessive FGF5 loss-of-function alleles in mammals.
  • The research also opened up opportunities for breeders to use the DNA tests developed in this study for identifying long-hair carriers in non-Poitou breeds, with potential impacts on selective breeding programs.

Cite This Article

APA
Legrand R, Tiret L, Abitbol M. (2014). Two recessive mutations in FGF5 are associated with the long-hair phenotype in donkeys. Genet Sel Evol, 46(1), 65. https://doi.org/10.1186/s12711-014-0065-5

Publication

Genetics, selection, evolution : GSE
ISSN: 1297-9686
NlmUniqueID: 9114088
Country: France
Language: English
Volume: 46
Issue: 1
Pages: 65
PII: 65

Researcher Affiliations

Legrand, Romain
  • UMR955 INRA-ENVA de Génétique Fonctionnelle et Médicale, Université Paris-Est, Institut National de la Recherche Agronomique, Ecole nationale vétérinaire d'Alfort, F-94700, Maisons-Alfort, France. romainlegrand.vet@gmail.com.
Tiret, Laurent
  • UMR955 INRA-ENVA de Génétique Fonctionnelle et Médicale, Université Paris-Est, Institut National de la Recherche Agronomique, Ecole nationale vétérinaire d'Alfort, F-94700, Maisons-Alfort, France. ltiret@vet-alfort.fr.
Abitbol, Marie
  • UMR955 INRA-ENVA de Génétique Fonctionnelle et Médicale, Université Paris-Est, Institut National de la Recherche Agronomique, Ecole nationale vétérinaire d'Alfort, F-94700, Maisons-Alfort, France. m.abitbol@vet-alfort.fr.

MeSH Terms

  • Alleles
  • Animals
  • Equidae / genetics
  • Fibroblast Growth Factor 5 / genetics
  • Frameshift Mutation
  • Genes, Recessive
  • Hair / physiology
  • Horses / genetics
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Genetic

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