Evidence map›Paper›PMID 25927731›Full record

ArticleGenetics, selection, evolution : GSE2014

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

Romain Legrand, Laurent Tiret, Marie Abitbol

Open access · goldAbstract read
In one paragraph

Article in Genetics, selection, evolution : GSE, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
1.3field-weighted citation impact, top 20% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

30 citing papers in PubMed, 49 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 2 countries.

Romain LegrandUMR955 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.
Laurent TiretUMR955 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.
Marie AbitbolUMR955 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.
École Nationale Vétérinaire d'Alfort · FRInstitut National de la Recherche Agronomique · MA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSeven 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.

methodsWe 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.

resultsWe 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.

conclusionsOur 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.

Indexed as

MutationAllelesAnimalsEquidaeFibroblast Growth Factor 5Frameshift MutationGenes, RecessiveHairHorsesMolecular Sequence DataPolymorphism, GeneticFibroblast Growth Factor 5

Identifiers

PMID25927731
PMCPMC4175617
OpenAlexW2124697955

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.