Gérard Auvinet

French National Institute for Agricultural Research, Lutetia Parisorum, Île-de-France, France

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Publications (6)7.07 Total impact

  • D. Allain, G. Auvinet, S. Deretz
    65th EAAP Annual meeting, Copenhague; 01/2014
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    ABSTRACT: Natural mutations in the LIPH gene were shown to be responsible for hair growth defects in humans and for the rex short hair phenotype in rabbits. In this species, we identified a single nucleotide deletion in LIPH (1362delA) introducing a stop codon in the C-terminal region of the protein. We investigated the expression of LIPH between normal coat and rex rabbits during critical fetal stages of hair follicle genesis, in adults and during hair follicle cycles. Transcripts were three times less expressed in both fetal and adult stages of the rex rabbits than in normal rabbits. In addition, the hair growth cycle phases affected the regulation of the transcription level in the normal and mutant phenotypes differently. LIPH mRNA and protein levels were higher in the outer root sheath (ORS) than in the inner root sheath (IRS), with a very weak signal in the IRS of rex rabbits. In vitro transfection shows that the mutant protein has a reduced lipase activity compared to the wild type form. Our results contribute to the characterization of the LIPH mode of action and confirm the crucial role of LIPH in hair production.
    PLoS ONE 01/2012; 7(1):e30073. DOI:10.1371/journal.pone.0030073 · 3.53 Impact Factor
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    ABSTRACT: The fur of common rabbits is constituted of 3 types of hair differing in length and diameter while that of rex animals is essentially made up of amazingly soft down-hair. Rex short hair coat phenotypes in rabbits were shown to be controlled by three distinct loci. We focused on the "r1" mutation which segregates at a simple autosomal-recessive locus in our rabbit strains. A positional candidate gene approach was used to identify the rex gene and the corresponding mutation. The gene was primo-localized within a 40 cM region on rabbit chromosome 14 by genome scanning families of 187 rabbits in an experimental mating scheme. Then, fine mapping refined the region to 0.5 cM (Z = 78) by genotyping an additional 359 offspring for 94 microsatellites present or newly generated within the first defined interval. Comparative mapping pointed out a candidate gene in this 700 kb region, namely LIPH (Lipase Member H). In humans, several mutations in this major gene cause alopecia, hair loss phenotypes. The rabbit gene structure was established and a deletion of a single nucleotide was found in LIPH exon 9 of rex rabbits (1362delA). This mutation results in a frameshift and introduces a premature stop codon potentially shortening the protein by 19 amino acids. The association between this deletion and the rex phenotype was complete, as determined by its presence in our rabbit families and among a panel of 60 rex and its absence in all 60 non-rex rabbits. This strongly suggests that this deletion, in a homozygous state, is responsible for the rex phenotype in rabbits.
    PLoS ONE 04/2011; 6(4):e19281. DOI:10.1371/journal.pone.0019281 · 3.53 Impact Factor
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  • 13èmes Journée de la recherche Cunicole, Le Mans; 01/2009
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    ABSTRACT: Most rabbits have three different types of hair in their coats. The longest type forms the outer fur called “guard hair”, a middle layer is named “awn hair” and the shortest “down hair”, also know as undercoat with very thin shafts. The “rex” trait refers to rabbits having essentially down hair amazingly soft to touching. Appeared in a private breeding stock, the trait was then selected at Inra to further reduce the number of guard and awn hair. Genetic analysis reveals an autosomal recessive major gene. In rex animals, degenerated primary hair follicles are unable to synthesize the guard and awn hair. Experimental Inra families with segregating hair phenotype were selected and blood samples were collected for three generations. The rex trait was previously located on chromosome 14 by genome scanning (8 families, 187 offspring, 118 microsatellites). In a first attempt to fine mapping the trait, primers were designed to amplify 94 microsatellites within the first 40cM primo-localisation interval. The most polymorphic and evenly distributed markers were used to reduce this interval to 3 cM, further narrowed to 0.5 cM by pheno and genotyping additional informative offspring. Comparative mapping of this short chromosomal region was applied to select candidate genes that could be responsible for the rex trait. Mutations in these genes are being investigated to identify the causal mutation of the major gene controlling this trait. In addition to its economic interest, this trait represents a good model to study hair growth genetic pathways.
    Plant & Animal Genomes XVII Conference, January 10-14, 2009, Town & Country Convention Center San Diego, CA; 01/2009
  • 9ème Journées de la Recherche Cunicole, Paris; 01/2001