title: A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus).
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.
authors.affiliation: INRA, UMR1313, Unité de Génétique Animale et Biologie Intégrative, INRA, Jouy-en-Josas, France.
authors.forename: Mathieu
authors.initials: M
authors.lastname: Diribarne
authors.forename: Xavier
authors.initials: X
authors.lastname: Mata
authors.forename: Céline
authors.initials: C
authors.lastname: Chantry-Darmon
authors.forename: Anne
authors.initials: A
authors.lastname: Vaiman
authors.forename: Gérard
authors.initials: G
authors.lastname: Auvinet
authors.forename: Stéphan
authors.initials: S
authors.lastname: Bouet
authors.forename: Séverine
authors.initials: S
authors.lastname: Deretz
authors.forename: Edmond-Paul
authors.initials: EP
authors.lastname: Cribiu
authors.forename: Hubert
authors.initials: H
authors.lastname: de Rochambeau
authors.forename: Daniel
authors.initials: D
authors.lastname: Allain
authors.forename: Gérard
authors.initials: G
authors.lastname: Guérin
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D015971:Gene Expression Regulation, Enzymologic; D006197:Hair / Q000033:anatomy & histology* / Q000201:enzymology; D008049:Lipase / Q000235:genetics*; D010641:Phenotype; D011817:Rabbits / Q000033:anatomy & histology* / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D008049:Lipase