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.

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed

“…Curly and wired hair are common traits across dog breeds, and the responsible mutations were identified within two genes, KRT71 and RSPO2, respectively [6]. In rabbits, a deletion in exon 9 within LIPH is responsible for the rex hair phenotype [5].…”

Identification of the Causative Gene for Simmental Arachnomelia Syndrome Using a Network-Based Disease Gene Prioritization Approach

“…Next, traditional fine mapping is used to narrow the region to a small interval and then each of a handful of genes is assessed for their potential functional relevance to the disease and screened for causative mutations [12], [13]. However, this procedure is laborious as well as time-consuming, requiring a large number of individuals with pedigree information to ensure the power and reliability of the results [14], [15].…”

Rare phenotypes in domestic animals: unique resources for multiple applications

“…These phenotypes were initially identified and bred for by fancy breeders in the beginning of the 20th century, well before commercial strains were developed in the 1990s to replace pelts from wild animals (Diribarne et al . ). Finally, some rare phenotypes may also have been maintained or fixed in some breeds for other specific uses (e.g.…”