ArticlePloS one2011
A deletion in exon 9 of the LIPH gene is responsible for the rex hair coat phenotype in rabbits (Oryctolagus cuniculus).
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 35 citations in OpenAlex.
- Whole-transcriptome analysis reveals the profiles and roles of coding and non-coding RNAs during hair follicle cycling in Rex rabbits.BMC genomics · 2025Article
- Selection against domestication alleles in introduced rabbit populations.Nature ecology & evolution · 2024Article
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- Selection Signatures Reveal Candidate Genes for the Cornish Rex Breed-Specific Phenotype.Genes · 2024Article
- Article
- A genome-wide association study of coat color in Chinese Rex rabbits.Frontiers in veterinary science · 2023Article
- Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs.Frontiers in genetics · 2023Article
- Lysophospholipid Mediators in Health and Disease.Annual review of pathology · 2022Review
- Genomic diversity and signatures of selection in meat and fancy rabbit breeds based on high-density marker data.Genetics, selection, evolution : GSE · 2022Article
- International Harmonization of Nomenclature and Diagnostic Criteria (INHAND): Nonproliferative and Proliferative Lesions of the Rabbit.Journal of toxicologic pathology · 2021Review
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza.Scientific reports · 2020Article
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.Scientific reports · 2018Article
- A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.Genetics, selection, evolution : GSE · 2017Article
- Adaptive potential of genomic structural variation in human and mammalian evolution.Briefings in functional genomics · 2015Review
- Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Article
- Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach.PloS one · 2013Article
- To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.PloS one · 2013Article
- Article
- Selkirk Rex: morphological and genetic characterization of a new cat breed.The Journal of heredityArticle
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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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.