OMIA:001684-9685 : Curly/woolly coat, Cornish Rex and German Rex in Felis catus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609239 (gene) , 278150 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2013
Molecular basis: Gandolphi et al. (2013) reported the first Genome-Wide Association Study (GWAS) in cats, which led them to the discovery of the causal mutation for for curly/woolly hair in the Cornish Rex breed: a "4 bp deletion in exon 5 of the LPAR6 [which encodes lysophosphatidic acid receptor 6], c.250_253_delTTTG, which induces a premature stop codon in the receptor . . . The mutation is fixed in Cornish Rex, absent in all straight haired cats analyzed, and is also segregating in the German Rex breed."
Rodney et al. (2021) reported a "variant in the lysophosphatidic acid receptor 6 (LPAR6) gene ... detected in a Peterbald cat, which is a hairless breed. ... The annotation predicts a c.249delG causing a p.Phe84Leufs*10 ... .This variant was heterozygous in the affected cat, unique to the exome data and not identified in the 99 Lives variant dataset." As Peterbald cats are hairless the impact of the variant on the phenotype is unknown.
Breeds: Cornish Rex (Cat) (VBO_0100077), German Rex (Cat) (VBO_0100107).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|LPAR6||lysophosphatidic acid receptor 6||Felis catus||A1||NC_058368.1 (22864240..22866264)||LPAR6||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|522||Cornish Rex (Cat) German Rex (Cat)||Curly/woolly coat, Cornish Rex and German Rex||LPAR6||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||A1||g.22919307_22919310del||c.250_253del||p.(F84Efs*9)||NM_001309049.1; NP_001295978.1; c.250_253delTTTG||2013||23826204||The genomic location on Felis_catus_9.0 and transcript information is based on Rodney et al. 2021 (PMID: 33785770)|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2021||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770 . DOI: 10.1038/s41598-021-86200-7.|
|2013||Gandolfi, B., Alhaddad, H., Affolter, V.K., Brockman, J., Haggstrom, J., Joslin, S.E., Koehne, A.L., Mullikin, J.C., Outerbridge, C.A., Warren, W.C., Lyons, L.A. :|
|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 8:e67105, 2013. Pubmed reference: 23826204 . DOI: 10.1371/journal.pone.0067105.|
|2012||Gandolfi, B., Lyons, L. :|
|Cornish Rex unraveled Plant & Animal Genome (PAG) XX :abstract W133, 2012.|
|1968||Robinson, R. :|
|German rex: a rexoid coat mutant in the cat. Genetica 39:351-2, 1968. Pubmed reference: 5713606 .|
|1956||Searle, A.G., Jude, A.C. :|
|The rex type of coat in the domestic cat Journal of Genetics 54:506-512, 1956.|
|1953||Jude, AC. :|
|A rex mutant in the cat. Nature 172:81-2, 1953. Pubmed reference: 13072584 .|
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- Created by Frank Nicholas on 19 Jan 2012
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