OMIA 001684-9685 : Curly/woolly coat, Cornish Rex and German Rex in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 609239 (gene) , 278150 (trait)

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, German Rex.

Associated gene:

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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 German Rex 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)

References


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.

Edit History


  • Created by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 19 Jan 2012
  • Changed by Frank Nicholas on 15 Aug 2012
  • Changed by Frank Nicholas on 22 Jul 2013
  • Changed by Imke Tammen2 on 16 Jun 2021
  • Changed by Imke Tammen2 on 03 Feb 2022