OMIA:001684-9685 : Curly/woolly coat, LPAR6-related in Felis catus (domestic cat) |
Categories: Integument (skin) phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609239 (gene) , 278150 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: no
Key variant known: yes
Year key variant first reported: 2013
Cross-species summary: Renamed from 'Curly/woolly coat, Cornish Rex and German Rex' [05/04/2024]
Species-specific symbol: r
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).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 522 | Cornish Rex (Cat) German Rex (Cat) | Curly/woolly coat, Cornish Rex and German Rex | LPAR6 | r | 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) |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001684-9685: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2024 | Zorc, M., Horvat, T., Tanšek, A., Ferme, T., Dovč, P. : |
| Selection signatures reveal candidate genes for the Cornish Rex breed-specific phenotype. Genes (Basel) 15:368, 2024. Pubmed reference: 38540427. DOI: 10.3390/genes15030368. | |
| 2022 | Anderson, H., Davison, S., Lytle, K.M., Honkanen, L., Freyer, J., Mathlin, J., Kyöstilä, K., Inman, L., Louviere, A., Chodroff Foran, R., Forman, O.P., Lohi, H., Donner, J. : |
| Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats. PLoS Genet 18:e1009804, 2022. Pubmed reference: 35709088. DOI: 10.1371/journal.pgen.1009804. | |
| 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
- Changed by Imke Tammen2 on 10 Nov 2023
- Changed by Imke Tammen2 on 21 Jun 2024