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

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."

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_018723.3 (22918151..22920463) 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Curly/woolly coat, Cornish Rex and German Rex LPAR6 deletion, small (<=20) c.250_253_delTTTG 2013 23826204

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.
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