OMIA:001712-9685 : Curly coat, Selkirk rex in Felis catus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615895 (trait) , 608245 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal incomplete dominant
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2013
Species-specific name: Selkirk autosomal dominant Rex
Species-specific symbol: SADRE
History: The Selkirk Rex is a relatively new breed of curly-coated cat that is based on a spontaneous mutation that was discovered in the USA in 1987 (Filler et al., 2012).
Inheritance: Filler et al. (2012) provided a genetic analysis of the Selkirk Rex breed, reporting "incomplete dominant expression of the curly trait in the Selkirk Rex" and noting that "Homozygous curl cats can be distinguished from heterozygous cats by head and body type, as well as the presentation of the hair curl."
Mapping: By conducting a GWAS on 9 curly-coated Selkirk Rex and 29 control cats (comprising 6 Selkirk Rex straight-haired, 5 Persians, and 18 Scottish Folds), each genotyped with the Illumina Infinium Feline 63 K iSelect SNP chip (yielding 52,553 informative SNPs), Gandolfi et al. (2013) mapped the curly-coat trait to a 716kb region on cat chromosome B4, namely from 81,264,280 to 81,980,475. A ~600kb haplotype within this region was shown (from the feline-human comparative map) to contain 26 (candidate) keratin genes.
Molecular basis: By sequencing some of the comparative positional candidate keratin genes described in the Mapping section, Gandolfi et al. (2013) identified the causal mutation as a c.445-1G>C SNP which "likely disrupts the highly conserved acceptor splicing site of intron one." They also reported that "Sequence of the complete RNA transcript revealed that an alternative downstream acceptor was employed. The new alternative acceptor site was found within the first 18 bp of exon 2 (r.445_464del), thus an alternative splice site was recognized at base 18 in the modified exon 2. In silico translation predicted the loss of 6 amino acids in the KRT71 protein."
Breed: Selkirk Rex (Cat) (VBO_0100215).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT71||keratin 71, type II||Felis catus||B4||NC_058374.1 (78946430..78936910)||KRT71||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|
|394||Curly coat, Selkirk rex||KRT71||splicing||Naturally occurring variant||Felis_catus_9.0||B4||g.81050264C>G||c.445-1G>C||NM_001195239.1||2013||23770706||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
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., Joslin, S.E., Khan, R., Filler, S., Brem, G., Lyons, L.A. :|
|A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats. Sci Rep 3:2000, 2013. Pubmed reference: 23770706 . DOI: 10.1038/srep02000.|
|2012||Filler, S., Alhaddad, H., Gandolfi, B., Kurushima, J.D., Cortes, A., Veit, C., Lyons, L.A., Brem, G. :|
|Selkirk Rex: morphological and genetic characterization of a new cat breed. J Hered 103:727-33, 2012. Pubmed reference: 22837475 . DOI: 10.1093/jhered/ess039.|
- Changed by Frank Nicholas on 17 Aug 2012
- Created by Frank Nicholas on 17 Aug 2012
- Changed by Frank Nicholas on 20 Jun 2013