OMIA:000439-9685 : Hair, long in Felis catus (domestic cat)
Categories: Integument (skin) phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2007
Cross-species summary: Long hair = angora
Species-specific symbol: l
Inheritance: Long hair is autosomal recessive, short hair is dominant.
Mapping: Kehler et al. (2007) mapped the "long-haired" phenotype to an estimated 10-Mb region on cat chromosome B1 containing the Fibroblast Growth Factor 5 (FGF5) gene, a candidate gene implicated in regulating hair follicle growth cycle in other species.
Molecular basis: Drögemüller et al. (2007) and Kehler et al (2007) proposed several likely causal variants as well as variants associated with long hair in cats and the findings are summarised by Sheffer et al. (2021): “Mutation 1 (M1), is an insertion of a thymine base (c.ins356T) originally found in the Ragdoll breed; Mutation 2 (M2), is a cytosine to thymine conversion (c.406C > T) originally found in the Norwegian Forest Cat breed; Mutation 3 (M3), is a deletion of a thymine base (c.del474T) originally found in Ragdoll and Maine Coon breeds; and Mutation 4 (M4), is an adenine to cytosine conversion (c.475A > C) found in most longhair cat breeds (Drögemüller et al 2007; Kehler et al 2007). All four variants can be found in a homozygous state or a compound heterozygous state involving multiple variants (Kehler et al 2007).
Two additional variants in FGF5 [c.194C>A, p.(P65H) and c.182T>A, p.(V61D); removed from likely causal variant table below on 20/10/2021] were identified by Drögemüller et al. (2007) as potentially causative for the longhair phenotype. However, Kehler et al. (2007) found multiple shorthaired cats homozygous for these two mutations and excluded these variants as causative. … Both groups found the M4 variant, but it is worth mentioning that Drögemüller et al. (2007) found a single shorthaired crossbred cat that was homozygous for M4. This cat was probably incorrectly phenotyped (Leeb, personal communication). In contrast, Kehler et al. (2007) found that M4 was the most common mutation among longhaired cats and was not found in a homozygous state in any shorthaired cats in their large study.”
Sheffer et al. (2021): “Sequencing of FGF5 in samples from two … Maine Coons that had only one of the four known FGF5 variants, with additional screening in 144 Maine Coon cats and confirmation in relatives, led to the identification of a fifth, novel variant, Mutation 5, (M5) associated with longhair in the Maine Coon.”
Have human generated variants been created, e.g. through genetic engineering and gene editing
Prevalence: Kehler et al. (2007) report FGF5 allele frequencies for variants M1-M4 among 116 cats from 26 registered breeds. Variants M1-M3 are reported each in a single breed (see variant table below). Variant M4 is reported across multiple long hair breeds (Angora, Balinese, Birman, Himalayan, Maine Coon, Norwegian Forest Cat, Persian, Ragdoll, Siberian, Somali, Turkish Angora, Turkish Van, Manx, Scottish Fold) and reported to be present in heterozygous state in some short-haired breeds (British Shorthair, Devon Rex). Variant M5 is reported as an additional variant in Main Coon cats by Sheffer et al. (2021).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF5||fibroblast growth factor 5||Felis catus||B1||NC_058371.1 (139655222..139633522)||FGF5||Homologene, Ensembl , NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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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|
|1368||Maine Coon (Cat)||Long hair||FGF5||l^MCC2 (M5)||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.142165850C>T||c.577G>A||p.(A193T)||NM_001114546.1; NP_001108018.1||2021||34599367|
|130||Long hair||FGF5||l (M4)||missense||Naturally occurring variant||Felis_catus_9.0||B1||g.142165952T>G||c.475A>C||p.(T159P)||NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.474del||2007||17433015||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|498||Maine Coon (Cat) Ragdoll (Cat)||Long hair||FGF5||l^MCC1 (M3)||deletion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.142165953del||c.474del||NM_001114546.1; NP_001108018.1; published as c.474delT; variant can be in a haplotype with c.475A>C resulting in two different predicted effects on the protein||2007||17433015||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
|311||Norwegian Forest Cat (Cat)||Long hair||FGF5||l^NFC (M2)||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B1||g.142177919G>A||c.406C>T||p.(R136*)||NM_001114546.1; NP_001108018.1||2007||17767004||The genomic location on Felis_catus_9.0 is based on Rodney et al. 2021 (PMID: 33785770)|
|595||Ragdoll (Cat)||Long hair||FGF5||l^Rag (M1)||insertion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.142185646_142185647insA||c.356_357insT||p.(M119Ifs)||NM_001114546.1; NP_001108018.1; published as c.ins356T||2007||17767004||Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.|
Cite this entry
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||Alhaddad, H., Abdi, M., Lyons, L.A. :|
|Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One 16:e0247092, 2021. Pubmed reference: 33630878. DOI: 10.1371/journal.pone.0247092.|
|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.|
|Shaffer, G.D., Ballif, B.C., Meurs, K., Shaffer, L.G., Flores-Smith, H. :|
|Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat. Hum Genet 140:1517-1523, 2021. Pubmed reference: 34599367. DOI: 10.1007/s00439-021-02373-1.|
|2007||Drögemüller, C., Rüfenacht, S., Wichert, B., Leeb, T. :|
|Mutations within the FGF5 gene are associated with hair length in cats. Anim Genet 38:218-21, 2007. Pubmed reference: 17433015. DOI: 10.1111/j.1365-2052.2007.01590.x.|
|Kehler, J.S., David, V.A., Schäffer, A.A., Bajema, K., Eizirik, E., Ryugo, D.K., Hannah, S.S., O'Brien, S.J., Menotti-Raymond, M. :|
|Four independent mutations in the feline fibroblast growth factor 5 gene determine the long-haired phenotype in domestic cats. J Hered 98:555-66, 2007. Pubmed reference: 17767004. DOI: 10.1093/jhered/esm072.|
|2000||Christensen, A.C. :|
|Cats as an aid to teaching genetics. Genetics 155:999-1004, 2000. Pubmed reference: 10880464.|
|Ruiz-Garcia, M. :|
|Is there really natural selection affecting the l frequencies (Long hair) in the Brazilian cat populations? Journal of Heredity 91:49-57, 2000. Pubmed reference: 10739126.|
|1990||Williams, J.A. :|
|Races of short-haired and long-haired cats. Tijdschrift Voor Diergeneeskunde 115:959, 1990.|
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