OMIA 000439-9685 : Hair, long in Felis catus

In other species: dog , ass , Arabian camel , llama , cattle , goat , sheep , rabbit , golden hamster , domestic guinea pig , domestic yak , alpaca

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 190330 (trait) , 165190 (gene)

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.”

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).

Associated gene:

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

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
1368 Maine Coon Long hair FGF5 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 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 Ragdoll Long hair FGF5 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 Long hair FGF5 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 Long hair FGF5 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.

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 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.

Edit History


  • Created by Frank Nicholas on 26 Nov 2007
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 18 Jan 2015
  • Changed by Imke Tammen2 on 16 Jun 2021
  • Changed by Imke Tammen2 on 19 Oct 2021
  • Changed by Imke Tammen2 on 20 Oct 2021
  • Changed by Tosso Leeb on 22 Oct 2021