OMIA:000439-9615 : Hair, long in Canis lupus familiaris (dog)
Categories: Integument (skin) phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2006
Cross-species summary: Long hair = angora
Mapping: Jones et al. (2008) conducted an across-breed GWAS on 2,801 dogs from 147 breeds, each genotyped for 674 equally spaced SNPs, plus an additional 862 SNPs located in regions of interest. The results highlighted the region on CFA32 containing the FGF5 gene (shown to be causal by Housley and Venta, 2006) and one of lower significance on CFA25.
By conducting a GWAS on "903 dogs from 80 breeds with eight to 12 dogs unrelated at the grandparent level chosen to represent each breed", each dog genotyped with an Affymetrix Version 2 Canine SNP chip (yielding 40,812 informative SNPs for analysis), Cadieu et al. (2009) highlighted the region on chromosome CFA32 that contains the FGF5 gene, a mutation in which had been shown to be causal of hair length by Housley and Venta (2006) (see Molecular Basis section).
Molecular basis: Using the candidate-gene approach, Housley and Venta (2006) sequenced the FGF5 gene in short- and long-haired dogs, and revealed the causative mutation to be "a missense mutation, resulting in the substitution of Phe for Cys, in a highly conserved region. Genotyping of 218 dogs from three breeds fixed for long hair, eight breeds fixed for short hair and five breeds in which long hair is segregating provided evidence that the missense mutation is associated with the hair-length differences among these breeds." Cadieu et al. (2009) confirmed this causal mutation.
Dierks et al. (2013) "detected three novel mutations in the coding sequence and one novel non-coding splice-site mutation in FGF5 associated with the long-hair phenotype".
Have human generated variants been created, e.g. through genetic engineering and gene editing
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FGF5||fibroblast growth factor 5||Canis lupus familiaris||-||no genomic information (-..-)||FGF5||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|
|48||Afghan Hound (Dog) Border Collie (Dog) Cocker Spaniel (Dog) Collie (Dog) Dachshund (Dog) German Shepherd Dog (Dog) Golden Retriever (Dog) obsolete Corgi (Dog) Pomeranian (Dog) Samoyed (Dog)||Long hair||FGF5||missense||Naturally occurring variant||CanFam3.1||32||g.4509367G>T||c.284G>T||p.(C95F)||ROS_Cfam_1.0:g.4533621G>T ENSCAFT00845031580.1:c.290G>T ENSCAFP00845024720.1:p.Cys97Phe||rs851828354||rs851828354||2006||16879338||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|418||Afghan Hound (Dog)||Long hair||FGF5||splicing||Naturally occurring variant||CanFam3.1||32||g.4517257T>A||c.368-11T>A||ROS_Cfam_1.0:g.4541511T>A ENSCAFT00845031580.1:c.368-11T>A||rs397511324||rs397511324||2013||23384345||30 Dec 2020: g. coordinate corrected: thanks to Angelica K Kallenberg|
|952||Eurasier (Dog)||Long hair||FGF5||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||32||g.4528617_4528632del||c.556_571del||p.(A186Tfs*71)||NM_001048129.1; NP_001041594.1; published as c.556_571del16; p.(A186Tfs*69)||rs397509816||rs397509816||2013||23384345||Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.|
|950||Afghan Hound (Dog) Eurasier (Dog)||Long hair||FGF5||duplication||Naturally occurring variant||CanFam3.1||32||g.4528620_4528621dup||c.559_560dup||p.(R188Afs*75)||NM_001048129.1; NP_001041594.1; published as c.559_560dupGG and p.(R188Afs*73)||rs397512451||2013||23384345||Genomic coordinates in CanFam3.1 provided by Zoe Shmidt and Robert Kuhn.|
|104||Akita (Dog) Samoyed (Dog)||Long hair||FGF5||missense||Naturally occurring variant||CanFam3.1||32||g.4528639C>T||c.578C>T||p.(A193V)||NM_001048129.1; NP_001041594.1||2013||23384345||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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.
|2023||Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :|
|Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7.|
|Mujica, P.C., Martinez, V. :|
|A purebred South American breed showing high effective population size and independent breed ancestry: The Chilean Terrier. Anim Genet , 2023. Pubmed reference: 37778752. DOI: 10.1111/age.13359.|
|2021||Serres-Armero, A., Davis, B.W., Povolotskaya, I.S., Morcillo-Suarez, C., Plassais, J., Juan, D., Ostrander, E.A., Marques-Bonet, T. :|
|Copy number variation underlies complex phenotypes in domestic dog breeds and other canids. Genome Res 31:762-774, 2021. Pubmed reference: 33863806. DOI: 10.1101/gr.266049.120.|
|2019||Dreger, D.L., Hooser, B.N., Hughes, A.M., Ganesan, B., Donner, J., Anderson, H., Holtvoigt, L., Ekenstedt, K.J. :|
|True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLoS One 14:e0223995, 2019. Pubmed reference: 31658272. DOI: 10.1371/journal.pone.0223995.|
|2017||Parker, H.G., Harris, A., Dreger, D.L., Davis, B.W., Ostrander, E.A. :|
|The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:20150488, 2017. Pubmed reference: 27994129. DOI: 10.1098/rstb.2015.0488.|
|2013||Dierks, C., Mömke, S., Philipp, U., Distl, O. :|
|Allelic heterogeneity of FGF5 mutations causes the long-hair phenotype in dogs. Anim Genet 44:425-31, 2013. Pubmed reference: 23384345. DOI: 10.1111/age.12010.|
|2009||Cadieu, E., Neff, M.W., Quignon, P., Walsh, K., Chase, K., Parker, H.G., Vonholdt, B.M., Rhue, A., Boyko, A., Byers, A., Wong, A., Mosher, D.S., Elkahloun, A.G., Spady, T.C., André, C., Lark, K.G., Cargill, M., Bustamante, C.D., Wayne, R.K., Ostrander, E.A. :|
|Coat variation in the domestic dog is governed by variants in three genes. Science 326:150-3, 2009. Pubmed reference: 19713490. DOI: 10.1126/science.1177808.|
|2008||Jones, P., Chase, K., Martin, A., Davern, P., Ostrander, EA., Lark, KG. :|
|Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics 179:1033-44, 2008. Pubmed reference: 18505865. DOI: 10.1534/genetics.108.087866.|
|2006||Housley, DJ., Venta, PJ. :|
|The long and the short of it: evidence that FGF5 is a major determinant of canine 'hair'-itability. Anim Genet 37:309-15, 2006. Pubmed reference: 16879338. DOI: 10.1111/j.1365-2052.2006.01448.x.|
|2005||Schrameyer, T., Dekomien, G., Pasternack, S.M., Reinartz, B.S., Santos, E.J., Epplen, J.T. :|
|Long- and short-haired Weimaraner dogs represent two populations of one breed. Electrophoresis 26:1668-72, 2005. Pubmed reference: 15812847. DOI: 10.1002/elps.200410204.|
|1978||Crawford, R.D., Loomis, G. :|
|Inheritance of short coat and long coat in St. Bernard dogs Journal of Heredity 69:266-267, 1978. Pubmed reference: 731015.|
- Created by Frank Nicholas on 02 Oct 2009
- Changed by Frank Nicholas on 29 Nov 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 21 May 2013
- Changed by Frank Nicholas on 22 May 2013