OMIA 000439-9615 : Hair, long in Canis lupus familiaris

In other species: domestic cat , goat , golden hamster , rabbit , cattle , ass , domestic guinea pig , llama

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".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FGF5 fibroblast growth factor 5 Canis lupus familiaris 32 NC_006614.3 (4508810..4529449) 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.

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
Afghan Hound Eurasier Long hair FGF5 duplication CanFam 3.1 32 c.559_560dupGG p.R188Afs*73 2013 23384345
Eurasier Long hair FGF5 deletion, small (<=20) CanFam3.1 32 c.556_571del16 p.A186Tfs*69 2013 23384345
Afghan Hound Border Collie Cocker Spaniel Collie Corgi Dachshund German Shepherd Dog Golden Retriever Pomeranian Samoyed Long hair FGF5 missense CanFam3.1 32 g.4509367G>T c.284G>T p.C95F 2006 16879338 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Akita Samoyed Siberian Huskie Long hair FGF5 missense CanFam3.1 32 g.4528639C>T c.578C>T p.A193V 2013 23384345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool
Afghan Hound Long hair FGF5 splicing CanFam3.1 32 g.8193T>A 2013 23384345

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.
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:, 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.

Edit History


  • 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