OMIA 000439-10141 : Hair, long in Cavia porcellus

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

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: unknown

Key variant known: yes

Year key variant first reported: 2018

Cross-species summary: Long hair = angora

Inheritance: Yu et al. (2018): "This mutation was genotyped by direct sequencing analysis in 141 short‐haired and 70 long‐haired individuals. We found 104 homozygous CC and 37 heterozygous CT short‐haired individuals, whereas all long‐haired individuals were homozygous TT, indicating that the long‐haired phenotype is inherited as a recessive trait as in other mammalian species."

Molecular basis: By sequencing the obvious comparative candidate gene, Yu et al. (2018) discovered a likely causal variant for long-haired guinea pigs to be "a nonsense mutation (c.403C>T, p.Arg135Xaa) in exon 2 [of FGF5] . . . , which leads to a truncated protein of 134 amino acids."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
Fgf5 fibroblast growth factor 5 Cavia porcellus - no genomic information (-..-) Fgf5 Homologene, Ensembl, NCBI gene

Variants

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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.

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
Long hair Fgf5 nonsense (stop-gain) c.403C>T p.Arg135* "The data were submitted to the European Variation Archive (accession no. PRJEB24997)" 2018 29603294

Reference


2018 Yu, F., Liu, Z., Jiao, S., Zhang, X., Bai, C., Zhang, J., Yan, S., Yu, F., Liu, Z., Jiao, S., Zhang, X., Bai, C., Zhang, J., Yan, S. :
A nonsense mutation in the FGF5 gene is associated with the long-haired phenotype in domestic guinea pigs (Cavia porcellus). Anim Genet 49:269, 2018. Pubmed reference: 29603294. DOI: 10.1111/age.12656.

Edit History


  • Created by Frank Nicholas on 09 Apr 2018
  • Changed by Frank Nicholas on 09 Apr 2018