OMIA 001916-9615 : Familial adenomatous polyposis in Canis lupus familiaris

In other species: pig

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 175100 (trait) , 611731 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2020

Molecular basis: Yoshizaki et al. (2020) reported that "all examined JRTs with GI polyps (n=21) harbored the identical heterozygous germline APC mutations, represented by a two-base pair substitution [c.[462_463delinsTT]]. The latter substitution was a nonsense mutation (p.K155X) resulting in a truncated APC protein, thus suggesting a strong association with this cancer-prone disorder."

Prevalence: From a sample of 792 Jack Russel Terriers (JRTs) from 93 Japanese veterinary clinics, Yoshizaki et al. (2022) reported that "The current frequency of the germline APC variant [c.[462_463delinsTT]; OMIA variant 1206] was approximately 2% in JRTs in Japan and the frequency remained roughly flat during the last 15 years. In addition, hereditary GI polyposis associated with the variant was virtually specific to JRTs."

Genetic testing: Yoshizaki et al. (2021) reported a PCR-based genotyping test for the c.[462_463delinsTT] variant.

Breed: Jack Russell Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
APC adenomatous polyposis coli Canis lupus familiaris 3 NC_051807.1 (224101..93843) APC 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
1206 Jack Russell Terrier Familial Adenomatous Polyposis APC delins, small (<=20) Naturally occurring variant CanFam3.1 3 g.312131_312132delinsAA c.[462_463delinsTT] p.(K155X) XM_014111995.2; XP_013967470.1 2020 32445578 Reference assembly and genomic location kindly provided by Kyoko Yoshizaki, 17 Dec 2020

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.
2022 Yoshizaki, K., Hirata, A., Matsushita, H., Sakaguchi, M., Yoneji, W., Owaki, K., Sakai, H. :
Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution. BMC Vet Res 18:230, 2022. Pubmed reference: 35717217. DOI: 10.1186/s12917-022-03338-w.
2021 Yoshizaki, K., Hirata, A., Matsushita, H., Nishii, N., Kawabe, M., Mori, T., Sakai, H. :
PCR-based genotyping assays to detect germline APC variant associated with hereditary gastrointestinal polyposis in Jack Russell terriers. BMC Vet Res 17:32, 2021. Pubmed reference: 33461531. DOI: 10.1186/s12917-020-02731-7.
2020 Yoshizaki, K., Hirata, A., Nishii, N., Kawabe, M., Goto, M., Mori, T., Sakai, H. :
Familial adenomatous polyposis in dogs: Hereditary gastrointestinal polyposis in Jack Russell terriers with germline APC mutations. Carcinogenesis 42:70-9, 2020. Pubmed reference: 32445578. DOI: 10.1093/carcin/bgaa045.

Edit History


  • Created by Frank Nicholas on 02 Jun 2020
  • Changed by Frank Nicholas on 22 Jan 2021
  • Changed by Frank Nicholas on 20 Jun 2022