OMIA:002177-9615 : Amelogenesis imperfecta, ACP4-related in Canis lupus familiaris (dog) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617297 (trait) , 606362 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2019
Cross-species summary: defect of dental enamel formation
Molecular basis: Hytönen et al. (2019) reported a likely causal variant of this disorder in Akita and American Akita: "A 1-bp insertion in ACP4 [=ACPT] (c.1189dupG) is predicted to lead to a frameshift, p.(Ala397Glyfs), resulting in an abnormal C-terminal part of the protein, and hypoplastic AI [amelogenesis imperfecta]".
Prevalence: Hytönen et al. (2019) : "To evaluate the segregation pattern, we genotyped the variant by Sanger sequencing in a cohort of 159 Akitas including 6 affected dogs and 153 control samples from our biobank. All affected dogs were homozygous for the variant. Among the control population, we found two dogs, littermates, that were homozygous for the variant and the rest were either heterozygous (n = 36) or homozygous (n = 115) for the wild-type allele (Fig. 4). We also screened the variant in a cohort containing samples from 78 dogs from three-related breeds, including American Akitas (n = 197), Alaskan Malamutes (n = 36), Kai (n = 9) and Hokkaido (n = 3). The screening revealed one homozygote and 44 heterozygotes in American Akitas and no variants in other breeds. The two Akitas and one American Akita that were homozygous for the variant were confirmed to be affected by AI. The carrier frequency was calculated to be 22% in both Akitas and American Akitas. In summary, the ACP4 variant fully segregated with AI in the studied breeds."
Breeds:
Akita (Dog) (VBO_0200010),
American Akita (Dog) (VBO_0200027).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ACPT | acid phosphatase, testicular | Canis lupus familiaris | 1 | NC_051805.1 (106568222..106563986) | ACPT | 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.
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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1045 | Akita (Dog) American Akita (Dog) | Amelogenesis imperfecta, ACP4-related | ACPT | insertion, small (<=20) | Naturally occurring variant | CanFam3.1 | 1 | g.106051997dupC | c.1189dupG | p.(A397Gfs) | XM_541473.2; XP_541473.2; ACPT is a synonym of ACP4 | 2019 | 30877375 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002177-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 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. | |
| 2019 | Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. : |
| Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet 138:525-533, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8. |
Edit History
- Created by Frank Nicholas on 20 Mar 2019
- Changed by Frank Nicholas on 21 Mar 2019
- Changed by Imke Tammen2 on 04 Feb 2022