OMIA 001954-9615 : Neurodegenerative vacuolar storage disease in Canis lupus familiaris |
Syrjä et al. (2017) investigated the cellular alterations in detail and found that basal, but not induced autophagy, is altered in homozygous mutant cells from affected dogs.
In a study aimed "to clarify the origin of the limiting membrane of the accumulating vacuoles and determine whether altered basal autophagy affects the extracellular release of vesicles in cells from diseased dogs" Syrjä et al. (2020) concluded that "An increased release of extracellular vesicles may serve as a compensatory mechanism in disposal of intracellular proteins during dysfunctional basal autophagy in this spontaneous disease."
Breed: Lagotto Romagnolo. Associated gene:Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
ATG4D | autophagy related 4D, cysteine peptidase | Canis lupus familiaris | 20 | NC_051824.1 (51146788..51141597) | ATG4D | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
94 | Lagotto Romagnolo | Neurodegenerative vacuolar storage disease | ATG4D | missense | Naturally occurring variant | CanFam3.1 | 20 | g.50618958C>T | c.1288G>A | p.(A430T) | 2015 | 25875846 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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.
2020 | Syrjä, P., Palviainen, M., Jokinen, T., Kyöstilä, K., Lohi, H., Roosje, P., Anderegg, L., Leeb, T., Sukura, A., Eskelinen, E.L. : | |
Altered basal autophagy affects extracellular vesicle release in cells of Lagotto Romagnolo dogs with a variant ATG4D. Vet Pathol 57:926-35, 2020. Pubmed reference: 33016245. DOI: 10.1177/0300985820959243. | ||
2017 | Syrjä, P., Anwar, T., Jokinen, T., Kyöstilä, K., Jäderlund, K.H., Cozzi, F., Rohdin, C., Hahn, K., Wohlsein, P., Baumgärtner, W., Henke, D., Oevermann, A., Sukura, A., Leeb, T., Lohi, H., Eskelinen, E.L. : | |
Basal autophagy is altered in Lagotto Romagnolo dogs with an ATG4D mutation. Vet Pathol 54:953-63, 2017. Pubmed reference: 28583040. DOI: 10.1177/0300985817712793. | ||
2015 | Kyöstilä, K., Syrjä, P., Jagannathan, V., Chandrasekar, G., Jokinen, T.S., Seppälä, E.H., Becker, D., Drögemüller, M., Dietschi, E., Drögemüller, C., Lang, J., Steffen, F., Rohdin, C., Jäderlund, K.H., Lappalainen, A.K., Hahn, K., Wohlsein, P., Baumgärtner, W., Henke, D., Oevermann, A., Kere, J., Lohi, H., Leeb, T. : | |
A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. PLoS Genet 11:e1005169, 2015. Pubmed reference: 25875846. DOI: 10.1371/journal.pgen.1005169. |
Edit History
- Created by Frank Nicholas on 21 Apr 2015
- Changed by Frank Nicholas on 21 Apr 2015
- Changed by Tosso Leeb on 21 Apr 2015
- Changed by Tosso Leeb on 16 Jun 2017
- Changed by Frank Nicholas on 27 Oct 2020