OMIA:002608-9615 : Modifier of copper toxicosis, ATP7A-related in Canis lupus familiaris
Categories: Homeostasis / metabolism phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 300011 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: X-linked
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2016
Cross-species summary: Excessive copper deposition in the body due to variants in the ATP7B gene has been named Wilson disease. Genetic modifiers have been reported to partly protect against copper accumulation in animals with Wilson disease.
Mapping: Guevara-Fujita et al (1996) mapped the canine ATP7A gene to the X chromosome.
Molecular basis: Fieten et al. (2016): "the amino acid substitution ATP7A:p.Thr327Ile partly protected against copper accumulation"
Breed: Labrador Retriever.
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ATP7A||ATPase, Cu++ transporting, alpha polypeptide||Canis lupus familiaris||X||NC_051843.1 (61442067..61595242)||ATP7A||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|107||Labrador Retriever||Modifier of copper toxicosis||ATP7A||missense||Naturally occurring variant||CanFam3.1||X||g.60279238C>T||c.980C>T||p.(T327I)||rs852523339||rs852523339||2016||26747866||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool. The phenotype was renamed from 'Menkes disease' to 'Modifier of copper toxicosis' based on feedback from Tom Nagels [10/01/2023].|
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||Takanosu, M., Suzuki, K. :|
|Genotype frequency of ATP7A and ATP7B mutation-related copper-associated hepatitis in a Japanese guide dog Labrador retriever population. J Vet Med Sci 84:16-19, 2022. Pubmed reference: 34819411 . DOI: 10.1292/jvms.21-0369.|
|2021||Corbee, R.J., Penning, L.C. :|
|COMMD1 exemplifies the power of inbred dogs to dissect genetic causes of rare copper-related disorders. Animals (Basel) 11:601, 2021. Pubmed reference: 33668783 . DOI: 10.3390/ani11030601.|
|2020||Wu, X., den Boer, E.R., Vos-Loohuis, M., Steenbeek, F.G.V., Monroe, G.R., Nijman, I.J., Leegwater, P.A.J., Fieten, H. :|
|Investigation of genetic modifiers of copper toxicosis in Labrador Retrievers. Life (Basel) 10:266, 2020. Pubmed reference: 33142854 . DOI: 10.3390/life10110266.|
|2019||Pindar, S., Ramirez, C. :|
|Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs. Hum Genet 138:541-546, 2019. Pubmed reference: 31062085 . DOI: 10.1007/s00439-019-02010-y.|
|2016||Fieten, H., Gill, Y., Martin, A.J., Concilli, M., Dirksen, K., van Steenbeek, F.G., Spee, B., van den Ingh, T.S., Martens, E.C., Festa, P., Chesi, G., van de Sluis, B., Houwen, R.H., Watson, A.L., Aulchenko, Y.S., Hodgkinson, V.L., Zhu, S., Petris, M.J., Polishchuk, R.S., Leegwater, P.A., Rothuizen, J. :|
|The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Dis Model Mech 9:25-38, 2016. Pubmed reference: 26747866 . DOI: 10.1242/dmm.020263.|
|1996||Guevara-Fujita, M.L., Loechel, R., Venta, P.J., Yuzbasiyan-Gurkan, V., Brewer, G.J. :|
|Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization Mammalian Genome 7:268-270, 1996. Pubmed reference: 8661696 .|
- Created by Imke Tammen2 on 10 Jan 2023
- Changed by Imke Tammen2 on 10 Jan 2023