OMIA:000162-10036 : Cardiomyopathy, dilated in Mesocricetus auratus (golden hamster) |
In other species: turkey , dog , domestic cat , pig , taurine cattle , rabbit , sea otter , meerkat , black-pencilled marmoset
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 107970 (trait) , 115200 (trait) , 611880 (trait) , 302060 (trait) , 302045 (trait) , 600884 (trait) , 601494 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Disease-related: yes
Key variant known: yes
Year key variant first reported: 1997
Cross-species summary: A disorder characterised by cardiac enlargement (especially of the left ventricle), poor myocardial contractility, and congestive heart failure. This disorder occurs in many different forms (see gene specific entries), some of which are not inherited.
History: The inbred line characterised by this disorder is called TO-2.
Molecular basis: By sequencing a positional candidate gene in the both the TO-2 strain and the BIO14.6 strain (see OMIA 000515-10036), Sakamoto et al. (1997) identified a causal mutation that appears to be the same as that discovered in the BIO14.6 strain by Nigro et al. (1997) (see OMIA 000515-10036): "A breakpoint causing genomic deletion was found to be located at 6.1 kb 5′ upstream of the second exon of δ-SG gene, and its 5′ upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted. This deletion included the major transcription initiation site, resulting in a deficiency of δ-SG transcripts with the consequent loss of δ-SG protein in all the CM hamsters".
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | Mesocricetus auratus | NW_024429191.1 (27404137..26803015) | SGCD | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 651 | Cardiomyopathy, dilated | SGCD | deletion, gross (>20) | Naturally occurring variant | genomic deletion was found to be located at 6.1 kb 5' upstream of the second exon of δ-SG gene, and its 5' upstream region of more than 27.4 kb, including the authentic first exon of δ-SG gene, was deleted | 1997 | 9391120 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2014). OMIA:000162-10036: 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.
| 2013 | Maekawa, K., Hirayama, A., Iwata, Y., Tajima, Y., Nishimaki-Mogami, T., Sugawara, S., Ueno, N., Abe, H., Ishikawa, M., Murayama, M., Matsuzawa, Y., Nakanishi, H., Ikeda, K., Arita, M., Taguchi, R., Minamino, N., Wakabayashi, S., Soga, T., Saito, Y. : |
| Global metabolomic analysis of heart tissue in a hamster model for dilated cardiomyopathy. J Mol Cell Cardiol 59:76-85, 2013. Pubmed reference: 23454301. DOI: 10.1016/j.yjmcc.2013.02.008. | |
| 1997 | Nigro, V., Okazaki, Y., Belsito, A., Piluso, G., Matsuda, Y., Politano, L., Nigro, G., Ventura, C., Abbondanza, C., Molinari, A.M., Acampora, D., Nishimura, M., Hayashizaki, Y., Puca, G.A. : |
| Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 6:601-7, 1997. Pubmed reference: 9097966. DOI: 10.1093/hmg/6.4.601. | |
| Sakamoto, A., Ono, K., Abe, M., Jasmin, G., Eki, T., Murakami, Y., Masaki, T., Toyooka, T., Hanaoka, F. : | |
| Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster - an animal model of disrupted dystrophin-associated glycoprotein complex Proc Natl Acad Sci U S A 94:13873-8, 1997. Pubmed reference: 9391120. DOI: 10.1073/pnas.94.25.13873. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 08 Dec 2011
- Changed by Frank Nicholas on 21 Mar 2012
- Changed by Frank Nicholas on 26 Feb 2014