OMIA 000162-10036 : Cardiomyopathy, dilated in Mesocricetus auratus

In other species: domestic cat , cattle , dog , pig , turkey , sea otter , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107970 , 115200 , 611880 , 302060 , 302045 , 600884 , 601494

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: 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.

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 - no genomic information (-..-) SGCD 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Cardiomyopathy, dilated SGCD deletion, gross (>20) 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

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.
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 Proceedings of the National Academy of Sciences of the United States of America 94:13873-13878, 1997. Pubmed reference: 9391120.

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