OMIA:000162-9103 : Cardiomyopathy, dilated in Meleagris gallopavo |
In other species: domestic cat , taurine cattle , dog , pig , golden hamster , sea otter , rabbit
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 107970 (trait) , 115200 (trait) , 611880 (trait) , 302060 (trait) , 302045 (trait) , 600884 (trait) , 601494 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2002
Cross-species summary: A disorder characterised by cardiac enlargement (especially of the left ventricle), poor myocardial contractility, and congestive heart failure.
Molecular basis: Biesiadecki et al. (2002) reported "that turkeys with inherited dilated cardiomyopathy and heart failure express an unusual low molecular weight cardiac troponin T missing 11 amino acids due to the splice out of the normally conserved exon 8-encoded segment. The deletion of a 9-bp segment from intron 7 of the turkey cardiac troponin T gene may be responsible for the weakened splicing of the downstream exon 8 during mRNA processing. The exclusion of the exon 8-encoded segment results in conformational changes in cardiac troponin T, an altered binding affinity for troponin I and tropomyosin, and an increased calcium sensitivity of the actomyosin ATPase. Expression of the exon 8-deleted cardiac troponin T prior to the development of cardiomyopathy in turkeys indicates a novel RNA splicing disease and provides evidence for the role of troponin T structure-function variation in myocardial pathogenesis and heart failure."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| TNNT2 | troponin T type 2 (cardiac) | Meleagris gallopavo | 28 | NC_015038.2 (265422..273601) | TNNT2 | 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 | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 397 | Cardiomyopathy, dilated | TNNT2 | splicing | Naturally occurring variant | delGGGCTCCTC | 2002 | 11886865 |
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.
| 2015 | Frame, D.D., Kelly, E.J., Van Wettere, A. : |
| Dilated Cardiomyopathy in a Rio Grande Wild Turkey (Meleagris gallopavo intermedia) in Southern Utah, USA, 2013. J Wildl Dis 51:790-2, 2015. Pubmed reference: 25919467 . DOI: 10.7589/2014-09-228. | |
| 2007 | Lin, K.C., Xu, J., Kamara, D., Geng, T., Gyenai, K., Reed, K.M., Smith, E.J. : |
| DNA sequence and haplotype variation in two candidate genes for dilated cardiomyopathy in the turkey Meleagris gallopavo. Genome 50:463-9, 2007. Pubmed reference: 17612615 . DOI: 10.1139/g07-022. | |
| Reed, K.M., Mendoza, K.M., Hu, G.R., Sullivan, L.R., Grace, M.W., Chaves, L.D., Kooyman, D.L. : | |
| Genomic analysis of genetic markers associated with inherited cardiomyopathy (round heart disease) in the turkey (Meleagris gallopavo). Anim Genet 38:211-7, 2007. Pubmed reference: 17433016 . DOI: 10.1111/j.1365-2052.2007.01589.x. | |
| 2006 | Lin, K.C., Gyenai, K., Pyle, R.L., Geng, T., Xu, J., Smith, E.J. : |
| Candidate gene expression analysis of toxin-induced dilated cardiomyopathy in the turkey (Meleagris gallopavo). Poult Sci 85:2216-21, 2006. Pubmed reference: 17135679 . DOI: 10.1093/ps/85.12.2216. | |
| 2004 | Biesiadecki, BJ., Schneider, KL., Yu, ZB., Chong, SM., Jin, JP. : |
| An R111C polymorphism in wild turkey cardiac troponin I accompanying the dilated cardiomyopathy-related abnormal splicing variant of cardiac troponin T with potentially compensatory effects. J Biol Chem 279:13825-32, 2004. Pubmed reference: 14736877 . DOI: 10.1074/jbc.M314225200. | |
| 2002 | Biesiadecki, B.J., Jin, J.P. : |
| Exon skipping in cardiac troponin T of turkeys with inherited dilated cardiomyopathy Journal of Biological Chemistry 277:18459-18468, 2002. Pubmed reference: 11886865 . DOI: 10.1074/jbc.M200788200. | |
| 1996 | Genao, A., Seth, K., Schmidt, U., Carles, M., Gwathmey, J.K. : |
| Dilated cardiomyopathy in turkeys - an animal model for the study of human heart failure Laboratory Animal Science 46:399-404, 1996. Pubmed reference: 8872990 . | |
| 1993 | Gruver, E.J., Glass, M.G., Marsh, J.D., Gwathmey, J.K. : |
| An Animal Model of Dilated Cardiomyopathy - Characterization of Dihydropyridine Receptors and Contractile Performance American Journal of Physiology 265:H1704-H1711, 1993. Pubmed reference: 8238583 . |
Edit History
- Created by Frank Nicholas on 29 Nov 2005
- Changed by Frank Nicholas on 12 Oct 2011
- Changed by Frank Nicholas on 12 Dec 2011
- Changed by Frank Nicholas on 22 Jan 2012