OMIA 000162-9103 : Cardiomyopathy, dilated in Meleagris gallopavo

In other species: domestic cat , cattle , dog , pig , golden hamster , 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: 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 (265415..273619) TNNT2 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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 TNNT2 splicing 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.
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