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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

TNNI2  -  troponin I type 2 (skeletal, fast)

Homo sapiens

Synonyms: AMCD2B, DA2B, FSSV, Troponin I, fast skeletal muscle, Troponin I, fast-twitch isoform, ...
 
 
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Disease relevance of TNNI2

  • A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression [1].
  • OBJECTIVE: To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2 [2].
 

High impact information on TNNI2

  • We previously mapped a locus for DA type 2B (DA2B), the most common of the DAs, to chromosome 11 [3].
  • Our work represents the first report on the link between TNNI2 and the DA phenotype in Chinese [1].
  • Here, we have isolated two independent human PAC genomic clones that contain either TNNI2 or TNNT3 and demonstrate by interphase FISH mapping that they are less than 100 kb apart in the genome [4].
  • Our data further confirm close physical linkage of TNNI2 and TNNI3 on 11p15.5 [4].
  • Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2) [4].
 

Biological context of TNNI2

  • Here, we describe the structure and complete sequence of the human fast skeletal muscle troponin I gene (TNNI2) and identify putative regulatory elements within both the 5' flanking region and the first intron [4].
  • Follow up DNA sequencing of the TNNI2 gene detected a three base pair deletion that would be predicted to result in the deletion of a glutamic acid at codon position 167 (DeltaE167) [5].
 

Anatomical context of TNNI2

  • Analysis of TNNI2 encoding the troponin I isoform expressed in type 2 muscle fibers disclosed a heterozygous three-base in-frame deletion, 2,918-2,920del, skipping the highly conserved lysine at position 176 [2].
 

Other interactions of TNNI2

 

Analytical, diagnostic and therapeutic context of TNNI2

References

  1. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Jiang, M., Zhao, X., Han, W., Bian, C., Li, X., Wang, G., Ao, Y., Li, Y., Yi, D., Zhe, Y., Lo, W.H., Zhang, X., Li, J. Hum. Genet. (2006) [Pubmed]
  2. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Kimber, E., Tajsharghi, H., Kroksmark, A.K., Oldfors, A., Tulinius, M. Neurology (2006) [Pubmed]
  3. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Sung, S.S., Brassington, A.M., Grannatt, K., Rutherford, A., Whitby, F.G., Krakowiak, P.A., Jorde, L.B., Carey, J.C., Bamshad, M. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). Mullen, A.J., Barton, P.J. Gene (2000) [Pubmed]
  5. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Shrimpton, A.E., Hoo, J.J. European journal of medical genetics. (2006) [Pubmed]
  6. Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman. Rajab, A., Hoffmann, K., Ganesh, A., Sethu, A.U., Mundlos, S. Am. J. Med. Genet. A (2005) [Pubmed]
  7. Localization of the fast skeletal muscle troponin I gene (TNNI2) to 11p15.5: genes for troponin I and T are organized in pairs. Barton, P.J., Townsend, P.J., Brand, N.J., Yacoub, M.H. Ann. Hum. Genet. (1997) [Pubmed]
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