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TPM3 gene
Introduction
Tropomyosin alpha-3 chain is a protein that in humans is encoded by the TPM3 gene.[1][2]
This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Mutations in this gene result in autosomal dominant nemaline myopathy, and oncogenes formed by chromosomal translocations involving this locus are associated with cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[2]
References
References
Further reading
Further reading
- Lees-Miller JP, Helfman DM (1992). “The molecular basis for tropomyosin isoform diversity”. BioEssays. 13 (9): 429–37. doi:10.1002/bies.950130902. PMID 1796905.
- Pittenger MF, Kazzaz JA, Helfman DM (1994). “Functional properties of non-muscle tropomyosin isoforms”. Curr. Opin. Cell Biol. 6 (1): 96–104. doi:10.1016/0955-0674(94)90122-8. PMID 8167032.
- Gunning P, Weinberger R, Jeffrey P (1997). “Actin and tropomyosin isoforms in morphogenesis”. Anat. Embryol. 195 (4): 311–5. doi:10.1007/s004290050050. PMID 9108196.
- Gunning PW, Schevzov G, Kee AJ, Hardeman EC (2006). “Tropomyosin isoforms: divining rods for actin cytoskeleton function”. Trends Cell Biol. 15 (6): 333–41. doi:10.1016/j.tcb.2005.04.007. PMID 15953552.
- Rasmussen HH, van Damme J, Puype M, et al. (1993). “Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes”. Electrophoresis. 13 (12): 960–9. doi:10.1002/elps.11501301199. PMID 1286667.
- Höner B, Shoeman RL, Traub P (1992). “Degradation of cytoskeletal proteins by the human immunodeficiency virus type 1 protease”. Cell Biol. Int. Rep. 16 (7): 603–12. doi:10.1016/S0309-1651(06)80002-0. PMID 1516138.
- Winder SJ, Walsh MP (1990). “Smooth muscle calponin. Inhibition of actomyosin MgATPase and regulation by phosphorylation”. J. Biol. Chem. 265 (17): 10148–55. PMID 2161834.
- Takahashi K, Hiwada K, Kokubu T (1988). “Vascular smooth muscle calponin. A novel troponin T-like protein”. Hypertension. 11 (6 Pt 2): 620–6. doi:10.1161/01.hyp.11.6.620. PMID 2455687.
- Coulier F, Martin-Zanca D, Ernst M, Barbacid M (1989). “Mechanism of activation of the human trk oncogene”. Mol. Cell. Biol. 9 (1): 15–23. PMC 362140. PMID 2538716.
- Martin-Zanca D, Hughes SH, Barbacid M (1986). “A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences”. Nature. 319 (6056): 743–8. doi:10.1038/319743a0. PMID 2869410.
- Reinach FC, MacLeod AR (1986). “Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene”. Nature. 322 (6080): 648–50. doi:10.1038/322648a0. PMID 3018581.
- MacLeod AR, Houlker C, Reinach FC, Talbot K (1987). “The mRNA and RNA-copy pseudogenes encoding TM30nm, a human cytoskeletal tropomyosin”. Nucleic Acids Res. 14 (21): 8413–26. doi:10.1093/nar/14.21.8413. PMC 311868. PMID 3024106.
- Clayton L, Reinach FC, Chumbley GM, MacLeod AR (1988). “Organization of the hTMnm gene. Implications for the evolution of muscle and non-muscle tropomyosins”. J. Mol. Biol. 201 (3): 507–15. doi:10.1016/0022-2836(88)90633-X. PMID 3418707.
- MacLeod AR, Houlker C, Reinach FC, et al. (1986). “A muscle-type tropomyosin in human fibroblasts: evidence for expression by an alternative RNA splicing mechanism”. Proc. Natl. Acad. Sci. U.S.A. 82 (23): 7835–9. doi:10.1073/pnas.82.23.7835. PMC 390864. PMID 3865200.
- Butti MG, Bongarzone I, Ferraresi G, et al. (1995). “A sequence analysis of the genomic regions involved in the rearrangements between TPM3 and NTRK1 genes producing TRK oncogenes in papillary thyroid carcinomas”. Genomics. 28 (1): 15–24. doi:10.1006/geno.1995.1100. PMID 7590742.
- Laing NG, Wilton SD, Akkari PA, et al. (1995). “A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1”. Nat. Genet. 10 (2): 249. doi:10.1038/ng0695-249a. PMID 7663526.
- Laing NG, Wilton SD, Akkari PA, et al. (1995). “A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy”. Nat. Genet. 9 (1): 75–9. doi:10.1038/ng0195-75. PMID 7704029.
- Wilton SD, Eyre H, Akkari PA, et al. (1994). “Assignment of the human a-tropomyosin gene TPM3 to 1q22→q23 by fluorescence in situ hybridisation”. Cytogenet. Cell Genet. 68 (1–2): 122–4. doi:10.1159/000133905. PMID 7956350.