Journal of Genetics

, Volume 88, Issue 3, pp 373–377 | Cite as

Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population

  • Ushasree Boda
  • Shivani Vadapalli
  • Narsimhan Calambur
  • Pratibha NallariEmail author
Research Note


beta-myosin heavy chain alpha-cardiac actin cardiac troponin-I novel sarcomere mutations codon bias dilated cardiomyopathy human genetics 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Anthony V. and Skach W. R. 2002 Molecular mechanism of Pglycoprotein assembly into cellular membranes. Curr. Protein Pept. Sci. 3, 485–501.CrossRefPubMedGoogle Scholar
  2. Capell B. C. and Collins F. S. 2006 Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. 7, 940–952.CrossRefPubMedGoogle Scholar
  3. Daehmlow S., Erdmann J., Knueppel T., Gille C., Froemmel C., Manfred H.M. et al. 2002 Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. Biochem. Biophy. Res. Comm. 298, 116–120.CrossRefGoogle Scholar
  4. Houdusse A., Kalabokis V. N., Himmel D., Szent-Gyorgyi A. G. and Cohen C. 1999 Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head. Cell 97, 459–470.CrossRefPubMedGoogle Scholar
  5. Josep M. C. 2005 Weak selection and recent mutational changes influence polymorphic synonymous mutations in humans: Proc. Natl. Acad. Sci. USA 103, 6940–6945.Google Scholar
  6. Kamisago M., Sharma S. D. and DePalma S. R. 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343, 1688–1696.CrossRefPubMedGoogle Scholar
  7. Lahari D. and Nurunberger J. A. 1991 rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 19, 5444.CrossRefGoogle Scholar
  8. Malnic B., Farah C. S. and Reinach F. C. 1998 Regulatory properties of the NH2- and COOH-terminal domains of troponin T. ATPase activation and binding to troponin I and troponin C. J. Biol. Chem. 273, 10594–10601.CrossRefPubMedGoogle Scholar
  9. Murphy R. T., Mogensen J., Shaw A., Kubo T., Hughes S. and McKenna W. J. 2004 Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363, 371–372.CrossRefPubMedGoogle Scholar
  10. Olbrich H. G. 2001 Epidemiology-etiology of dilated cardiomyopathy. Z. Kardiol. 90, 2–9.CrossRefPubMedGoogle Scholar
  11. Orita M., Iwahana H., Kanazawa H., Hayashi K. and Sekiya T. 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphism. Proc. Natl. Acad. Sci. USA 86, 2766–2770.CrossRefPubMedGoogle Scholar
  12. Pascale R., Philippe C., Lucie C., Ledeuil C., Theary C., Pichereau C. et al. 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 107, 2227–2232.CrossRefGoogle Scholar
  13. Rai T. S., Ahmad S., Bahl A., Ahuja A., Ahluwalia T. S., Singh B. et al. 2009 Genotype phenotype correlations of cardiac betamyosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy. Mol. Cell. Biochem. 321, 189–196.CrossRefPubMedGoogle Scholar
  14. Supek F. and Vlahovicek K. 2005 Comparison of codon usage measures and their applicability in prediction of microbial gene expressivity. BMC Bioinform. 6, 182.CrossRefGoogle Scholar
  15. Vasile V. C., Will M. L., Ommen S. R., Edwards W. D., Olson T. M. and Ackerman M. J. 2006 Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol. Genet. Met. 87, 169–174.CrossRefGoogle Scholar
  16. Wang D. and Wolfgang S. 2006 Searching for polymorphisms that affect gene expression and mRNA processing: example ABCB1 (MDR1). APPS J. 8, E515–E552.Google Scholar
  17. Yanhong Z., Quanxiong Z., Huailan L. and Honghui W. 2005 Predicting disease genes for familial dilated cardiomyopathy based on the codon usage bias. Chin. Sci. Bull. 50, 2028–2032.CrossRefGoogle Scholar

Copyright information

© Indian Academy of Sciences 2009

Authors and Affiliations

  • Ushasree Boda
    • 1
  • Shivani Vadapalli
    • 1
  • Narsimhan Calambur
    • 2
  • Pratibha Nallari
    • 1
    Email author
  1. 1.Department of GeneticsOsmania UniversityHyderabadIndia
  2. 2.Department of CardiologyCare HospitalNampally, HyderabadIndia

Personalised recommendations