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

Journal of Genetics

Volumn 88, Issue 3, 2010, Pages 373-377

  Boda, Ushasree ^a   Vadapalli, Shivani ^a   Calambur, Narsimhan ^b   Nallari, Pratibha ^a  

^a OSMANIA UNIVERSITY   (India)

^b CARE HOSPITAL   (India)

Author keywords

Alpha cardiac actin; Beta myosin heavy chain; Cardiac troponin I; Codon bias; Dilated cardiomyopathy; Human genetics; Novel sarcomere mutations

Indexed keywords

ACTC1 PROTEIN, HUMAN; ACTIN; CARDIAC MYOSIN; MYH7 PROTEIN, HUMAN; MYOSIN HEAVY CHAIN; TROPONIN I;

AGAR GEL ELECTROPHORESIS; ARTICLE; CONGESTIVE CARDIOMYOPATHY; GENETIC PREDISPOSITION; GENETICS; HUMAN; INDIA; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ACTINS; BASE SEQUENCE; CARDIAC MYOSINS; CARDIOMYOPATHY, DILATED; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; POLYMORPHISM, SINGLE NUCLEOTIDE; TROPONIN I;

EID: 73949119706     PISSN: 00221333     EISSN: 09737731     Source Type: Journal    
DOI: 10.1007/s12041-009-0057-3     Document Type: Article

References (17)

1. Anthony V. and Skach W. R. 2002 Molecular mechanism of Pglycoprotein assembly into cellular membranes. Curr. Protein Pept. Sci. 3, 485-501.
2. Capell B. C. and Collins F. S. 2006 Human laminopathies: nuclei gone genetically awry. Nat. Rev. Genet. 7, 940-952.
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.
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. Cell97, 459-470.
5. Josep M. C. 2005 Weak selection and recent mutational changes influence polymorphic synonymous mutations in humans: Proc. Natl. Acad. Sci. USA103, 6940-6945.
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.
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.
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.
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. Lancet363, 371-372.
10. Olbrich H. G. 2001 Epidemiology-etiology of dilated cardiomyopathy. Z. Kardiol. 90, 2-9.
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. USA86, 2766-2770.
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. Circulation107, 2227-2232.
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.
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.
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.
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.
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.