Mutations of connexin43 in fetuses with congenital heart malformations

Chinese Medical Journal

Volumn 118, Issue 12, 2005, Pages 971-976

  Chen, Ping ^a   Xie, Li Jian ^a   Huang, Guo Ying ^a   Zhao, Xiao Qing ^a   Chang, Cai ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

Congenital heart malformation; Connexin43; Fetus; Gene; Mutation

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; CONNEXIN 43; DNA; GLYCINE; LEUCINE; PROLINE; SERINE; THREONINE; TRYPTOPHAN;

AORTA COARCTATION; ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DNA SEQUENCE; FETUS; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPLASTIC LEFT HEART SYNDROME; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATENT DUCTUS ARTERIOSUS; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM;

CONNEXIN 43; FETUS; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 21344464697     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Britz-Cunningham SH, Shah MM, Zuppan CW, et al. Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Eng J Med 1995;332:1323-1329.
2. Dasgupta C, Martinez AM, Zuppan CW, et al. Identification of connexin43 gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mut Res 2001;479:173-186.
3. Splitt MP, Burn J, Goodship J. Connexin43 mutation in sporadic and familial defects of laterality. N Eng J Med 1995;333:941-942.
4. Gebbia M, Towbin JA, Casey B. Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 1996;94:1909-1912.
5. Debrus S, Tuffery S, Matsuoka R, et al. Lack of evidence for connexin43 gene mutations in human autosomal recessive lateralization defects. J Mol Cell Cardiol 1997;29:1423-1431.
6. Splitt MP, Tsai MY, Burn J, et al. Absence of mutations in the regulatory domain of the gap junction protein connexin43 in patients with viscroatrial heterotaxy. Heart 1997;77:369-370.
7. Forsthoefel KF, Papp AC, Snyder PJ, et al. Optimization of DNA extraction from formalin-fixed tissue and its clinical application in Duchenne muscular dystrophy. Am J Clin Pathol 1992;98:98-104.
8. Fishman GI, Eddy RL, Shows TB, et al. The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics 1991;10:250-256.
9. Gap junction alpha-1 protein (Connexin43) (Cx43) (Gap junction 43 kDa heart protein). NCBI sequence viewer. (Accessed at http://www.ncbi.nlm.nih.gov/entrez/ viewer.fcgi?db=protein&val=117706).
10. Human connexin43 gap junction protein (connexin43) gene, exon 1 and promoter region. NCBI sequence viewer. (Accessed at http://www.ncbi.nlm.nih.gov/entrez/ viewer.fcgi?db=nucleotide&val=1565304).
11. Homo sapiens gap junction protein, alpha 1, 43 kDa (connexin43) (GJA1), mRNA. NCBI sequence viewer. (Accessed at http://www.ncbi.nlm.nih.gov/entrez/ viewer.fcgi?db=nucleotide&val=4755136
12. Reaume AG, de Sousa PA, Kulkarni S, et al. Cardiac malformation in neonatal mice lacking connexin43. Science 1995;267:1831-1834.
13. Ewart JL, Cohen MF, Meyer RA, et al. Heart and neural tube defects in transgenic mice overexpressing the Cx43 gap junction gene. Development 1997;124: 1281-1292.
14. Huang GY, Wessels A, Smith BR, et al. Alterations in connexin 43 gap junction gene dosage impair heart development. Dev Biol 1998;198:32-42.
15. Stagg RB, Fletcher WH. The hormone-induced regulation of contact-dependent cell-cell communication by phosphorylation. Endo Rev 1990;11:302-325.
16. Godwin AJ, Green LM, Walsh MP, et al. In situ regulation of cell-cell communication by the cAMP-dependent protein kinase and protein kinase C. Mol Cell Biochem 1993;127-128:293-307.
17. Lampe PD, TenBroek EM, Burt JM, et al. Phosphorylation of connexin43 on serine368 by protein kinase C regulates gap junctional communication. J Cell Biol 2000;149:1503-1512.
18. Duncan JC, Fletcher WH. Alpha1 connexin (connexin43) gap junctions and activities of cAMP-dependent protein kinase and protein kinase C in developing mouse heart. Dev Dyn 2002;223:96-107.
19. Levin M, Mercola M. Gap junctions are involved in the early generation of left-right asymmetry. Dev Biol 1998; 203:90-105.
20. Levin M, Mercola M. Gap junctions-mediated transfer of left-right patterning signals in the early chick blastoderm is upstream of Shh asymmetry in the node. Development 1999;126:4703-4714.
21. Meth M. Patterns of mutations in cancer cells. In: Lindahl T, ed. Cancer survey: genetic instability in cancer. New York: Cold Spring Harbor Laboratory Press; 1996:33-36.
22. van Veen AA, van Rijen HV, Opthof T. Cardiac gap junction channels: modulation of expression and channel properties. Cardiovas Res 2001;51:217-229.
23. Chen HI, Sudol M. The WW domain of Yes-associated protein binds a novel proline-rich ligand that differs from the consensus established for SH3-binding modules. Proc Natl Acad Sci USA 1995;92:7819-7823.
24. Thomas MA, Zosso N, Scerri I, et al. A tyrosine-based sorting signal is involved in connexin43 stability and gap junction turnover. J Cell Sci 2003;116:2213-2222.
25. Lo CW, Cohen MF, Huang GY, et al. Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cells. Dev Genet 1997;20:119-132.
26. Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003;72:408-418.
27. Hayashi K. PCR-SSCP. A simple and sensitive method for detection of mutations in the genomic DNA. PCR Meth Applic 1991;1:34-38.
28. Greenblatt MS, Bennett WP, Hollstein M, et al. Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis. Cancer Res 1994;54:4855-4878.
29. Signoretti S, Murphy M, Cangi MG, et al. Detection of clonal T-cell receptor gamma gene rearrangements in paraffin-embedded tissue by polymerase chain reaction and nonradioactive single-strand conformational polymorphism analysis. Am J Pathol 1999;154:67-75.