Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss

European Journal of Human Genetics

Volumn 17, Issue 4, 2009, Pages 502-509

  Mani, Ram Shankar ^a,e   Ganapathy, Aparna ^a   Jalvi, Rajeev ^b   Srikumari Srisailapathy, C R ^c   Malhotra, Vikas ^d   Chadha, Shelly ^d   Agarwal, Arun ^d   Ramesh, Arabandi ^c   Rangasayee, Raghunath Rao ^b   Anand, Anuranjan ^a  

^a JAWAHARLAL NEHRU CENTRE FOR ADVANCED SCIENTIFIC RESEARCH   (India)

^b Ali Yavar Jung National Institute for the Hearing Handicapped Mumbai   (India)

^c UNIVERSITY OF MADRAS   (India)

^d MAULANA AZAD MEDICAL COLLEGE   (India)

^e UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ARGININE; CONNEXIN 26; CYTIDINE; GLUTAMINE; GUANOSINE; ISOLEUCINE; METHIONINE; PROLINE; SERINE; THREONINE; THYMIDINE; TRYPTOPHAN; TYROSINE; VALINE;

ARTICLE; CELL MEMBRANE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; GAP JUNCTION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; PATHOGENESIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; STOP CODON;

CONNEXINS; GAP JUNCTIONS; HEARING LOSS, SENSORINEURAL; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION;

EID: 62849103884     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.179     Document Type: Article

References (32)

1. Marazita ML, Ploughman LM, Rawlings B, Remington E, Arnos KS, Nance WE: Genetic epidemiological studies of early-onset deafness in the US school-age population. Am J Med Genet 1993; 46: 486-491.
2. Denoyelle F, WeHl D, Maw MA et al: Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997; 6: 2173-2177.
3. Zelante L, Gasparini P, Estivill X et al: Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997; 6: 1605-1609.
4. Estivill X, Fortina P, Surrey S et al: Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 1998; 351 394-398.
5. Kelley PM, Harris DJ, Comer BC et al: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998; 62: 792-799.
6. Ohtsuka A, Yuge I, Kimura S et al: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet 2003; 112: 329-333.
7. Kelsell DP, Dunlop J, Stevens HP et al: Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997; 387: 80-83.
8. Denoyelle F, Lina-Granade G, Plauchu H et al: Connexin 26 gene linked to a dominant deafness. Nature 1998; 393: 319-320.
9. Morell RJ, Kim HJ, Hood LJ et al: Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998; 339: 1500-1505.
10. Sobe T, Erlich P, Berry A et al: High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim. Am J Med Genet 1999; 86: 499-500.
11. Lautermann J, Frank HG, Jahnke K, Traub O, Winterhager E: Developmental expression patterns of connexin26 and -30 in the rat cochlea. Dev Genet 1999; 25: 306-311.
12. Kumar NM, Gilula NB: The gap junction communication channel. Cell 1996; 84: 381-388.
13. Petit C, Levilliers J, Hardelin JP: Molecular genetics of hearing loss. Annu Rev Genet 2001; 35: 589-646.
14. Beltramello M, Piazza V, Bukauskas FF, Pozzan T, Mammano F: Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 2005; 7: 63-69.
15. Zhang Y, Tang W, Ahmad S, Sipp JA, Chen P, Lin X: Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci USA 2005; 102: 15201-15206.
16. Oshima A, Tani K, Hiroaki Y, Fujiyoshi Y, Sosinsky GE: Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule. Proc Natl Acad Sci USA 2007; 104: 10034-10039.
17. RamShankar M, Girirajan S, Dagan O et al: Contribution of connexin26 (GJB2) mutations and founder effect to nonsyndromic hearing loss in India. J Med Genet 2003; 40: E68.
18. Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PS: Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario. Am J Med Genet 2003; 120: 180-184.
19. Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S: Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996; 24: 3439-3452.
20. Brunak S, Engelbrecht J, Knudsen S: Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol 1991; 220: 49-65.
21. Richard G, White TW, Smith LE et al: Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103: 393-399.
22. Nance WE, Kearsey MJ: Relevance of connexin deafness (DFNB1) to human evolution. Am J Hum Genet 2004; 74: 1081-1087.
23. Nance WE, Liu XZ, Pandya A: Relation between choice of partner and high frequency of connexin-26 deafness. Lancet 2000; 356: 500- 501.
24. Santos RL, Wajid M, Pham TL et al: Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet 2005; 67: 61-68.
25. Meyer CG, Amedofu GK, Brandner JM, Pohland D, Timmann C, Horstmann RD: Selection for deafness? Nat Med 2002; 8: 1332-1333.
26. Common JE, Di WL, Davies D, Kelsell DP: Further evidence for heterozygote advantage of GJB2 deafness mutations: A link with cell survival. J Med Genet 2004; 41: 573-575.
27. Cohn ES, Kelley PM, Fowler TW et al: Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999; 103: 546-550.
28. Elfgang C, Eckert R, Lichtenberg-Frate H et al: Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. J Cell Biol 1995; 129: 805-817.
29. Martin PE, Coleman SL, Casalotti SO, Forge A, Evans WH: Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness. Hum Mol Genet 1999; 8 2369-2376.
30. Thonnissen E, Rabionet R, Arbones ML, Estivill X, Willecke K, Ott T: Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet 2002; 111: 190-197.
31. Oshima A, Doi T, Mitsuoka K, Maeda S, Fujiyoshi Y: Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. J Biol Chem 2003; 278: 1807-1816.
32. PupkoAT, Bell RE, Mayrose I, Glaser F, Ben-Tal N: Rate4Site: an algorithmic tool for the identification of functional regions in proteins by surface mapping of evolutionary determinants within their homologues. Bioinformatics 2002; 18 (Suppl 1): S71-S77.