Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expresion

Human Genetics

Volumn 111, Issue 2, 2002, Pages 190-197

  Thönnissen, Eva ^a   Rabionet, Raquel ^b,c   Arbonès, Maria Lourdes ^b,c   Estivill, Xavier ^b,c   Willecke, Klaus ^a   Ott, Thomas ^a  

^a UNIVERSITY OF BONN   (Germany)

^b HOSPITAL DURAN I REYNALS   (Spain)

^c CENTRE FOR GENOMIC REGULATION CRG   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CONNEXIN 26; PROTEIN; RNA; TRACER;

ARTICLE; CELL COMMUNICATION; CELL JUNCTION; CHANNEL GATING; DNA TRANSCRIPTION; EXPERIMENTAL TEST; GENE LOCATION; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC TRANSFECTION; HEARING IMPAIRMENT; HELA CELL; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INTERCELLULAR SPACE; MICROINJECTION; OLIGOMERIZATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RNA TRANSLATION;

BIOTIN; BLOTTING, NORTHERN; BLOTTING, WESTERN; CELL MEMBRANE; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FLUORESCENT ANTIBODY TECHNIQUE; GAP JUNCTIONS; HELA CELLS; HUMANS; ION CHANNELS; MUTATION; PLASMIDS; TRANSFECTION;

MAMMALIA;

EID: 0036705666     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0750-2     Document Type: Article

References (35)

1. Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Willcox S, Cohn ES, Van Camp G, Smith RJ (2000) The M34T allele variant of connexin 26. Genet Test 4:335-344
2. Den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
3. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dode C, Marlin S, Boulila-El Gaied A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Petit C, et al. (1997) Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 6:2173-2177
4. Denoyelle F, Martin S, Weil D, Moatti L, Chauvin P, Garabedian EN, Petit C (1999) Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: Implications for genetic counselling. Lancet 353:1298-1303
5. Elfgang C, Eckert R, Lichtenberg-Frate H, Butterweck A, Traub O, Klein RA, Hulser DF, Willecke K (1995) Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. J Cell Biol 129:805-817
6. Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Mila M, Zelante L, Gasparini P (1998) Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet 351:394-398
7. Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K, Metspalu A, Oitmaa E, Pisano M, Fortina P, Zelante L, Estivill X (2000) High carrier frequency of the 35delG deagness mutation in European populations. Eur J Hum Genet 8:19-23
8. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R, Arbones M, Monica MD, Estivill X, Zelante L, Lang F, Gasparini P (1999) Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 23:16-18
9. Griffith AJ, Chowdhry AA, Kurima K, Hood LJ, Keats B, Berlin CI, Morell RJ, Friedman TB (2000) Autosomal recessive non-syndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (Connexin 26) genotype M34T/167delT. Am J Hum Genet 67:745-749
10. Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP (2001) Genetic analysis of the connexin-26 M34T variant: Identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hering loss. J Med Genet 38:20-25
11. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387:80-83
12. Kikuchi T, Adams JC, Paul DL, Kimura RS (1994) Gap junction systems in the rat vestibular labyrinth: Immunohistochemical and ultrastructural analysis. Acta Otolaryngol 114:520-528
13. Kikuchi T, Kimura RS, Paul DL, Adams JC (1995) Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis. Anat Embryol (Berlin) 191:101-118
14. Kikuchi T, Kimura RS, Paul DL, Takasaka T, Adams JC (2000) Gap Junction systems in the mammalian cochlea. Brain Res Rev 32:163-166
15. Kumar NM, Gilula NB (1996) The gap junction communication channel. Cell 84:381-388
16. Lauterman J, Ten Cate WJ, Altenhoff P, Grummer R, Traub O, Frank H, Jahnke K, Winterhager E (1998) Expression of gap-junction connexins 26 and 30 in the rat cochlea. Cell Tissue Res 294:415-420
17. Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE (2000) Mutations in connexin 31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 9:63-67
18. Manthey D, Willecke K. (2001) Connexin methods and protocols. In: Bruzzone R, Giaume C (eds) Methods and Molecular Biology. Humana, Totowa, New Jersey, pp 187-199
19. Manthey D, Banach K, Desplantez T, Lee CG, Kozak CA, Traub O, Weingart R, Willecke K (2001). Intracellular domains of the mouse connexin 26 and-30 proteins affect dye transfer and electrical conductance of gap junction channels. J Membr Biol 181:137-148
20. Marlin S, Garabedian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F (2001) Connexin 26 gene mutation in congenitally deaf children. Arch Otolaryngol Head Neck Surg 127:927-933
21. Martin PE, Coleman SL, Casolotti SO, Forge A, Evans WH (1999) Properties of connexin 26 gap junctional proteins derived from mutations associated with non-syndromal hereditary deafness. Hum Mol Genet 8:2369-2376
22. Martin PE, Blundell G, Ahmad S, Errington RJ, Evans WH (2001) Multiple pathways in the trafficking and assembly of connexin 26, 32 and 43 into gap junction intercellular communication channels. J Cell Sci 114:3845-3855
23. Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F (1999) Cx26 deafness: Mutation analysis and clinical variability. J Med Genet 36:829-832
24. Nicholson BJ, Weber PA, Cao F, Chang H, Lampe P, Goldberg G (2000) The molecular basis of selective permeability of connexins is complex and includes both size and charge. Braz J Med Biol Res 33:369-378
25. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
26. Rabionet R, Gasparini P, Estivill X (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Hum Mutat 16:190-202
27. Scott DA, Kraft ML, Stone EM, Sheffield VC, Smith RJ (1998) Connexin mutations and hearing loss. Nature 391:32
28. Simon AM, Goodenough DA (1998) Diverse functions of vertebrate gap junctions. Trends Cell Biol 8:477-483
29. Steel KP, Kros CJ (2001) A genetic approach to understanding auditory function. Nat Genet 27:143-149
30. Suchyna TM, Xu LX, Gao F, Fourtner CR, Nicholson BJ (1993) Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature 365:847-849
31. White TW (2000) Functional analysis of human Cx26 mutations associated with deafness. Brain Res Rev 32:181-183
32. White TW, Deans MR, Kelsell DP, Paul DL (1998) Connexin mutation in deafness. Nature 394:630-631
33. Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Güldenagel M, Deutsch U, Söhl G (2002) Structural and functional diversity of connexin genes in the human and mouse genome. Biol Chem 383:725-737
34. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ (1998) Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment. Nat Genet 20:370-373
35. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M, Monica MD, Lufti J, Shohat M, Mansfield E, Delgrosso K, Rappaport E, Surrey S, Fortina P (1997) Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 6:1605-1609