Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells

Acta Biochimica et Biophysica Sinica

Volumn 37, Issue 8, 2005, Pages 547-554

  He, Li Qiang ^a,b   Liu, Yu ^a   Cai, Fang ^a   Tan, Zhi Ping ^a   Pan, Qian ^a   Liang, De Sheng ^a   Long, Zhi Gao ^a   Wu, Ling Qian ^a   Huang, Liang Qun ^a   Dai, He Ping ^a   Xia, Kun ^a   Xia, Jia Hui ^a   Zhang, Zhuo Hua ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Connexin 31; Erythrokeratodermia variabilis; Gap junctional intercellular communication (GJIC); Hearing impairment; Peripheral neuropathy

Indexed keywords

GAP JUNCTION PROTEIN; GJB3 PROTEIN, HUMAN; RECOMBINANT PROTEIN;

APOPTOSIS; ARTICLE; CELL FRACTIONATION; CELL JUNCTION; ERYTHEMA; GENETICS; HEARING DISORDER; HELA CELL; HUMAN; KERATOSIS; METABOLISM; MUTATION; PERIPHERAL NEUROPATHY; PROTEIN TRANSPORT;

APOPTOSIS; CONNEXINS; ERYTHEMA; GAP JUNCTIONS; HEARING DISORDERS; HELA CELLS; HUMANS; KERATOSIS; MUTATION; PERIPHERAL NERVOUS SYSTEM DISEASES; PROTEIN TRANSPORT; RECOMBINANT PROTEINS; SUBCELLULAR FRACTIONS;

EID: 27744547477     PISSN: 16729145     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1745-7270.2005.00080.x     Document Type: Article

References (42)

1. Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, Deutsch U et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 2002, 383: 725-737
2. Elfgang C, Eckert R, Lichtenberg-Frate H, Butterweck A, Traub O, Klein RA, Hulser DF et al. Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. J Cell Biol 1995, 129: 805-817
3. Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K et al. Connexin mutations in X-linked Charcot-Marie-tooth disease. Science 1993, 262: 2039-2042
4. Wang HL, Chang WT, Yeh TH, Wu T, Chen MS, Wu CY. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie tooth disease. Neurobiol Dis 2004, 15: 361-370
5. Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH et al. Prelingual deafness: High prevalence of a 30delG mutation in the connexin26 gene. Hum Mol Genet 1997, 6: 2173-2177
6. Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF et al. Connexin26 mutations in hereditary nonsyndromic sensorineural deafness. Nature 1997, 387: 80-83
7. Zelante L, Gasparini P, Estivill X, Melchionda S, D'Agruma L, Govea N, Mila M 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
8. Grifa A, Wagner CA, D'Ambrosio L, Melchionda S, Bernardi F, Lopez-Bigas N, Rabionet R et al. Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. Nat Genet 1999, 23: 16-18
9. Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000, 26: 142-144
10. Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002, 118: 530-532
11. Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: Identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004, 122: 1108-1113
12. Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 1999, 64: 1357-1364
13. Pal JD, Liu X, Mackay D, Shiels A, Berthoud VM, Beyer EC, Ebihara L. Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. Am J Physiol Cell Physiol 2000, 279: C596-C560
14. Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, Kong X et al. A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Mol Vis 2003, 9: 579-583
15. Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL et al. A novel mutation in the connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. J Med Genet 2004, 41: e106
16. Bennett TM, Mackay DS, Knopf HL, Shiels A. A novel missense mutation in the gene for gap-junction protein α3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Mol Vis 2004, 10: 376-382
17. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998, 62: 526-532
18. Berry V, Mackay D, Khaliq S, Francis PJ, Hameed A, Anwar K, Mehdi SQ et al. Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet 1999, 105: 168-170
19. Polyakov AV, Shagina IA, Khlebnikova OV, Evgrafov OV. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet 2001, 60: 476-478
20. Willoughby CE, Arab S, Gandhi R, Zeinali S, Arab S, Luk D, Billingsley G et al. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet 2003, 40: e124
21. Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet 1998, 20: 366-336
22. Richard G. Connexins: A connection with the skin. Exp Dermatol 2000, 9: 77-96
23. Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N et al. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet 2002, 11: 1311-1316
24. Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet 1998, 20: 370-373
25. Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet 2000, 9: 63-67
26. Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet 2001, 10: 947-952
27. Diestel S, Richard G, Doring B, Traub O. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem Biophys Res Commun 2002, 296: 721-728
28. Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL et al. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet 2002, 11: 2005-2014
29. Deschenes SM, Walcott JL, Wexler TL, Scherer SS, Fischbeck KH. Altered trafficking of mutant connexin32. J Neurosci 1997, 17: 9077-9084
30. Common JE, Becker D, Di WL, Leigh IM, O'Toole EA, Kelsell DP. Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem Biophys Res Commun 2002, 298: 651-656
31. Evans WH, Martin PE. Gap junctions: Structure and function. Mol Membr Biol 2002, 19: 121-236
32. Musil LS, Goodenough DA. Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER. Cell 1993, 74: 1065-1077
33. Kim PS, Arvan P. Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones. Endocr Rev 1998, 19: 173-202
34. Aridor M, Balch WE. Integration of endoplasmic reticulum signaling in health and disease. Nat Med 1999, 5: 745-751
35. Li X, Olson C, Lu S, Nagy JI. Association of connexin36 with zonula occludens-1 in HeLa cells, βTC-3 cells, pancreas, and adrenal gland. Histochem Cell Biol 2004, 122: 485-498
36. Bader P, Weingart R. Conductive and kinetic properties of connexin45 hemichannels expressed in transfected HeLa cells. J Membr Biol 2004, 199: 143-154
37. Diestel S, Eckert R, Hulser D, Traub O. Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells. Exp Cell Res 2004, 294: 446-457
38. Lin GC, Rurangirwa JK, Koval M, Steinberg TH. Gap junctional communication modulates agonist-induced calcium oscillations in transfected HeLa cells. J Cell Sci 2004, 117: 881-887
39. Thomas T, Aasen T, Hodgins M, Laird DW. Transport and function of cx26 mutants involved in skin and deafness disorders. Cell Commun Adhes 2003, 10: 353-358
40. Hunter AW, Jourdan J, Gourdie RG. Fusion of GFP to the carboxyl terminus of connexin43 increases gap junction size in HeLa cells. Cell Commun Adhes 2003, 10: 211-214
41. Sosinsky GE, Gaietta GM, Hand G, Deerinck TJ, Han A, Mackey M, Adams SR et al. Tetracysteine genetic tags complexed with biarsenical ligands as a tool for investigating gap junction structure and dynamics. Cell Commun Adhes 2003, 10: 181-186
42. Sakai R, Elfgang C, Vogel R, Willecke K, Weingart R. The electrical behaviour of rat connexin46 gap junction channels expressed in transfected HeLa cells. Pflugers Arch 2003, 446: 714-727