Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants

Cell Communication and Adhesion

Volumn 12, Issue 5-6, 2005, Pages 279-292

  McLachlan, Elizabeth ^a   Manias, Janet L ^a   Gong, Xiang Qun ^a   Lounsbury, Crystal S ^a   Shao, Qing ^a   Bernier, Suzanne M ^a   Bai, Donglin ^a   Laird, Dale W ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Cell coupling; Conductance; Connexin43; Disease linked mutants; ODDD; Osteoblast

Indexed keywords

ALKALINE PHOSPHATASE; CONNEXIN 43; MUTANT PROTEIN;

ANIMAL CELL; ARTICLE; BONE DEVELOPMENT; BONE REMODELING; CELL COMMUNICATION; CELL DIFFERENTIATION; CELL DISRUPTION; CELL SURFACE; CONTROLLED STUDY; CULTURE MEDIUM; ENZYME ACTIVITY; FUNCTIONAL ASSESSMENT; GAP JUNCTION; HUMAN; HUMAN CELL; IN VITRO STUDY; MINERALIZATION; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; OCULODENTODIGITAL SYNDROME; OSTEOBLAST; PATCH CLAMP; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RAT; WILD TYPE;

ABNORMALITIES, MULTIPLE; ANIMALS; CELL COMMUNICATION; CELL DIFFERENTIATION; CELL MEMBRANE; CONNEXIN 43; CRANIOFACIAL ABNORMALITIES; GAP JUNCTIONS; HELA CELLS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MICE; MUTATION; OSTEOBLASTS; PATCH-CLAMP TECHNIQUES; RATS; TRANSFECTION;

ANIMALIA;

EID: 33644994420     PISSN: 10615385     EISSN: 15435180     Source Type: Journal    
DOI: 10.1080/15419060500514143     Document Type: Article

References (55)

1. Evans, W and Martin, P. (2002) Gap junctions: Structure and function Mol Membr Biol, 19, pp. 121 - 136. [PUBMED] [INFOTRIEVE] [CSA]
2. Das Sarma, J and Meyer, R and Wang, F and Abraham, V and Lo, C and Koval, M. (2001) Multimeric connexin interactions prior to the trans-Golgi network J Cell Sci, 114, pp. 4013 - 4024. [PUBMED] [INFOTRIEVE] [CSA]
3. Musil, L and Goodenough, D. (1993) Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER Cell, 74, pp. 1065 - 1077. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
4. Thomas, T and Jordan, K and Simek, J and Shao, Q and Jedeszko, C and Walton, P and Laird, D. (2005) Mechanisms of Cx43 and Cx26 transport to the plasma membrane and gap junction regeneration J Cell Sci, 118, pp. 4451 - 4462. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
5. Laird, D and Puranam, K and Revel, J. (1991) Turnover and phosphorylation dynamics of connexin43 gap junction protein in cultured cardiac myocytes Biochem J, 273(Pt 1), pp. 67 - 72. [PUBMED] [INFOTRIEVE] [CSA]
6. Jordan, K and Chodock, R and Hand, A and Laird, D. (2001) The origin of annular junctions: A mechanism of gap junction internalization J Cell Sci, 114, pp. 763 - 773. [PUBMED] [INFOTRIEVE] [CSA]
7. Laird, D. (2005) Connexin phosphorylation as a regulatory event linked to gap junction internalization and degradation Biochim Biophys Acta, 1711, pp. 172 - 182. [PUBMED] [INFOTRIEVE] [CSA]
8. Qin, H and Shao, Q and Thomas, T and Kalra, J and Alaoui-Jamali, M and Laird, D. (2003) Connexin26 regulates the expression of angiogenesis-related genes in human breast tumor cells by both GJIC-dependent and -independent mechanisms Cell Commun Adhes, 10, pp. 387 - 393. [PUBMED] [INFOTRIEVE] [CSA]
9. Abrams, C and Freidin, M and Verselis, V and Bennett, M and Bargiello, T. (2001) Functional alterations in gap junction channels formed by mutant forms of connexin 32: Evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease Brain Res, 900, pp. 9 - 25. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
10. Thomas, T and Telford, D and Laird, D. (2004) Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations J Biol Chem, 279, pp. 19157 - 19168. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
11. Yum, S and Kleopa, K and Shumas, S and Scherer, S. (2002) Diverse trafficking abnormalities of connexin32 mutants causing CMTX Neurobiol Dis, 11, pp. 43 - 52. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
12. Liang, G and de Miguel, M and Gomez-Hernandez, J and Glass, J and Scherer, S and Mintz, M and Barrio, L and Fischbeck, K. (2005) Severe neuropathy with leaky connexin32 hemichannels Ann Neurol, 57, pp. 749 - 754. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
13. Piazza, V and Beltramello, M and Menniti, M and Colao, E and Malatesta, P and Argento, R and Chiarella, G and Gallo, L and Catalano, M and Perrotti, N and Mammano, F and Cassandro, E. (2005) Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss Clin Genet, 68, pp. 161 - 166. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
14. Gladwin, A and Donnai, D and Metcalfe, K and Schrander-Stumpel, C and Brueton, L and Verloes, A and Aylsworth, A and Toriello, H and Winter, R and Dixon, M. (1997) Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24 Hum Mol Genet, 6, pp. 123 - 127. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
15. Paznekas, W and Boyadjiev, S and Shapiro, R and Daniels, O and Wollnik, B and Keegan, C and Innis, J and Dinulos, M and Christian, C and Hannibal, M and Jabs, E. (2003) Connexin43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia Am J Hum Genet, 72, pp. 408 - 418. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
16. Kjaer, K and Hansen, L and Eiberg, H and Leicht, P and Opitz, J and Tommerup, N. (2004) Novel Connexin43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair Am J Med Genet A, 127, pp. 152 - 157. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
17. Richardson, R and Donnai, D and Meire, F and Dixon, M. (2004) Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly J Med Genet, 41, pp. 60 - 67. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
18. van Steensel M. Spruijt L. van der Burgt I. Bladergroen R. Vermeer M. Steijlen P. van Geel M. 2005 A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma Am J Med Genet A, 132, pp. 171 - 174. [PUBMED] [INFOTRIEVE] [CSA]
19. Vasconcellos, J and Melo, M and Schimiti, R and Bressanim, N and Costa, F and Costa, V. (2005) A novel mutation in the GJA1 Gene in a family with oculodentodigital dysplasia Arch Ophthalmol, 123, pp. 1422 - 1426. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
20. Vitiello, C and D'Adamo, P and Gentile, F and Vingolo, E and Gasparini, P and Banfi, S. (2005) A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly Am J Med Genet A, 133, pp. 58 - 60. [PUBMED] [INFOTRIEVE] [CSA]
21. Loddenkemper, T and Grote, K and Evers, S and Oelerich, M and Stogbauer, F. (2002) Neurological manifestations of the oculodentodigital dysplasia syndrome J Neurol, 249, pp. 584 - 595. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
22. Flenniken, A and Osborne, L and Anderson, N and Ciliberti, N and Fleming, C and Gittens, J and Gong, X and Kelsey, L and Lounsbury, C and Moreno, L and Nieman, B and Peterson, K and Qu, D and Roscoe, W and Shao, Q and Tong, D and Veitch, G and Voronina, I and Vukobradovic, I and Wood, G and Zhu, Y and Zirngibl, R and Aubin, J and Bai, D and Bruneau, B and Grynpas, M and Henderson, J and Henkelman, R and McKerlie, C and Sled, J and Stanford, W and Laird, D and Kidder, G and Adamson, S and Rossant, J. (2005) A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia Development, 132, pp. 4375 - 4386. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
23. Roscoe, W and Veitch, G and Gong, X and Pellegrino, E and Bai, D and McLachlan, E and Shao, Q and Kidder, G and Laird, D. (2005) Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43 J Biol Chem, 280, pp. 11458 - 11466. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
24. Seki, A and Coombs, W and Taffet, S and Delmar, M. (2004) Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43 Heart Rhythm, 1, pp. 227 - 233. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
25. Shibayama, J and Paznekas, W and Seki, A and Taffet, S and Jabs, E and Delmar, M and Musa, H. (2005) Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia Circ Res, 96, pp. e83 - e91. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
26. Laird, D and Castillo, M and Kasprzak, L. (1995) Gap junction turnover, intracellular trafficking, and phosphorylation of connexin43 in brefeldin A-treated rat mammary tumor cells J Cell Biol, 131, pp. 1193 - 1203. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
27. Galipeau, J and Li, H and Paquin, A and Sicilia, F and Karpati, G and Nalbantoglu, J. (1999) Vesicular stomatitis virus G pseudotyped retrovector mediates effective in vivo suicide gene delivery in experimental brain cancer Cancer Res, 59, pp. 2384 - 2394. [PUBMED] [INFOTRIEVE] [CSA]
28. Qin, H and Shao, Q and Curtis, H and Galipeau, J and Belliveau, D and Wang, T and Alaoui-Jamali, M and Laird, D. (2002) Retroviral delivery of connexin genes to human breast tumor cells inhibits in vivo tumor growth by a mechanism that is independent of significant gap junctional intercellular communication J Biol Chem, 277, pp. 29132 - 29138. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
29. Ory, D and Neugeboren, B and Mulligan, R. (1996) A stable human-derived packaging cell line for production of high titer retrovirus/vesicular stomatitis virus G pseudotypes Proc Natl Acad Sci USA, 93, pp. 11400 - 11406. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
30. Mao, A and Bechberger, J and Lidington, D and Galipeau, J and Laird, D and Naus, C. (2000) Neuronal differentiation and growth control of neuro-2a cells after retroviral gene delivery of connexin43 J Biol Chem, 275, pp. 34407 - 34414. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
31. Chung, C and Iida-Klein, A and Wyatt, L and Rudkin, G and Ishida, K and Yamaguchi, D and Miller, T. (1999) Serial passage of MC3T3-E1 cells alters osteoblastic function and responsiveness to transforming growth factor-beta1 and bone morphogenetic protein-2 Biochem Biophys Res Commun, 265, pp. 246 - 251. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
32. Bonnelye, E and Merdad, L and Kung, V and Aubin, J. (2001) The orphan nuclear estrogen receptor-related receptor alpha (ERRalpha) is expressed throughout osteoblast differentiation and regulates bone formation in vitro J Cell Biol, 153, pp. 971 - 984. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
33. Bukauskas, F and Jordan, K and Bukauskiene, A and Bennett, M and Lampe, P and Laird, D and Verselis, V. (2000) Clustering of connexin 43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells Proc Natl Acad Sci USA, 97, pp. 2556 - 2561. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
34. Gorlin, R and Cohen, M and Hennekam, R.(2001) Oculodentoosseous dysplasia (oculodentodigital syndrome. In Syndromes of the head and neck 4 ed. New York: Oxford University Press.
35. Sugar, H and Thompson, J and Davis, J. (1966) The oculo-dento-digital dysplasia syndrome Am J Ophthalmol, 61, pp. 1448 - 1451. [PUBMED] [INFOTRIEVE] [CSA]
36. Reaume, A and de Sousa, P and Kulkarni, S and Langille, B and Zhu, D and Davies, T and Juneja, S and Kidder, G and Rossant, J. (1995) Cardiac malformation in neonatal mice lacking connexin43 Science, 267, pp. 1831 - 1834. [PUBMED] [INFOTRIEVE] [CSA]
37. Sosinsky, G and Nicholson, B. (2005) Structural organization of gap junction channels Biochim Biophys Acta, 1711, pp. 99 - 125. [PUBMED] [INFOTRIEVE] [CSA]
38. Skerrett, I and Aronowitz, J and Shin, J and Cymes, G and Kasperek, E and Cao, F and Nicholson, B. (2002) Identification of amino acid residues lining the pore of a gap junction channel J Cell Biol, 159, pp. 349 - 360. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
39. Makowski, L and Caspar, D and Phillips, W and Goodenough, D. (1977) Gap junction structures. II. Analysis of the x-ray diffraction data J Cell Biol, 74, pp. 629 - 645. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
40. Civitelli, R and Beyer, E and Warlow, P and Robertson, A and Geist, S and Steinberg, T. (1993) Connexin43 mediates direct intercellular communication in human osteoblastic cell networks J Clin Invest, 91, pp. 1888 - 1896. [PUBMED] [INFOTRIEVE] [CSA]
41. Jones, S and Gray, C and Sakamaki, H and Arora, M and Boyde, A and Gourdie, R and Green, C. (1993) The incidence and size of gap junctions between the bone cells in rat calvaria Anat Embryol (Berl), 187, pp. 343 - 352. [CSA]
42. Schirrmacher, K and Schmitz, I and Winterhager, E and Traub, O and Brummer, F and Jones, D and Bingmann, D. (1992) Characterization of gap junctions between osteoblast-like cells in culture Calcif Tissue Int, 51, pp. 285 - 290. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
43. Steinberg, T and Civitelli, R and Geist, S and Robertson, A and Hick, E and Veenstra, R and Wang, H and Warlow, P and Westphale, E and Laing, J and (1994) Connexin43 and connexin45 form gap junctions with different molecular permeabilities in osteoblastic cells Embo J, 13, pp. 744 - 750. [PUBMED] [INFOTRIEVE] [CSA]
44. Yamaguchi, D and Ma, D and Lee, A and Huang, J and Gruber, H. (1994) Isolation and characterization of gap junctions in the osteoblastic MC3T3-E1 cell line J Bone Miner Res, 9, pp. 791 - 803. [PUBMED] [INFOTRIEVE] [CSA]
45. Kato, Y and Windle, J and Koop, B and Mundy, G and Bonewald, L. (1997) Establishment of an osteocyte-like cell line, MLO-Y4 J Bone Miner Res, 12, pp. 2014 - 2023. [PUBMED] [INFOTRIEVE] [CSA]
46. Mason, D and Hillam, R and Skerry, T. (1996) Constitutive in vivo mRNA expression by osteocytes of beta-actin, osteocalcin, connexin-43, IGF-I, c-fos and c-jun, but not TNF-alpha nor tartrate-resistant acid phosphatase J Bone Miner Res, 11, pp. 350 - 357. [PUBMED] [INFOTRIEVE] [CSA]
47. Ilvesaro, J and Vaananen, K and Tuukkanen, J. (2000) Bone-resorbing osteoclasts contain gap-junctional connexin-43 J Bone Miner Res, 15, pp. 919 - 926. [PUBMED] [INFOTRIEVE] [CSA]
48. Ransjo, M and Sahli, J and Lie, A. (2003) Expression of connexin 43 mRNA in microisolated murine osteoclasts and regulation of bone resorption in vitro by gap junction inhibitors Biochem Biophys Res Commun, 303, pp. 1179 - 1185. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
49. Jorgensen, N and Geist, S and Civitelli, R and Steinberg, T. (1997) ATP- and gap junction-dependent intercellular calcium signaling in osteoblastic cells J Cell Biol, 139, pp. 497 - 506. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
50. Jorgensen, N and Teilmann, S and Henriksen, Z and Civitelli, R and Sorensen, O and Steinberg, T. (2003) Activation of L-type calcium channels is required for gap junction-mediated intercellular calcium signaling in osteoblastic cells J Biol Chem, 278, pp. 4082 - 4086. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
51. Lecanda, F and Warlow, P and Sheikh, S and Furlan, F and Steinberg, T and Civitelli, R. (2000) Connexin43 deficiency causes delayed ossification, craniofacial abnormalities, and osteoblast dysfunction J Cell Biol, 151, pp. 931 - 944. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
52. Furlan, F and Lecanda, F and Screen, J and Civitelli, R. (2001) Proliferation, differentiation and apoptosis in connexin43-null osteoblasts Cell Commun Adhes, 8, pp. 367 - 371. [PUBMED] [INFOTRIEVE] [CSA]
53. Lecanda, F and Towler, D and Ziambaras, K and Cheng, S and Koval, M and Steinberg, T and Civitelli, R. (1998) Gap junctional communication modulates gene expression in osteoblastic cells Mol Biol Cell, 9, pp. 2249 - 2258. [PUBMED] [INFOTRIEVE] [CSA]
54. Upham, B and Suzuki, J and Chen, G and Wang, Y and McCabe, L and Chang, C and Krutovskikh, V and Yamasaki, H and Trosko, J. (2003) Reduced gap junctional intercellular communication and altered biological effects in mouse osteoblast and rat liver oval cell lines transfected with dominant-negative connexin 43 Mol Carcinog, 37, pp. 192 - 201. [PUBMED] [INFOTRIEVE] [CSA] [CROSSREF]
55. Castro, C and Stains, J and Sheikh, S and Szejnfeld, V and Willecke, K and Theis, M and Civitelli, R. (2003) Development of mice with osteoblast-specific connexin43 gene deletion Cell Commun Adhes, 10, pp. 445 - 450. [PUBMED] [INFOTRIEVE] [CSA]