Some Oculodentodigital Dysplasia-Associated Cx43 Mutations Cause Increased Hemichannel Activity in Addition to Deficient Gap Junction Channels

The Journal of Membrane Biology - Tập 219 Số 1-3 - Trang 9-17 - 2007
Radoslaw Dobrowolski1, Annette Sommershof2,1, Klaus Willecke1
1Institute of Genetics, University of Bonn, Bonn, Germany
2Department of Biology/Immunology, University of Konstanz, Konstanz, Germany

Tóm tắt

Từ khóa


Tài liệu tham khảo

Attal J, Theron MC, Houdebine LM (1999) The optimal use of IRES (internal ribosome entry site) in expression vectors. Genet Anal 15:161–165

Bao X, Chen Y, Reuss L, Altenberg GA (2004) Functional expression in Xenopus oocytes of gap-junctional hemichannels formed by a cysteine-less connexin 43. J Biol Chem 279:9689–9692

Bao X, Lee SC, Reuss L, Altenberg GA (2007) Change in permeant size selectivity by phosphorylation of connexin 43 gap-junctional hemichannels by PKC. Proc Natl Acad Sci USA 104:4919–4924

Bennett MVL, Verselis VK (1992) Biophysics of gap junctions. Semin Cell Biol 3:29–47

Bruzzone S, Guida L, Zocchi E, Franco L, De Flora A (2001) Connexin 43 hemichannels mediate Ca2+-regulated transmembrane NAD+ fluxes in intact cells. FASEB J 15:10–12

Dahl G, Werner R, Levine E, Rabadan-Diehl C (1992) Mutational analysis of gap junction formation. Biophys J 62:172–180

De Vuyst E, Decrock E, De Bock M, Yamasaki H, Naus CC, Evans WH, Leybaert L (2007) Connexin hemichannels and gap junction channels are differentially influenced by lipopolysaccharide and basic fibroblast growth factor. Mol Biol Cell 18:34–46

Duffy HS, Sorgen PL, Girvin ME, O’Donnell P, Coombs W, Taffet SM, Delmar M, Spray DC (2002) pH-dependent intramolecular binding and structure involving Cx43 cytoplasmic domains. J Biol Chem 277:36706–36714

Evans WH, De Vuyst E, Leybaert L (2006) The gap junction cellular internet: connexin hemichannels enter the signalling limelight. Biochem J 397:1–14

Fleishman SJ, Unger VM, Yeager M, Ben-Tal N (2004) A Calpha model for the transmembrane alpha helices of gap junction intercellular channels. Mol Cell 15:879–888

Foote CI, Zhou L, Zhu X, Nicholson BJ (1998) The pattern of disulfide linkages in the extracellular loop regions of connexin 32 suggests a model for the docking interface of gap junctions. J Cell Biol 140:1187–1197

Gerido DA, Derosa AM, Richard G, White TW (2007) Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol 293:337–345

Hanemann CO, Bergmann C, Senderek J, Zerres K, Sperfeld AD (2003) Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol 60:605–609

Hertlein B, Butterweck A, Haubrich S, Willecke K, Traub O (1998) Phosphorylated carboxy terminal serine residues stabilize the mouse gap junction protein connexin45 against degradation. J Membr Biol 162:247–257

Hu X, Ma M, Dahl G (2006) Conductance of connexin hemichannels segregates with the first transmembrane segment. Biophys J 90:140–150

Lai A, Le D-N, Paznekas WA, Gifford WD, Wang Jabs E, Charles AC (2006) Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. J Cell Sci 119: 532–541

Laird DW, Castillo M, Kasprzak L (1995) Gap junction turnover, intracellular trafficking, and phosphorylation of connexin43 in brefeldin A-treated rat mammary tumor cells. J Cell Biol 131:1193–1203

Lampe PD, Cooper CD, King TJ, Burt JM (2006) Analysis of connexin43 phosphorylated at S325, S328 and S330 in normoxic and ischemic heart. J Cell Sci 119:3435–3442

Lin Liang SG, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH (2005) Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol 57:749–754

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

Oh SY, Dupont E, Madhukar BV, Briand JP, Chang CC, Beyer E, Trosko JE (1993) Characterization of gap junctional communication-deficient mutants of a rat liver epithalial cell line. Eur J Cell Biol 60:250–255

Paznekas WA, Boyadjiev SA, Shapiro RE, et al. (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72:408–418

Saez JC, Retamal MA, Basilio D, Bukauskas FF, Bennett MV (2005) Connexin-based gap junction hemichannels: gating mechanisms. Biochim Biophys Acta 1711:215–224

Soehl G, Willecke K (2003) An update on connexin genes and their nomenclature in mouse and man. Cell Commun Adhes 10:173–180

Spray DC, Ye ZC, Ransom BR (2006) Functional connexin “hemichannels”: a critical appraisal. Glia 547:758–773

Stong BC, Chang Q, Ahmad S, Lin X (2006) A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 116:2205–2210

Stout CE, Costantin JL, Naus CCG, Charles AC (2002) Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels. J Biol Chem 12:10482–10488

Wilgenbus KK, Kirkpatrick CJ, Knuechel R, Willecke K, Traub O (1992) Expression of Cx26, Cx32 and Cx43 gap junction proteins in normal and neoplastic human tissues. Int J Cancer 51:522–529

Yotsumoto S, Hashiguchi T, Chen X, Ohtake N, Tomitaka A, Akamatsu H, Matsunaga K, Shiraishi S, Miura H, Adachi J, Kanzaki T (2003) Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. Br J Dermatol 148:649–653