The human CX26-D50A and CX26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity

American Journal of Physiology - Cell Physiology

Volumn 304, Issue 12, 2013, Pages

  Mhaske, Pallavi V ^a   Levit, Noah A ^a   Li, Leping ^a   Wang, Hong Zhan ^a   Lee, Jack R ^a   Shuja, Zunaira ^a   Brink, Peter R ^a   White, Thomas W ^a  

^a STONY BROOK UNIVERSITY   (United States)

Author keywords

Channel; Connexin; Deafness; GJB2; Mutation; Skin disease

Indexed keywords

CONNEXIN 26;

ANIMAL CELL; ARTICLE; CELL DEATH; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; ICHTHYOSIS; KERATITIS; MEMBRANE CURRENT; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SYNDROME KID;

CHANNEL; CONNEXIN; DEAFNESS; GJB2; MUTATION; SKIN DISEASE;

ANIMALS; CONNEXINS; DEAFNESS; FEMALE; HELA CELLS; HUMANS; ICHTHYOSIS; KERATINOCYTES; KERATITIS; MUTATION; XENOPUS LAEVIS;

EID: 84879171256     PISSN: 03636143     EISSN: 15221563     Source Type: Journal    
DOI: 10.1152/ajpcell.00374.2012     Document Type: Article

References (51)

1. Barrio LC, Suchyna T, Bargiello T, Xu LX, Roginski RS, Bennett MV, Nicholson BJ. Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage. Proc Natl Acad Sci USA 88: 8410-8414, 1991.
2. Bruzzone R, Haefliger JA, Gimlich RL, Paul DL. Connexin40, a component of gap junctions in vascular endothelium, is restricted in its ability to interact with other connexins. Mol Biol Cell 4: 7-20, 1993.
3. Bruzzone R, White TW, Paul DL. Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 238: 1-27, 1996.
4. Chandrasekhar A, Bera AK. Hemichannels: permeants and their effect on development, physiology and death. Cell Biochem Funct 30: 89-100, 2012.
5. Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. PLos One 7: e32531, 2012.
6. Cushing SL, MacDonald L, Propst EJ, Sharma A, Stockley T, Blaser SL, James AL, Papsin BC. Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. Int J Pediatr Otorhinolaryngol 72: 693-698, 2008.
7. del Castillo FJ, del Castillo I. The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment. Front Biosci 16: 3252-3274, 2011.
8. DeVries SH, Schwartz EA. Hemi-gap-junction channels in solitary horizontal cells of the catfish retina. J Physiol 445: 201-230, 1992.
9. Donnelly S, English G, de Zwart-Storm EA, Lang S, van Steensel MA, Martin PE. Differential susceptibility of Cx26 mutations associated with epidermal dysplasias to peptidoglycan derived from Staphylococcus aureus and Staphylococcus epidermidis. Exp Dermatol 21: 592-598, 2012.
10. Duman D, Tekin M. Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci 17: 2213-2236, 2012.
11. Ebihara L, Steiner E. Properties of a nonjunctional current expressed from a rat connexin46 cDNA in Xenopus oocytes. J Gen Physiol 102: 59-74, 1993.
12. Essenfelder GM, Bruzzone R, Lamartine J, Charollais A, Blanchet-Bardon C, Barbe MT, Meda P, Waksman G. Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity. Hum Mol Genet 13: 1703-1714, 2004.
13. Gerido DA, DeRosa AM, Richard G, White TW. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol 293: C337-C345, 2007.
14. Gonzalez D, Gomez-Hernandez JM, Barrio LC. Species specificity of mammalian connexin-26 to form open voltage-gated hemichannels. FASEB J 20: 2329-2338, 2006.
15. Haruna K, Suga Y, Oizumi A, Mizuno Y, Endo H, Shimizu T, Hasegawa T, Ikeda S. Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. J Dermatol 37: 680-682, 2010.
16. Horton RM, Cai ZL, Ho SN, Pease LR. Gene splicing by overlap extension: tailor-made genes using the polymerase chain reaction. Biotechniques 8: 528-535, 1990.
17. Iossa S, Marciano E, Franze A. GJB2 gene mutations in syndromic skin diseases with sensorineural hearing loss. Curr Genomics 12: 475-785, 2011.
18. Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, Grati M, Couderc R, Denoyelle F, Bodemer C, Marlin S, Hadj-Rabia S. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet 51: 35-43, 2008.
19. Kar R, Batra N, Riquelme MA, Jiang JX. Biological role of connexin intercellular channels and hemichannels. Arch Biochem Biophys 524: 2-15, 2012.
20. Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol 36: 142-148, 2011.
21. Koval M. Drowning out communication. Focus on "The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity." Am J Physiol Cell Physiol (April 10, 2013). doi:10.1152/ajpcell.00087.2013.
22. Lee JR, Derosa AM, White TW. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol 129: 870-878, 2009.
23. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Exp Rev Mol Med 11: e35, 2009.
24. Levit NA, Mese G, Basaly MG, White TW. Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome. Biochim Biophys Acta 1818: 2014-2019, 2012.
25. Malchow RP, Qian H, Ripps H. Evidence for hemi-gap junctional channels in isolated horizontal cells of the skate retina. J Neurosci Res 35: 237-245, 1993.
26. Mauro TM, Pappone PA, Isseroff RR. Extracellular calcium affects the membrane currents of cultured human keratinocytes. J Cell Physiol 143: 13-20, 1990.
27. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol 156: 1015-1019, 2007.
28. Mese G, Londin E, Mui R, Brink PR, White TW. Altered gating properties of functional Cx26 mutants associated with recessive nonsyndromic hearing loss. Hum Genet 115: 191-199, 2004.
29. Mese G, Richard G, White TW. Gap junctions: basic structure and function. J Invest Dermatol 127: 2516-2524, 2007.
30. Mese G, Sellitto C, Li L, Wang HZ, Valiunas V, Richard G, Brink PR, White TW. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosisdeafness syndrome. Mol Biol Cell 22: 4776-4786, 2011.
31. Mese G, Valiunas V, Brink PR, White TW. Connexin26 deafness associated mutations show altered permeability to large cationic molecules. Am J Physiol Cell Physiol 295: C966-C974, 2008.
32. Montgomery JR, White TW, Martin BL, Turner ML, Holland SM. A novel connexin 26 gene mutation associated with features of the keratitisichthyosis-deafness syndrome and the follicular occlusion triad. J Am Acad Dermatol 51: 377-382, 2004.
33. Pfahnl A, Dahl G. Gating of cx46 gap junction hemichannels by calcium and voltage. Pflügers Arch 437: 345-353, 1999.
34. Pfenniger A, Wohlwend A, Kwak BR. Mutations in connexin genes and disease. Eur J Clin Invest 41: 103-116, 2011.
35. Richard G. Connexin disorders of the skin. Clin Dermatol 23: 23-32, 2005.
36. Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynanen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, Russell L. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 70: 1341-1348, 2002.
37. Ripps H, Qian H, Zakevicius J. Properties of connexin26 hemichannels expressed in Xenopus oocytes. Cell Mol Neurobiol 24: 647-665, 2004.
38. 2 permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J Gen Physiol 136: 47-62, 2010.
39. Sbidian E, Feldmann D, Bengoa J, Fraitag S, Abadie V, de Prost Y, Bodemer C, Hadj-Rabia S. Germline mosaicism in keratitis-ichthyosisdeafness syndrome: pre-natal diagnosis in a familial lethal form. Clin Genet 77: 587-592, 2010.
40. Scott CA, Kelsell DP. Key functions for gap junctions in skin and hearing. Biochem J 438: 245-254, 2011.
41. Skinner BA, Greist MC, Norins AL. The keratitis, ichthyosis, and deafness (KID) syndrome. Arch Dermatol 117: 285-289, 1981.
42. Stong BC, Chang Q, Ahmad S, Lin X. A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 116: 2205-2210, 2006.
43. Terrinoni A, Codispoti A, Serra V, Didona B, Bruno E, Nistico R, Giustizieri M, Alessandrini M, Campione E, Melino G. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. Biochem Biophys Res Commun 394: 909-914, 2010.
44. Turner DL, Weintraub H. Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate. Genes Dev 8: 1434-1447, 1994.
45. van Steensel MA, van Geel M, Nahuys M, Smitt JH, Steijlen PM. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J Invest Dermatol 118: 724-727, 2002.
46. White TW. Functional analysis of human Cx26 mutations associated with deafness. Brain Res Brain Res Rev 32: 181-183, 2000.
47. White TW, Bruzzone R, Goodenough DA, Paul DL. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell 3: 711-720, 1992.
48. White TW, Paul DL. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol 61: 283-310, 1999.
49. Wohlrab D, Wohlrab J, Markwardt F. Electrophysiological characterization of human keratinocytes using the patch-clamp technique. Exp Dermatol 9: 219-223, 2000.
50. Xu J, Nicholson BJ. The role of connexins in ear and skin physiologyfunctional insights from disease-associated mutations. Biochim Biophys Acta 1828: 167-178, 2013.
51. Zhao HB, Kikuchi T, Ngezahayo A, White TW. Gap junctions and cochlear homeostasis. J Membr Biol 209: 177-186, 2006.