Transport and function of Cx26 mutants involved in skin and deafness disorders

Cell Communication and Adhesion

Volumn 10, Issue 4-6, 2003, Pages 353-358

  Thomas, Tamsin ^a   Aasen, Trond ^b   Hodgins, Malcolm ^b   Laird, Dale W ^a  

^a UNIVERSITY OF WESTERN ONTARIO   (Canada)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

Cx26; Deafness; Mutations; Skin disease

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 32; CONNEXIN 37; CONNEXIN 43; FLUORESCENT DYE; GREEN FLUORESCENT PROTEIN; LUCIFER YELLOW; MUTANT PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL COMMUNICATION; CELL CONTACT; CELL DIFFERENTIATION; CELL FUNCTION; CELL MEMBRANE PERMEABILITY; CELL SURFACE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EPIDERMIS CELL; FLUORESCENCE ANALYSIS; GAP JUNCTION; GENE LOSS; HEARING IMPAIRMENT; HELA CELL; HUMAN; HUMAN CELL; KERATINOCYTE; PERCEPTION DEAFNESS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; PROTEIN TRANSPORT; SKIN DISEASE;

EID: 0346496110     PISSN: 15419061     EISSN: None     Source Type: Journal    
DOI: 10.1080/714040452     Document Type: Article

References (17)

1. Goodenough DA, Goliger JA, Paul DL (1996). Connexins, connexons, and intercellular communication. Ann Rev Biochem 65: 475-502.
2. Willecke K, Eiberger J, Degen J, Eckardt D, Romualdi A, Guldenagel M, Deutsch U, Sohl G (2002). Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem 383: 725-737.
3. Di WL, Rugg EL, Leigh IM, Kelsell DP (2001). Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J Invest Dermatol 117: 958-964.
4. Goliger JA, Paul DL (1994). Expression of gap junction proteins Cx26, Cx31.1, Cx37, and Cx43 in developing and mature rat epidermis. Devel Dyn 200: 1-13.
5. Kelsell DP, Di WL, Houseman MJ (2001). Connexin mutations in skin disease and hearing loss. Am J Hum Genet 68: 559-568.
6. Richard G (2001). Human connexin disorders of the skin. Cell Adhes Commun 8: 401-407.
7. Rouan F, White TW, Brown N, Taylor AM, Lucke TW, Paul DL, Munro CS, Uitto J, Hodgins MB, Richard G (2001). Transdominant inhibition of connexin-43 by mutant connexin-26: Implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci 114: 2105-2113.
8. Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ (1998). Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103: 393-399.
9. Heathcote K, Syrris P, Carter ND, Patton MA (2000). A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis. J Med Genet 37: 50-51.
10. Maestrini E, Korge BP, Ocana-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS (1999). A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Molec Genet 8: 1237-1243.
11. Richard G, Rouan F, Willoughby CE, Brown N, et al. (2002). Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet 70: 1341-1348.
12. Baden HP, Kubilus J (1983). The growth and differentiation of cultured newborn rat keratinocytes. J Invest Dermatol 80: 124-130.
13. 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.
14. Sambrook J, Fritsch EF, Maniatis T (1989). Detection and analysis of proteins expressed from cloned genes. In: Molecular Cloning: A Laboratory Manual, pp. 18-32. Cold Spring Harbor Laboratory Press, Cold Spring, Harbor, NY.
15. Oshima A, Doi T, Mitsuoka K, Maeda S, Fujiyoshi Y (2003). Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin26. Implication for key amino acid residues for channel formation and function. J Biol Chem 278: 1807-1816.
16. Marziano NK, Casalotti SO, Portelli AE, Becker DL, Forge A (2003). Mutations in the gene for connexin26 (GJB2) that cause hearing loss have a dominant negative effect on connexin30. Hum Molec Genet 12: 805-812.
17. Bukauskas FF, Jordan K, Bukauskiene A, Bennett MV, Lampe PD, Laird DW, Verselis VK (2000). Clustering of connexin 43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells. Proc Nat Acad Sci USA 97: 2556-2561.