Molecular mechanism underlying a Cx50-linked congenital cataract

American Journal of Physiology - Cell Physiology

Volumn 276, Issue 6 45-6, 1999, Pages

  Pal, J D ^a,d   Berthoud, V M ^b   Beyer, E G ^b   Mackay, D ^c   Shiels, A ^c   Ebihara, L ^a  

^a ROSALIND FRANKLIN UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d The Chicago Medical College   (United States)

Author keywords

Connexin 50; Dominant negative inhibition; Gap junction; P88S

Indexed keywords

CONNEXIN 50; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CHANNEL GATING; CONGENITAL CATARACT; GAP JUNCTION; MISSENSE MUTATION; NONHUMAN; OOCYTE; PRIORITY JOURNAL; XENOPUS;

EID: 0033000913     PISSN: 03636143     EISSN: None     Source Type: Journal    
DOI: 10.1152/ajpcell.1999.276.6.c1443     Document Type: Article

References (11)

1. Barrio, L. C., T. Suchyna, T. Bargiello, L. X. Xu, R. S. Roginski, M. V. Bennett, and B. J. Nicholson. 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 . [Corrigenda. Proc. Natl. Acad. Sci. USA 89: May 1992, p. 4220.]
2. Barrio, L. C., T. Suchyna, T. Bargiello, L. X. Xu, R. S. Roginski, M. V. Bennett, and B. J. Nicholson. 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 . [Corrigenda. Proc. Natl. Acad. Sci. USA 89: May 1992, p. 4220.]
3. Britz-Cunningham, S. H., M. M. Shah, C. W. Zuppan, and W. H. Fletcher. Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N. Engl. J. Med. 332:1323-1329, 1995.
4. Ebihara, L., V. M. Berthoud, and E. C. Beyer. Distinct behavior of connexin56 and connexin46 gap junctional channels can be predicted from the behavior of their hemi-gap-junctional channels. Biophys. J. 68:1796-1803, 1995.
5. Ebihara, L., and E. Steiner. Properties of a nonjunctional current expressed from a rat connexin46 cDNA in Xenopus oocytes. J. Gen. Physiol. 102:59-74, 1993.
6. Gong, X., E. Li, G. Klier, Q. Huang, Y. Wu, H. Lei, N. M. Kumar, J. Horwitz, and N. B. Gilula. Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 91; 833-843, 1997.
7. Goodenough, D. A. The crystalline lens. A system networked by gap junctional intercellular communication. Semin. Cell Biol. 3: 49-58, 1992.
8. Gupta, V. K., V. M. Berthoud, N. Atal, J. A. Jarillo, L. C. Barrio, and E. C. Beyer. Bovine connexin44, a lens gap junction protein: molecular cloning, immunologic characterization, and functional expression. Invest. Ophthalmol. Vis. Sci. 35: 3747-3758, 1994.
9. Hejtmancik, J. F. The genetics of cataract: our vision becomes clearer. Am. J. Hum. Genet. 62: 520-525, 1998.
10. Janssen, E. A., S. Kemp, G. W. Hensels, O. G. Sie, C. E. de Die-Smulders, J. E. Hoogendijk, M. de Visser, and P. A. Bolhuis. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tboth disease (CMTX1). Hum. Genet. 99: 501-505, 1997.
11. Keisell, D. P., J. Dunlop, H. P. Stevens, N. J. Lench, J. N. Liang, G. Parry, R. F. Mueller, and I. M. Leigh. Connexin26 mutations in hereditary non-syndromic sensoneural deafness. Nature 387:80-83, 1997.