Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 12, 2013, Pages 7614-7622

  Berthoud, Viviana M ^a   Minogue, Peter J ^a   Yu, Helena ^a   Schroeder, Richard ^a   Snabb, Joseph I ^a   Beyer, Eric C ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

Congenital cataract; Connexin; Crystallins; Gap junction; Organelle degradation

Indexed keywords

AQUAPORIN; BETA CRYSTALLIN; CONNEXIN 46; CONNEXIN 50; DEOXYRIBONUCLEASE II; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; HISTONE H3; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CATARACT; CELL DIFFERENTIATION; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; ENZYME ACTIVITY; IMMUNOBLOTTING; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOLOCALIZATION; IMMUNOREACTIVITY; LENS EPITHELIUM; LENS FIBER; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION;

CONGENITAL CATARACT; CONNEXIN; CRYSTALLINS; GAP JUNCTION; ORGANELLE DEGRADATION;

ANIMALS; ANIMALS, NEWBORN; AQUAPORINS; CATARACT; CELL DIFFERENTIATION; CELL NUCLEUS; CONNEXINS; CRYSTALLINS; EPITHELIAL CELLS; EYE PROTEINS; GENE EXPRESSION REGULATION; HISTONES; IMMUNOBLOTTING; LENS, CRYSTALLINE; MICE; MICE, INBRED C3H; MICE, MUTANT STRAINS; MICROSCOPY, FLUORESCENCE; POINT MUTATION;

EID: 84888093641     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.13-13188     Document Type: Article

References (36)

1. Churchill A, Graw J. Clinical and experimental advances in congenital and paediatric cataracts. Philos Trans R Soc B. 2011;366:1234-1249.
2. Beyer EC, Ebihara L, Berthoud VM. Connexin mutants and cataracts. Front Pharmacol. 2013;4:43.
3. 3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell. 1997;91:833-843.
4. White TW, Goodenough DA, Paul DL. Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. J Cell Biol. 1998;143:815-825.
5. Rong P, Wang X, Niesman I, et al. Disruption of Gja8 (α8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation. Development. 2002;129:167-174.
6. Graw J, Loster J, Soewarto D, et al. Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract. Exp Eye Res. 2001;73:867-876.
7. Chang B, Wang X, Hawes NL, et al. A Gja8 (Cx50) point mutation causes an alteration of α3 connexin (Cx46) in semidominant cataracts of Lop10 mice. Hum Mol Genet. 2002;11:507-513.
8. Yamashita S, Furumoto K, Nobukiyo A, Kamohara M, Ushijima T, Furukawa T. Mapping of a gene responsible for cataract formation and its modifier in the UPL rat. Invest Ophthalmol Vis Sci. 2002;43:3153-3159.
9. Yoshida M, Harada Y, Kaidzu S, Ohira A, Masuda J, Nabika T. New genetic model rat for congenital cataracts due to a connexin 46 (Gja3) mutation. Pathol Int. 2005;55:732-737.
10. Xia CH, Liu H, Cheung D, et al. Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. Development. 2006;133:2033-2040.
11. Xia CH, Chang B, De Rosa AM, Cheng C, White TW, Gong X. Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. PLoS One. 2012;7:e52894.
12. Arora A, Minogue PJ, Liu X, et al. A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008;45:155-160.
13. Wang L, Luo Y, Wen W, Zhang S, Lu Y. Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. Mol Vis. 2011;17:2380-2385.
14. Favor J. A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983;110:367-382.
15. Steele ECJ, Lyon MF, Favor J, Guillot PV, Boyd Y, Church RL. A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr Eye Res. 1998;17:883-889.
16. Xu X, Ebihara L. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci. 1999;40:1844-1850.
17. Berthoud VM, Minogue PJ, Guo J, et al. Loss of function and impaired degradation of a cataract-associated mutant connexin50. Eur J Cell Biol. 2003;82:209-221.
18. Chung J, Berthoud VM, Novak L, et al. Transgenic overexpression of connexin50 induces cataracts. Exp Eye Res. 2007;84:513-528.
19. Berthoud VM, Singh R, Minogue PJ, Ragsdale CW, Beyer EC. Highly restricted pattern of connexin36 expression in chick somite development. Anat Embryol (Berl). 2004;209:11-18.
20. Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem. 1976;72:248-254.
21. Minogue PJ, Tong JJ, Arora A, et al. A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci. 2009;50:5837-5845.
22. De Maria A, Bassnett S. DNase IIβ distribution and activity in the mouse lens. Invest Ophthalmol Vis Sci. 2007;48:5638-5646.
23. Gerido DA, Sellito C, Li L, White TW. Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice. Invest Ophthalmol Vis Sci. 2003;44:2669-2674.
24. Beyer EC, Kistler J, Paul DL, Goodenough DA. Antisera directed against connexin43 peptides react with a 43-kD protein localized to gap junctions in myocardium and other tissues. J Cell Biol. 1989;108:595-605.
25. Nishimoto S, Kawane K, Watanabe-Fukunaga R, et al. Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens. Nature. 2003;424:1071-1074.
26. 8 connexin knockout mice. J Gen Physiol. 2001;118:447-456.
27. White TW. Unique and redundant connexin contributions to lens development. Science. 2002;295:319-320.
28. Shiels A, Bassnett S, Varadaraj K, et al. Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice. Physiol Genomics. 2001;7:179-186.
29. Mangenot S, Buzhynskyy N, Girmens JF, Scheuring S. Malformation of junctional microdomains in cataract lens membranes from a type II diabetes patient. Pflügers Arch. 2009;457:1265-1274.
30. Alapure BV, Stull JK, Firtina Z, Duncan MK. The unfolded protein response is activated in connexin 50 mutant mouse lenses. Exp Eye Res. 2012;102:28-37.
31. Wang X, Garcia CM, Shui Y-B, Beebe DC. Expression and regulation of α-, β-, and γ-crystallins in mammalian lens epithelial cells. Invest Ophthalmol Vis Sci. 2004;45:3608-3619.
32. Zhao H, Yang T, Madakashira BP, et al. Fibroblast growth factor receptor signaling is essential for lens fiber cell differentiation. Dev Biol. 2008;318:276-288.
33. de Jong WW, Leunissen JAM, Voorter CEM. Evolution of the αcrystallin/ small heat-shock protein family. Mol Biol Evol. 1993;10:103-126.
34. Dasgupta S, Hohman TC, Carper D. Hypertonic stress induces αB-crystallin expression. Exp Eye Res. 1992;54:461-470.
35. Alge CS, Priglinger SG, Neubauer AS, et al. Retinal pigment epithelium is protected against apoptosis by αB-crystallin. Invest Ophthalmol Vis Sci. 2002;43:3575-3582.
36. Goldfarb LG, Vicart P, Goebel HH, Dalakas MC. Desmin myopathy. Brain. 2004;127:723-734.