Overexpression of human γC-crystallin 5 bp duplication disrupts lens morphology in transgenic mice

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 8, 2011, Pages 5369-5375

  Ma, Zhiwei ^a   Yao, Wenliang ^a,b   Theendakara, Veena ^a,c   Chan, Chi Chao ^a   Wawrousek, Eric ^a   Fielding Hejtmancik, J ^a  

^a NATIONAL EYE INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA CRYSTALLIN; MESSENGER RNA; CRYGC PROTEIN, HUMAN;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CATARACT; CONFOCAL MICROSCOPY; CONTROLLED STUDY; EMBRYO; ESCHERICHIA COLI; GENE DUPLICATION; GENE OVEREXPRESSION; HISTOLOGY; HUMAN; HUMAN CELL; LENS; LENS FIBER; MOUSE; NONHUMAN; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRANSGENIC MOUSE; WESTERN BLOTTING; ANIMAL; BASE PAIRING; CELL MOTION; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; GENETICS; HELA CELL; METABOLISM; MUTATION; NEWBORN; PATHOLOGY; PHYSIOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; TRANSGENE;

ANIMALS; ANIMALS, NEWBORN; BASE PAIRING; BLOTTING, WESTERN; CATARACT; CELL MOVEMENT; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GAMMA-CRYSTALLINS; GENE DUPLICATION; GENE EXPRESSION REGULATION; HELA CELLS; HUMANS; LENS, CRYSTALLINE; MICE; MICE, TRANSGENIC; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; TRANSGENES;

EID: 80052808143     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-7168     Document Type: Article

References (20)

1. Wistow G. Evolution of a protein superfamily: relationships between vertebrate lens crystallins and microorganism dormancy proteins. J Mol Evol. 1990;30:140-145.
2. Ray ME, Wistow G, Su YA, Meltzer PS, Trent JM. A1M1, a novel non-lens member of the beta-gamma-crystallin superfamily associated with the control of tumorigenicity in human malignant melanoma. Proc Natl Acad Sci USA. 1997;94:3229-3234.
3. Hejtmancik JF, Kaiser-Kupfer MI, Piatigorsky J. Molecular biology and inherited disorders of the eye lens. In: Scriver, CR, Beaudet, AL, Valle, D, Sly, WS, Childs, B, Kinzler, KW, Vogelstein, B, eds. The Metabolic and Molecular Basis of Inherited Disease, 8nd ed. New York: McGraw Hill; 2001:6033-6062.
4. Graw J. The crystallins: genes, proteins and diseases. Biol Chem. 1997;378:1331-1348.
5. Shiels A, Bennett TM, Hejtmancik JF. Cat-Map: putting cataract on the map. Mol Vis. 2010;16:2007-2015.
6. Ren Z, Li A, Shastry BS, et al. A 5-base insertion in the γC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. Hum Genet. 2000;106:531-537.
7. Scott MH, Hejtmancik JF, Wozencraft LA, et al. Autosomal dominant congenital cataract: interocular phenotypic heterogeneity. Ophthalmology. 1994;101:866-871.
8. Taube JR, Gao CY, Ueda Y, et al. General utility of the chicken betaB1-crystallin promoter to drive protein expression in lens fiber cells of transgenic mice. Transgenic Res. 2002;11:397-410.
9. Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004;74:817-826.
10. Wawrousek EF, Chepelinsky AB, McDermott JB, Piatigorsky J. Regulation of the murine alpha A-crystallin promoter in transgenic mice. Dev Biol. 1990;137:68-76.
11. Riazuddin SA, Yasmeen A, Yao W, et al. Mutations in βB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci. 2005;46:2100-2106.
12. Basti S, Hejtmancik JF, Padma T, et al. Autosomal dominant zonular cataract with sutural opacities in a four-generation family. Am J Ophthalmol. 1996;121:162-168.
13. Pande A, Ghosh KS, Banerjee PR, Pande J. Increase in surface hydrophobicity of the cataract-associated P23T mutant of human gammaD-crystallin is responsible for its dramatically lower, retrograde solubility. Biochemistry. 2010;49:6122-6129.
14. Pande A, Pande J, Asherie N, et al. Crystal cataracts: human genetic cataract caused by protein crystallization. Proc Natl Acad Sci USA. 2001;98:6116-6120.
15. Wang K, Cheng C, Li L, et al. GammaD-crystallin associated protein aggregation and lens fiber cell denucleation. Invest Ophthalmol Vis Sci. 2007;48:3719-3728.
16. Graw J, Neuhauser-Klaus A, Klopp N, et al. Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse. Invest Ophthalmol Vis Sci. 2004;45: 1202-1213.
17. Graw J. Mouse models of cataract. J Genet. 2009;88:469-486.
18. Duncan MK, Roth HJ, Thompson M, Kantorow M, Piatigorsky J. Chicken beta B1 crystallin: gene sequence and evidence for functional conservation of promoter activity between chicken and mouse. Biochim Biophys Acta. 1995;1261:68-76.
19. Chen WV, Hejtmancik JF, Piatigorsky J, Duncan MK. The mouse betaB1-crystallin promoter: strict regulation of lens fiber cell specificity. Biochim Biophys Acta. 2001;1519:30-38.
20. Liu H, Du X, Wang M, et al. Crystallin {gamma}B-I4F mutant protein binds to {alpha}-crystallin and affects lens transparency. J Biol Chem. 2005;280:25071-25078.