Novel mutation in the γ-S crystallin gene causing autosomal dominant cataract

Molecular Vision

Volumn 15, Issue , 2009, Pages 476-481

  Vanita, Vanita ^a   Singh, Jai Rup ^a   Singh, Daljit ^b   Varon, Raymonda ^c   Sperling, Karl ^c  

^a GURU NANAK DEV UNIVERSITY   (India)

^b Dr Daljit Singh Eye Hospital   (India)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; CRYSTALLIN; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; METHIONINE; VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CHILD; CHROMOSOME 11Q; CHROMOSOME 3Q; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY HISTORY; GENE LOCUS; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; INDIAN; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CASE-CONTROL STUDIES; CATARACT; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GAMMA-CRYSTALLINS; GENES, DOMINANT; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 62849103664     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Reese PD, Tuck-Muller CM, Maumenee IH. Autosomal dominant congenital cataract associated with chromosomal translocation [t(3;4)(p26.2;p15)]. Arch Ophthalmol 1987; 105:1382-4.
2. Vanita, Singh JR, Singh D. Genetic and segregation analysis of congenital cataract in the Indian population. Clin Genet 1999; 56:389-93.
3. Amaya L, Taylor D, Russell-Eggitt I, Nischal KK, Lengyel D. The morphology and natural history of childhood cataracts. Surv Ophthalmol 2003; 48:125-44.
4. Vanita V, Singh D, Robinson PN, Sperling K, Singh JR. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A 2006; 140:558-66.
5. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36:460-5.
6. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58:1347-63.
7. Tardieu A. Eye lens proteins and transparency: from light transmission theory to solution X-ray structural analysis. Annu Rev Biophys Biophys Chem 1988; 17:47-70.
8. Vérétout F, Delaye M, Tardieu A. Molecular basis of eye lens transparency. Osmotic pressure and X-ray analysis of alpha-crystallin solutions. J Mol Biol 1989; 205:713-28.
9. Wistow GJ, Piatigorsky J. Lens crystallins: the evolution and expression of proteins for a highly specialized tissue. Annu Rev Biochem 1988; 57:479-504.
10. Jaffe NS, Horwitz J. Lens and cataract. In: Podos SM, Yanoff M, editors. Text book of Ophthalmology. Vol. 3. New York: Gower Medical Publishing; 1992. p. 5.6-5.7.
11. Bagby S, Harvey TS, Kay LE, Eagle SG, Inouye S, Ikura M. Unusual helix-containing greek keys in development-specific Ca(2+)-binding protein S. 1H, 15N, and 13C assignments and secondary structure determined with the use of multidimensional double and triple resonance heteronuclear NMR spectroscopy. Biochemistry 1994; 33:2409-21.
12. Blundell T, Lindley P, Miller L, Moss D, Slingsby C, Tickle I, Turnell B, Wistow G. The molecular structure and stability of the eye lens: x-ray analysis of gamma-crystallin II. Nature 1981; 289:771-7.
13. Siezen RJ, Thomson JA, Kaplan ED, Benedek GB. Human lens gamma-crystallins: isolation, identification, and characterization of the expressed gene products. Proc Natl Acad Sci USA 1987; 84:6088-92.
14. Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y. Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. J Med Genet 2005; 42:706-10.
15. Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis 2008; 14:1157-70.
16. Sinha D, Wyatt MK, Sarra R, Jaworski C, Slingsby C, Thaung C, Pannell L, Robison WG, Favor J, Lyon M, Wistow G. A temperature-sensitive mutation of Crygs in the murine Opj cataract. J Biol Chem 2001; 276:9308-15.
17. Bu L, Yan S, Jin M, Jin Y, Yu C, Xiao S, Xie Q, Hu L, Xie Y, Solitang Y, Liu J, Zhao G, Kong X. The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. Genomics 2002; 80:38-44.
18. Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB. A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. Am J Hum Genet 2000; 66:1426-31.
19. Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. Am J Hum Genet 2000; 66:1432-6.
20. Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King J, Benedek GB. Crystal cataracts: human genetic cataract caused by protein crystallization. Proc Natl Acad Sci USA 2001; 98:6116-20.
21. Pande A, Pande J, Asherie N, Lomakin A, Ogun O, King JA, Lubsen NH, Walton D, Benedek GB. Molecular basis of a progressive juvenile-onset hereditary cataract. Proc Natl Acad Sci USA 2000; 97:1993-8.
22. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 1998; 62:526-32.
23. Pal JD, Berthoud VM, Beyer EC, Mackay D, Shiels A, Ebihara L. Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol 1999; 276:C1443-6.
24. Arora A, Minogue PJ, Liu X, Reddy MA, Ainsworth JR, Bhattacharya SS, Webster AR, Hunt DM, Ebihara L, Moore AT, Beyer EC, Berthoud VM. A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet 2006; 43:e2.
25. Xu X, Ebihara L. Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract. Invest Ophthalmol Vis Sci 1999; 40:1844-50.
26. Chang B, Wang X, Hawes NL, Ojakian R, Davisson MT, Lo WK, Gong XA. Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet 2002; 11:507-13.
27. Willoughby CE, Arab S, Gandhi R, Zeinali S, Arab S, Luk D, Billingsley G, Munier FL, Heon E. A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet 2003; 40:e124.
28. Zarina S, Abbasi A, Zaidi ZH. Primary structure of beta s-crystallin from human lens. Biochem J 1992; 287:375-81.
29. Liu C, Pande J, Lomakin A, Ogun O, Benedek GB. Aggregation in aqueous solutions of bovine lens gamma-crystallins: special role of gamma(s). Invest Ophthalmol Vis Sci 1998; 39:1609-19.
30. Bours J. Calf lens alpha-crystallin, a molecular chaperone, builds stable complexes with beta s- and gamma-crystallins. Ophthalmic Res 1996; 28:23-31.