Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2

Molecular Vision

Volumn 15, Issue , 2009, Pages 1470-1475

  Mothobi, Maneo Emily ^a,b   Guo, Shuren ^a   Liu, Yuanyuan ^a   Chen, Qiang ^a   Yussuf, Ali Said ^c   Zhu, Xinli ^a   Fang, Zheng ^a  

^a WUHAN UNIVERSITY   (China)

^b Health Research and Laboratory Services   (Lesotho)

^c RENMIN HOSPITAL OF WUHAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA CRYSTALLIN; BETA CRYSTALLIN; CRYSTALLIN; CRYSTALLIN BETA B1; CRYSTALLIN BETA B2; CRYSTALLIN GAMMA C; CRYSTALLIN GAMMA D; GAMMA CRYSTALLIN; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN ALPHA 8; GLYCINE; METHIONINE; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG; VALINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BIOINFORMATICS; BLURRED VISION; CATARACT EXTRACTION; CATARACTOGENESIS; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; EXON; FAMILY SIZE; FEMALE; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RESTRICTION SITE; SENILE CATARACT; STRABISMUS;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; BASE SEQUENCE; BETA-CRYSTALLIN B CHAIN; CATARACT; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; PEDIGREE;

EID: 68349101170     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. World Health Organization. Fact Sheet 282. Magnitude and causes of visual impairment. November 2004.
2. What is VISION2020? > VISION 2020 Global Facts. May 2008. http://www.v2020.org/page.asp?section=0001000100090002
3. Reddy MA, Francis PJ, Berry V, Bhattacharya SS, Moore AT. Molecular Genetic Basis of Inherited Cataract and Associated Phenotypes. Surv Ophthalmol 2004; 49:300-15.
4. Hejtmancik JF. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 2008; 19:134-49.
5. Moore AT. Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract. Br J Ophthalmol 2004; 88:2-3.
6. 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.
7. Sajjad N, Goebel I, Kakar N, Cheema AM, Kubisch C, Ahmad J. A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan. BMC Med Genet 2008; 9:99.
8. Andley UP. Crystallins in the eye: Function and pathology. Prog Retin Eye Res 2007; 26:78-98.
9. Piatigorsky J. Evolutionary genetics: Seeing the light: the role of inherited developmental cascades in the origins of vertebrate lenses and their crystallins. Heredity 2006; 96:275-7.
10. Hejtmancik JF, Wingfield PT, Sergeev YV. β-Crystallin association. Exp Eye Res 2004; 79:377-83.
11. Liu BF, Liang JJ, Anbarasu K. Confocal fluorescence resonance energy transfer microscopy study of protein-protein interactions of lens crystallins in living cells. Mol Vis 2007; 13:854-61.
12. Lampi KJ, Ma Z, Shih M, Shearer TR, Smith JB, Smith DL, David LL. Sequence analysis of βA3, βB3, and βA4 crystallins completes the identification of the major proteins in young human lens. J Biol Chem 1997; 272:2268-75.
13. Zhang Z, David L, Smith D, Smith J. Resistance of human Β2-crystallin to in vivo modification. Exp Eye Res 2001; 73:203-11.
14. Feng J, Smith DL, Smith JB. Human lens β-crystallin stability. J Biol Chem 2000; 275:11585-90.
15. Lampi KJ, Amyx KK, Ahmann P, Steel EA. Deamidation in human lens βB2-crystallin destabilizes the dimer. Biochemistry 2006; 45:3146-53.
16. Vanita, Sarhadi V, Reis A, Jung M, Singh D, Sperling K, Singh JR, Bürger J. A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene. J Med Genet 2001; 38:392-6.
17. Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 1997; 6:665-8.
18. Gill D, Klose R, Munier FL, McFadden M, Priston M, Billingsley G, Ducrey N, Schorderet DF, Heon E. Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2. Invest Ophthalmol Vis Sci 2000; 41:159-65.
19. Maeda YY, Funata N, Takahama S, Sugata Y, Yonekawa H. Two interactive genes responsible for a new inherited cataract (RCT) in the mouse. Mamm Genome 2001; 12:278-83.
20. Santhiya ST, Manisastry SM, Rawlley D, Malathi R, Anishetty S, Gopinath PM, Vijayalakshmi P, Namperumalsamy P, Adamski J, Graw J. Mutation Analysis of Congenital Cataracts in Indian Families: Identification of SNPs and a New Causative Allele in CRYBB2 Gene. Invest Ophthalmol Vis Sci 2004; 45:3599-607.
21. Graw J, Löster J, Soewarto D, Fuchs H, Reis A, Wolf E, Balling R, Hrabé de Angelis M. Aey2, a new mutation in the βB2-crystallin encoding gene in the mouse. Invest Ophthalmol Vis Sci 2001; 42:1574-80.
22. Soetens O, Vauloup-Fellous C, Foulon I, Dubreuil P, De Saeger B, Grangeot-Keros L, Naessens A. Evaluation of Different Cytomegalovirus (CMV) DNA PCR Protocols for Analysis of Dried Blood Spots from Consecutive Cases of Neonates with Congenital CMV Infections. J Clin Microbiol 2008; 46:943-6.
23. Bassam BJ, Gresshoff PM. Silver staining DNA in polyacrylamide gels. Nat Protoc 2007; 2:2649-54.
24. Combet C, Blanchet C, Geourjon C, Deleage G. NPS" network protein sequence analysis. Trends Biochem Sci 2000; 25:147-50.
25. Deleage G, Combet C, Blanchet C, Geourjon C. Antheprot: An Integrated Protein Sequence Analysis Software With Client/server Capabilities. Comput Biol Med 2001; 31:259-67.
26. Lambert C, Leonard N, De Bolle X, Depiereux E. ESyPred3D: Prediction of proteins 3D structures. Bioinformatics 2002; 18:1250-6.
27. Guex N, Peitsch MC. SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 1997; 18:2714-23.
28. Sergeev YV, David LL, Chen HC, Hope JN, Hejtmancik JF. Local microdomain structure in the terminal extension of βA3- and βB2-crystallins. Mol Vis 1998; 4:9.
29. Graw J. Genetics of crystallins: Cataract and beyond. Exp Eye Res 2009; 88:173-89.
30. Norledge BV, Trinkl S, Jaenicke S, Sligsby C. The X-ray structure of a mutant eye lens beta B2-crystallin with truncated sequence extensions. Protein Sci 1997; 6:1612-20.
31. Takemoto L, Sorensen CM. Protein-protein interactions and lens. Exp Eye Res 2008; 87:496-501.
32. Liu BF, Liang JJN. Domain Interaction Sites of Human Lens βB2-Crystallin. J Biol Chem 2006; 281:2624-30.