Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family

Human Mutation

Volumn 34, Issue 3, 2013, Pages 435-438

  Laurie, Kate J ^a   Dave, Alpana ^a   Straga, Tania ^a   Souzeau, Emmanuelle ^a   Chataway, Timothy ^a   Sykes, Matthew J ^b   Casey, Theresa ^c   Teo, Theodosia ^b   Pater, John ^a,c   Craig, Jamie E ^a   Sharma, Shiwani ^a   Burdon, Kathryn P ^a  

^a FLINDERS UNIVERSITY   (Australia)

^b UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Cataract; Crystallin; Genetics; Ocular lens; Oligomerization; Protein analysis

Indexed keywords

ALPHA CRYSTALLIN; ARGININE; CRYSTALLIN; GLUTAMINE; IMIDAZOLE; OLIGOMER; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; AUSTRALIA; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CATARACT EXTRACTION; CHILD; CONGENITAL CATARACT; CONTROLLED STUDY; DISEASE SEVERITY; EYE EXAMINATION; FAMILY HISTORY; FAMILY STUDY; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LENS; MALE; MISSENSE MUTATION; MOLECULAR WEIGHT; NUCLEOTIDE SEQUENCE; OLIGOMERIZATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; WESTERN BLOTTING;

ALPHA-CRYSTALLINS; BLOTTING, WESTERN; CATARACT; CRYSTALLINS; GENES, DOMINANT; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; OCEANIC ANCESTRY GROUP; PEDIGREE; PHENOTYPE; SOUTH AUSTRALIA;

EID: 84873987331     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22260     Document Type: Article

References (22)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Meth 7:248-249.
2. Andley UP. 2007. Crystallins in the eye: function and pathology. Prog Retin Eye Res 26:78-98.
3. Bova MP, Mchaourab HS, Han Y, Fung BKK. 2000. Subunit exchange of small heat shock proteins-analysis of oligomer formation of alpha A-crystallin and Hsp27 by fluorescence resonance energy transfer and site-directed truncations. J Biol Chem 275:1035-1042.
4. Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, Dickinson JL, Sale MM. 2004. Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. Br J Ophthalmol 88:79-83.
5. Colella AD, Chegenii N, Tea MN, Gibbins IL, Williams KA, Chataway TK. 2012. Comparison of stain-free gels with traditional immunoblot loading control methodology. Analyt Biochem 430:108-110.
6. Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. 2008. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis 14:1157-1170.
7. Graw J, Klopp N, Illig T, Preising MN, Lorenz B. 2006. Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefes Arch Clin Exp Ophthalmol 244:912-919.
8. Hansen L, Mikkelsen A, Nurnberg P, Nurnberg G, Anjum I, Eiberg H, Rosenberg T. 2009. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci 50:3291-3303.
9. Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. 2007. Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci 48:3937-3944.
10. Hejtmancik JF. 2008. Congenital cataracts and their molecular genetics. Semin Cell Dev Biol 19:134-149.
11. Horwitz J. 1992. Alpha-crystallin can function as a molecular chaperone. Proc Natl Acad Sci USA 89:10449-10453.
12. Horwitz J. 2003. Alpha-crystallin. Exp Eye Res 76:145-153.
13. Ladner CL, Yang J, Turner RJ, Edwards RA. 2004. Visible fluorescent detection of proteins in polyacrylamide gels without staining. Analyt Biochem 326:13-20.
14. Laganowsky A, Benesch JL, Landau M, Ding L, Sawaya MR, Cascio D, Huang Q, Robinson CV, Horwitz J, Eisenberg D. 2010. Crystal structures of truncated alphaA and alphaB crystallins reveal structural mechanisms of polydispersity important for eye lens function. Protein Sci 19:1031-1043.
15. Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. 1998. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 7:471-474.
16. Mackay DS, Andley UP, Shiels A. 2003. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Eur J Hum Genet 11:784-793.
17. Pasta SY, Raman B, Ramakrishna T, Rao CM. 2003. Role of the conserved SRLFDQFFG region of alpha-crystallin, a small heat shock protein-effect on oligomeric size, subunit exchange, and chaperone-like activity. J Biol Chem 278:51159-51166.
18. Santana A, Waiswol M, Arcieri ES, Cabral de Vasconcellos JP, Barbosa de Melo M. 2009. Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. Mol Vis 15:793-800.
19. Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J. 2006. Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Mol Vis 12:768-773.
20. Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, McAvoy JW, Voss AK, Gecz J, Craig JE. 2009. NHS-A isoform of the NHS gene is a novel interactor of ZO-1. Exp Cell Res 315:2358-2372.
21. Shi J, Koteiche HA, McHaourab HS, Stewart PL. 2006. Cryoelectron microscopy and EPR analysis of engineered symmetric and polydisperse Hsp16.5 assemblies reveals determinants of polydispersity and substrate binding. J Biol Chem 281:40420-40428.
22. Wirth MG, Russell-Eggitt IM, Craig JE, Elder JE, Mackey DA. 2002. Aetiology of congenital and paediatric cataract in an Australian population. Br J Ophthalmol 86:782-786.