The γ-crystallins and human cataracts: A puzzle made clearer

American Journal of Human Genetics

Volumn 65, Issue 5, 1999, Pages 1261-1267

  Héon, Elise ^a,b,c   Priston, Megan ^a   Schorderet, Daniel F ^d   Billingsley, Gail D ^a   Girard, Philippe Othenin ^e   Lubsen, Nicolette ^f   Munier, Francis L ^d,e  

^a Eye Research Institute of Canada   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d Division of Medical Genetics   (Switzerland)

^e HÔPITAL OPHTALMIQUE JULES GONIN   (Switzerland)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA CRYSTALLIN;

ARTICLE; CATARACT; CATARACTOGENESIS; CHROMOSOME 2Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE ISOLATION; GENE LOCATION; GENETIC SUSCEPTIBILITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL;

EID: 0033358423     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302619     Document Type: Article

References (28)

1. Brakenhoff R, Henskens H, van Rossum M, Lubsen N, Schoenmakers G (1994) Activation of the γE-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum Mol Genet 3:279-283
2. Cartier M, Breitman M, Tsui L-C (1992) A frame-shift mutation in the gammaE-crystallin gene of the Elo mouse. Nat Genet 2:42-45
3. Cartier M, Tsui L, Ball S, Lubsen N (1994) Crystallins genes and cataract. In: Wright A, Jay B (eds) Modern genetics. Vol 2: Molecular genetics of inherited eye disorders. Harwood Academic, Edinburgh, pp 413-443
4. Hejtmancik JF (1998) The genetics of cataract: our vision becomes clearer. Am J Hum Genet 62:520-525
5. Héon E, Liu S, Billingsley G, Bernasconi O, Tsifildis C, Shorderet DF, Munier FI. (1998) Gene localization for aculeiform cataract, on chromosome 2q33-35. Am J Hum Genet 63: 921-926
6. Kannabiran C, Rogan P, Olmos L, Basti S, Rao G, Kaiser-Kupfer M, Hejtmancik J (1998) Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the βA3/A1-crystallin gene. Mol Vis 4:21-31
7. Klopp N, Favor J, Loster J, Lutrz R, Neuhauser-Klaus A, Prescott A, Pretsch W, et al (1998) Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes. Genomics 52:152-158
8. Li S-C, Goto N, Williams K, Deber C (1996) α-helical, but not β-sheet, propensity of proline is determined by peptide environment. Proc Natl Acad Sci USA 93:6676-6681
9. Litt M, Carrero VR, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH (1997) Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet 6:665-668
10. 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
11. Lubsen N, Renwick J, Tsui L-C, Breitman M, Schoenmackers J (1987) A locus of a human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc Natl Acad Sci USA 84:489-492
12. Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, et al (1999) Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet 64: 1357-1364
13. Meakin S, Breitman M, Tsui I. (1985) Structural and evolutionary relationships among five members of the human γ-crystallins gene family. Mol Cell Biol 5:1408-1414
14. Miller S, Dykes D, Polesky H (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 16:1215
15. Mitchell KR, Warshawsky D (1998) Mutational analysis using enriched PCR and cycle sequencing. Biotechniques 24: 1028-1031
16. Nettleship E, Ogilvie F (1906) A peculiar form of hereditary congenital cataract. Trans Ophthalmol Soc UK 26:191-207
17. Newton C, Graham A, Heptinsall I, Powell S, Summers C, Kalsheker N (1989) Analysis of any point mutation in DNA: the amplification refractory mutation system (ARMS). Nucleic Acid Res 17:2503-2515
18. Papaconstantinou J (1967) Molecular aspects of lens differentiation. Science 156:338-346
19. Piatigorsky J (1981) Lens differentiation in vertebrates: a review of cellular and molecular features. Differentiation 19: 134-153
20. -(1984) Lens crystallins and their gene families. Cell 38:620-621
21. Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, Turaeva S, et al (1996) Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35. Hum Mol Genet 5: 699-703
22. Santhiya S, Abd-alla S, Löster J, Graw J (1995) Reduced levels of gamma-crystallin transcripts during embryonic development of murine Cat2nop mutant lenses. Graefes Arch Clin Exp Ophthalmol 233:795-800
23. Sergeev YV, David LL, Chen HC, Hope JN, Hejtmancik JF (1998) Local microdomain structure in the terminal extensions of betaA3-and betaB2-crystallins. Mol Vis 4:9
24. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S (1998) A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 62:526-532
25. Stephan D, Gillanders F, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis A, Robbins C, et al (1999) Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci USA 96: 1008-1012
26. Vogt A (1922) Weitere Ergebnisse der Spaltlampenmikroskopie des vorderen Bulbsabschnittes. III. Angeborene und früth erworbene Linsenveränderungen. von Greafes Arch Ophthalmol 107:237-240
27. White HE, Driessen HP, Slingsby C, Moss DS, Lindley PF (1989) Packing interactions in the eye-lens: structural analysis, internal symmetry and lattice interactions of bovine gamma IVa-crystallin. J Mol Biol 207:217-235
28. Wood S, Wetzel R, Martin J, Hurle M (1995) Prolines and amyloidogenicity in fragments of Alzeimer's peptide β/A4. Biochemistry 34:724-730