Lens biology: Development and human cataractogenesis

Trends in Genetics

Volumn 15, Issue 5, 1999, Pages 191-196

  Francis, Peter J ^a,b   Berry, Vanita ^a   Moore, Anthony T ^b,c   Bhattacharya, Shomi ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CATARACT; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW;

ANIMALS; CATARACT; CONNEXINS; CRYSTALLINS; DISEASE MODELS, ANIMAL; GENOTYPE; HUMANS; LENS, CRYSTALLINE; MICE; PHENOTYPE; TRANSCRIPTION FACTORS;

ANIMALIA; VERTEBRATA;

EID: 0032956106     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(99)01738-2     Document Type: Review

References (51)

1. Albert D., Jakobiec F. Principles and Practice of Ophthalmology. 1994;W. B. Saunders.
2. Evans J.et al. Blindness and partial sight in England and Wales: April 1990-March 1991. Health Trends. 28:1996;5-12.
3. Parks M.et al. Long term visual results and complications in children with aphakia: a function of cataract type. Ophthalmology. 100:1993;826-841.
4. Francois J. Genetics of cataract. Ophthalmologica. 184:1982;61-71.
5. McKusick, V. (1997) Online Mendelian Inheritance in Man, OMIM (TM). Centre for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) Vol. 1998.
6. Nettleship F., Ogilvie F. A peculiar form of congenital cataract. Trans. Ophth. Soc. 26:1906;191-206.
7. Renwick J., Lawler S. Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann. Hum. Genet. 27:1963;67-84.
8. Donahue R.et al. Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc. Natl. Acad. Sci. U. S. A. 61:1968;949-955.
9. Snell R., Lemp M. Clinical Anatomy of the Eye. 1989;Blackwell Scientific.
10. McAvoy J. Developmental biology of the lens. Duncan G. Mechanisms of Cataract Formation in the Human Lens. 1981;7-46 Academic Press.
11. Kuszak J.et al. Sutures of the crystalline lens: a review. Scan. Elec. 111:1984;1369-1378.
12. Chylack L. Sugar cataracts - possibly the beginning of medical anti-cataract therapy. Duncan G. Mechanisms of Cataract Formation in the Human Lens. 1981;237-252 Academic Press.
13. Garland D.et al. The nucleus of the human lens: Demonstration of a highly characteristic protein pattern by two-dimensional electrophoresis and introduction of a new method of lens dissection. Exp. Eye Res. 62:1996;285-291.
14. Robinson M.et al. Disregulation of ocular morphogenesis by lens-specific expression of FGF-3/int-2 in transgenic mice. Dev. Biol. 198:1998;13-31.
15. Quiring R.et al. Homology of the eyeless gene of Drosophila to the small eye gene in mice and aniridia in humans. Science. 265:1994;785-789.
16. Hill R.et al. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 354:1991;522-525.
17. Hanson I., van Heyningen V. Pax6: more than meets the eye. Trends Genet. 11:1995;268-272.
18. Grindley J.et al. The role of Pax-6 in eye and nasal development. Development. 121:1995;1433-1442.
19. Duncan M.et al. Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific-crystallin genes. Mol. Cell. Biol. 18:1998;5579-5586.
20. Li X.et al. Lens-preferred activity of chicken delta 1- and delta 2-crystallin enhancers in transgenic mice for retinoic acid-responsive regulation of the delta 1-crystallin gene. Dev. Genet. 20:1997;258-266.
21. Semina E.et al. A novel homeobox gene PITX3 is mutated in families with autosomal dominant cataracts and ASMD. Nat. Genet. 19:1998;167-170.
22. Winchester C.et al. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Hum. Mol. Genet. 8:1999;481-492.
23. Patterson C. The lens. Hart W. Adler's Physiology of the Eye. 1992;348-390 Mosby.
24. Piatigorsky J. Gene sharing in lens and cornea: facts and implications. Prog. Retin. Eye Res. 17:1998;145-174.
25. Lubsen N.et al. The evolution of lenticular proteins: the beta and gamma crystallin supergene family. Prog. Biophys. Mol. Biol. 51:1988;47-76.
26. Piatigorsky J.et al. Recruitment of enzymes and stress proteins as lens crystallins. E.X.S. 71:1994;241-250.
27. Kibbelaar M.et al. Actin in mammalian cells. Eur. J. Biochem. 95:1979;543-549.
28. Carter J.et al. In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin. Exp. Eye Res. 60:1995;181-192.
29. Hess J.et al. Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type 1 intermediate filament protein. J. Biol. Chem. 271:1996;6729-6735.
30. Mulders S.et al. Water channel properties of the major intrinsic proteins. J. Biol. Chem. 270:1995;9010-9016.
31. Goodenough D.et al. Connexins, connexons and intercellular communication. Annu. Rev. Biochem. 65:1996;475-502.
32. Kumar N., Gilula N. The gap junction communication channel. Cell. 84:1996;381-388.
33. Graw J. Cataract mutations as a tool for developmental geneticists. Ophth. Res. 28(Suppl. 1):1996;8-18.
34. Hejtmancik J. The genetics of cataract: our vision becomes clearer. Am. J. Hum. Genet. 62:1998;520-525.
35. Klopp N.et al. Three murine cataract mutants (CAT2) are defective in different gamma-crystallin genes. Genomics. 52:1998;152-158.
36. Steele E.et al. A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract. Curr. Eye Res. 17:1998;883-889.
37. Ionides A.et al. Clinical and genetic heterogeneity in autosomal dominant congenital cataract. Br. J. Ophthalmol. (in press).
38. Shiels A.et al. A missense mutation in the human connexin 50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. Am. J. Hum. Genet. 62:1998;526-532.
39. White T.et al. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fibre protein MP70. Mol. Cell Biol. 3:1992;711-720.
40. Mackay D.et al. Autosomal dominant congenital cataract linked to chromosome 13. Am. J. Hum. Genet. 60:1997;1474-1478.
41. Mackay D.et al. Connexin46 mutations in autosomal dominant congenital cataract. Am. J. Hum. Genet. (in press).
42. Suchyna T.et al. Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature. 365:1993;847-849.
43. Lubsen N.et al. A locus for human hereditary cataract is closely linked to the gamma-crystallin gene family. Proc. Natl. Acad. Sci. U. S. A. 84:1987;489-492.
44. Brackenhoff R.et al. Activation of the gamma-E-crystallin pseudogene in the human hereditary Coppock-like cataract. Hum. Mol. Genet. 3:1994;279-283.
45. Litt M.et al. Autosomal dominant congenital cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum. Mol. Genet. 6:1997;665-668.
46. Litt M.et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum. Mol. Genet. 7:1998;471-474.
47. Eiberg H.et al. Assignment of congenital cataract Volkmann-type (CCV) to chromosome 1p36. Hum. Genet. 96:1995;33-38.
48. Ionides A.et al. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum. Mol. Genet. 6:1997;47-51.
49. Stone E.et al. Identification of a gene that causes primary open angle glaucoma. Science. 275:1997;668-670.
50. Allikmets R.et al. Mutation of the Stargardt disease gene (ABCR) in age related macular degeneration. Science. 277:1997;1805-1807.
51. Lambert S. Lens. Taylor D. Paediatric Ophthalmology. 1997;445-476 Blackwell Scientific.