Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities

Mechanisms of Development

Volumn 118, Issue 1-2, 2002, Pages 3-17

  Baulmann, Daniela C ^a   Ohlmann, Andreas ^a   Flügel Koch, Cassandra ^a   Goswami, Sumanta ^b   Cvekl, Ales ^b   Tamm, Ernst R ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Cornea; Iris; Pax6; Peters' anomaly; Schlemm's canal; Trabecular meshwork

Indexed keywords

BETA GALACTOSIDASE; TRANSCRIPTION FACTOR PAX6; EYE PROTEIN; HOMEODOMAIN PROTEIN; PAIRED BOX TRANSCRIPTION FACTOR; REPRESSOR PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTERIOR EYE CHAMBER DISEASE; ARTICLE; CELL CULTURE; CELL DIFFERENTIATION; CONTROLLED STUDY; CORNEA OPACITY; EYE DEVELOPMENT; IMMUNOREACTIVITY; IRIS COLOBOMA; LENS; LENS EPITHELIUM; MOUSE; MUTATION; NONHUMAN; PETERS ANOMALY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHLEMM CANAL; TRABECULAR MESHWORK; WILD TYPE; ANIMAL; CORNEA; DOMINANT GENE; EYE; FLUORESCENCE MICROSCOPY; GENETICS; HETEROZYGOTE; IRIS; MESODERM; METABOLISM; MOUSE MUTANT; PHYSIOLOGY; PRENATAL DEVELOPMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TIME; WESTERN BLOTTING;

ANIMALIA; MURINAE;

ANIMALS; BETA-GALACTOSIDASE; BLOTTING, WESTERN; CELL DIFFERENTIATION; CELLS, CULTURED; CORNEA; EYE; EYE PROTEINS; GENES, DOMINANT; HETEROZYGOTE; HOMEODOMAIN PROTEINS; IRIS; LENS, CRYSTALLINE; MESODERM; MICE; MICE, MUTANT STRAINS; MICROSCOPY, FLUORESCENCE; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TIME FACTORS;

EID: 0036805779     PISSN: 09254773     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4773(02)00260-5     Document Type: Article

References (64)

1. Ashery-Padan R., Gruss P. Pax6 lights-up the way for eye development. Curr. Opin. Cell Biol. 13:2001;706-714.
2. Beebe D.C., Coats J.M. The lens organizes the anterior segment: specification of neural crest cell differentiation in the avian eye. Dev. Biol. 220:2000;424-431.
3. Bergmeister R. Zwei Fälle von angeborener Irideremie. v. Graefes Arch. Ophthal. 59:1904;31-45.
4. Callahan A. Aniridia with ectopia lentis and secondary glaucoma. Am. J. Ophthalmol. 32:1949;28-40.
5. Chow R.L., Lang R.A. Early eye development in vertebrates. Annu. Rev. Cell Dev. Biol. 17:2001;255-296.
6. Churchill A.J., Booth A.P., Anwar R., Markham A.F. PAX 6 is normal in most cases of Peters' anomaly. Eye. 12:(Pt 2):1998;299-303.
7. Collins T. Congenital defects of the iris and glaucoma. Trans. Ophthalmol. Soc. UK. 13:1893;128-139.
8. Collinson J.M., Quinn J.C., Buchanan M.A., Kaufman M.H., Wedden S.E., West J.D., Hill R.E. Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc. Natl. Acad. Sci. USA. 98:2001;9688-9693.
9. Cvekl A., Kashanchi F., Sax C.M., Brady J.N., Piatigorsky J. Transcriptional regulation of the mouse alpha A-crystallin gene: activation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site. Mol. Cell. Biol. 15:1995;653-660.
10. Davis J.A., Reed R.R. Role of Olf-1 and Pax-6 transcription factors in neurodevelopment. J. Neurosci. 16:1996;5082-5094.
11. Duke-Elder S. Hypoplasia of the iris: aniridia. Duke-Elder S., System of Ophthalmology. Normal and Abnormal Development. Part 2: Congenital Disorders. 1964;565-572 Henry Kimpton, London.
12. Duncan M.K., Haynes J.I., Cvekl A., Piatigorsky J. Dual roles for Pax-6: a transcriptional repressor of lens fiber cell-specific beta-crystallin genes. Mol. Cell. Biol. 18:1998;5579-5586.
13. Duncan M.K., Kozmik Z., Cveklova K., Piatigorsky J., Cvekl A. Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression. J. Cell Sci. 113:(Pt 18):2000;3173-3185.
14. Gehring W.J., Ikeo K. Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet. 15:1999;371-377.
15. Genis-Galvez J.M. Role of the lens in the morphogenesis of the iris and cornea. Nature. 210:1966;209-210.
16. Glaser T., Walton D.S., Maas R.L. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat. Genet. 2:1992;232-239.
17. Gould D.B., John S.W. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum. Mol. Genet. 11:2002;1185-1193.
18. Grant W.M., Walton D.S. Progressive changes in the angle in congenital aniridia, with development of glaucoma. Am. J. Ophthalmol. 78:1974;842-847.
19. Grindley J.C., Davidson D.R., Hill R.E. The role of pax-6 in eye and nasal development. Development. 121:1995;1433-1442.
20. Hamburg A. Incomplete separation of the lens and related malformations. Am. J. Ophthalmol. 64:1967;729-733.
21. Hanson I.M., Fletcher J.M., Jordan T., Brown A., Taylor D., Adams R.J., Punnett H.H., van Heyningen V. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat. Genet. 6:1994;168-173.
22. Harden A.F., Mooney D.O., Mooney D.J. Congenital keratolenticular adhesion. Am. J. Ophthalmol. 70:1970;975-977.
23. Hill R.E., Favor J., Hogan B.L., Ton C.C., Saunders G.F., Hanson I.M., Prosser J., Jordan T., Hastie N.D., van Heyningen V. Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature. 354:1991;522-525.
24. Hogan B.L., Horsburgh G., Cohen J., Hetherington C.M., Fisher G., Lyon M.F. Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J. Embryol. Exp. Morphol. 97:1986;95-110.
25. Hogan B.L., Hirst E.M., Horsburgh G., Hetherington C.M. Small eye (Sey): a mouse model for the genetic analysis of craniofacial abnormalities. Development. 103:(Suppl.):1988;115-119.
26. Ito S., Karnovsky M.J. Formaldehyde-glutaraldehyde fixatives containing trinitro compounds. J. Cell Biol. 39:1968;168A-169A.
27. Jaskoll T., Zhou Y.M., Chai Y., Makarenkova H.P., Collinson J.M., West J.D., Hajihosseini M.K., Lee J., Melnick M. Embryonic submandibular gland morphogenesis: stage-specific protein localization of FGFs, BMPs, Pax6 and Pax9 in normal mice and abnormal SMG phenotypes in FgfR2-IIIc(+/Delta), BMP7(-/-) and Pax6(-/-) mice. Cells Tissues Organs. 170:2002;83-98.
28. b-tsA58 transgenic mouse. Proc. Natl. Acad. Sci. USA. 88:1991;5096-5100.
29. John S.W., Hagaman J.R., MacTaggart T.E., Peng L., Smithes O. Intraocular pressure in inbred mouse strains. Invest. Ophthalmol. Vis. Sci. 38:1997;249-253.
30. Johnston M.C., Noden D.M., Hazelton R.D., Coulombre J.L., Coulombre A.J. Origins of avian ocular and periocular tissues. Exp. Eye Res. 29:1979;27-43.
31. Jordan T., Hanson I., Zaletayev D., Hodgson S., Prosser J., Seawright A., Hastie N., van Heyningen V. The human PAX6 gene is mutated in two patients with aniridia. Nat. Genet. 1:1992;328-332.
32. Kammandel B., Chowdhury K., Stoykova A., Aparicio S., Brenner S., Gruss P. Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity. Dev. Biol. 205:1999;79-97.
33. Karali A., Russell P., Stefani F.H., Tamm E.R. Localization of myocilin/trabecular meshwork inducible glucocorticoid response protein in the human eye. Invest. Ophthalmol. Vis. Sci. 41:2000;729-740.
34. Kirstein L., Cvekl A., Chauhan B.K., Tamm E.R. Regulation of human myocilin/TIGR gene transcription in trabecular meshwork cells and astrocytes: role of upstream stimulatory factor. Genes Cells. 5:2000;661-676.
35. Koroma B.M., Yang J.M., Sundin O.H. The Pax-6 homeobox gene is expressed throughout the corneal and conjunctival epithelia. Invest. Ophthalmol. Vis. Sci. 38:1997;108-120.
36. Margo C.E. Congenital aniridia: a histopathologic study of the anterior segment in children. J. Pediatr. Ophthalmol. Strabismus. 20:1983;192-198.
37. Matsuo T., Osumi-Yamashita N., Noji S., Ohuchi H., Koyama E., Myokai F., Matsuo N., Taniguchi S., Doi H., Iseki S. A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nat. Genet. 3:1993;299-304.
38. Mintz-Hittner H.A. Aniridia. Ritch R., Shields M.B., Krupin T., The Glaucomas. 1996;859-874 Mosby, St. Louis, MO.
39. Nagase T., Nakamura S., Harii K., Osumi N. Ectopically localized HNK-1 epitope perturbs migration of the midbrain neural crest cells in Pax6 mutant rat. Dev. Growth Differ. 43:2001;683-692.
40. Nelson L.B., Spaeth G.L., Nowinski T.S., Margo C.E., Jackson L. Aniridia. A review. Surv. Ophthalmol. 28:1984;621-642.
41. Nishina S., Kohsaka S., Yamaguchi Y., Handa H., Kawakami A., Fujisawa H., Azuma N. PAX6 expression in the developing human eye. Br. J. Ophthalmol. 83:1999;723-727.
42. Peters A. Über angeborene Defektbildungen in der Descemetschen Membran. Klin. Mbl. Augenheilk. 44:1906;105.
43. Prosser J., van Heyningen V. PAX6 mutations reviewed. Hum. Mutat. 11:1998;93-108.
44. van Raamsdonk C.D., Tilghman S.M. Dosage requirement and allelic expression of PAX6 during lens placode formation. Development. 127:2000;5439-5448.
45. Richardson J., Cvekl A., Wistow G. Pax-6 is essential for lens-specific expression of zeta-crystallin. Proc. Natl. Acad. Sci. USA. 92:1995;4676-4680.
46. Schedl A., Ross A., Lee M., Engelkamp D., Rashbass P., van Heyningen V., Hastie N.D. Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell. 86:1996;71-82.
47. Schottenstein E.M. Peters' anomaly. Ritch R., Shields M.B., Krupin T., The Glaucomas. 1996;887-897 Mosby, St. Louis, MO.
48. Singh S., Tang H.K., Lee J.Y., Saunders G.F. Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants. J. Biol. Chem. 273:1998;21531-21541.
49. Singh S., Stellrecht C.M., Tang H.K., Saunders G.F. Modulation of PAX6 homeodomain function by the paired domain. J. Biol. Chem. 275:2000;17306-17313.
50. Singh S., Chao L.Y., Mishra R., Davies J., Saunders G.F. Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum. Mol. Genet. 10:2001;911-918.
51. Sivak J.M., Mohan R., Rinehart W.B., Xu P.X., Maas R.L., Fini M.E. Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B. Dev. Biol. 222:2000;41-54.
52. Smith R.S., Zabaleta A., Savinova O.V., John S.W. The mouse anterior chamber angle and trabecular meshwork develop without cell death. BMC Dev. Biol. 1:2001;3.
53. St Onge L., Sosa-Pineda B., Chowdhury K., Mansouri A., Gruss P. Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature. 387:1997;406-409.
54. Swiderski R.E., Ross J.L., Fingert J.H., Clark A.F., Alward W.L., Stone E.M., Sheffield V.C. Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest. Ophthalmol. Vis. Sci. 41:2000;3420-3428.
55. Tamm E., Russell P., Epstein D.L., Johnson D.H., Piatigorsky J. Modulation of Myocilin/TIGR expression in human trabecular meshwork. Invest. Ophthalmol. Vis. Sci. 40:1999;2577-2582.
56. Tamm E.R., Russell P., Piatigorsky J. Development and characterization of an immortal and differentiated murine trabecular meshwork cell line. Invest. Ophthalmol. Vis. Sci. 40:1999;1392-1403.
57. Tang H.K., Chao L.Y., Saunders G.F. Functional analysis of paired box missense mutations in the PAX6 gene. Hum. Mol. Genet. 6:1997;381-386.
58. Tomarev S.I., Tamm E.R., Chang B. Characterization of the mouse myoc/tigr gene. Biochem. Biophys. Res. Commun. 245:1998;887-893.
59. Ton C.C., Hirvonen H., Miwa H., Weil M.M., Monaghan P., Jordan T., van Heyningen V., Hastie N.D., Meijers-Heijboer H., Drechsler M. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 67:1991;1059-1074.
60. Ton C.C., Miwa H., Saunders G.F. Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. Genomics. 13:1992;251-256.
61. Trainor P.A., Tam P.P. Cranial paraxial mesoderm and neural crest cells of the mouse embryo: co-distribution in the craniofacial mesenchyme but distinct segregation in branchial arches. Development. 121:1995;2569-2582.
62. Walther C., Gruss P. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development. 113:1991;1435-1449.
63. Walton D.S. Unusual pediatric glaucomas. Epstein D.L., Chandler and Grant's Glaucoma. 1997;623-638 Williams and Wilkins, Baltimore, MD.
64. Zhang W., Cveklova K., Oppermann B., Kantorow M., Cvekl A. Quantitation of PAX6 and PAX6(5a) transcript levels in adult human lens, cornea, and monkey retina. Mol. Vis. 7:2001;1-5.