Genetic aspects of embryonic eye development in vertebrates

Developmental Genetics

Volumn 18, Issue 3, 1996, Pages 181-197

  Graw, Jochen ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

development; Eye; gene; induction; mutation

Indexed keywords

CYTOSKELETON PROTEIN; GROWTH FACTOR; STRUCTURAL PROTEIN; TRANSCRIPTION FACTOR;

ANIRIDIA; DROSOPHILA; EMBRYO DEVELOPMENT; EYE DEVELOPMENT; GENE MUTATION; GENETICS; HUMAN; LENS; MICROPHTHALMIA; MOUSE; NONHUMAN; OPTIC DISK CUP; OPTIC NERVE; PRIORITY JOURNAL; RETINA DEVELOPMENT; RETINA GANGLION CELL; RETINA TUMOR; REVIEW; TUMOR SUPPRESSOR GENE; VERTEBRATE;

ANIMALS; DROSOPHILA; EMBRYONIC INDUCTION; EYE; GENES; HUMANS; MICE; MUTATION; VERTEBRATES;

EID: 0029929286     PISSN: 0192253X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1520-6408(1996)18:3<181::AID-DVG1>3.0.CO;2-5     Document Type: Review

References (146)

1. Aarts HJM, Peek R, van der Logt P, Lubsen NH, Schoenmakers JGG (1988): The expression of rat crystallin genes in vivo and in vitro. In Piatigorsky J, Shinohara T, Zelenka P (eds): "Molecular Biology of the Eye: Genes, Vision, and Ocular Disease." New York: Alan R. Liss, Inc., pp 229-237.
2. Alemany J, Girbau M, Bassas L, de Pablo F (1990): Insulin receptors and insulin-like growth factor I receptors are functional during organogenesis of the lens. Mol Cell Endocrinol 74:155-162.
3. Arnold DR, Moshayedi P, Schoen TJ, Jones BE, Chader GJ, Waldbillig RJ (1993): Distribution of IGF-I and -II, IGF binding proteins (IGFBPs) and IGFBP mRNA in ocular fluids and tissues: Potential sites of synthesis of IGFBPs in aqueous and vitreous. Exp Eye Res 56:555-565.
4. Beebe DC, Feagans DE, Jebens HAH (1980): Lentropin: A factor in vitreous humor which promotes lens fiber cell differentiation. Proc Natl Acad Sci USA 77:490-493.
5. Beebe DC, Silver MH, Belcher KS, van Wyk JJ, Svoboda ME, Zelenka PS (1987): Lentropin, a protein that controls lens fiber formation, is related functionally and immunologically to the insulin-like growth factors. Proc Natl Acad Sci USA 84:2327-2330.
6. Brakenhoff RH, Aarts HJM, Reek FH, Lubsen NH, Schoenmakers JGG (1990): Human γ-crystallin genes: A gene family on its way to extinction. J Mol Biol 216:519-532.
7. Brakenhoff RH, Henskens HAM, van Rossum MWPC, Lubsen NH, Schoenmakers JGG (1994): Activation of the γE-crystallin pseudogene in the human hereditary. Coppock-like cataract. Hum Mol Genet 3:279-283.
8. Breitman ML, Clapoff S, Rossant J, Tsui L-C, Glode LM, Maxwell IH, Bernstein A (1987): Genetic ablation: Targeted expression of a toxin gene causes microphthalmia in transgenic mice. Science 238:1563-1565.
9. Breitman ML, Bryce DM, Giddens E, Clapoff S, Goring D, Tsui L-C, Klintworth GK, Bernstein A (1989): Analysis of lens cell fate and eye morphogenesis in transgenic mice ablated for cells of the lens lineage. Development 106:457-463.
10. Bryce DM, Liu Q, Khoo W, Tsui L-C, Breitman ML (1993): Progressive and regressive fate of lens tumors correlates with subtle differences in transgene expression in γF-crystallin-SV40 antigen transgenic mice. Oncogene 8:1611-1620.
11. Capetanaki Y, Smith S, Heath JP (1989): Overexpression of the vimentin gene in transgenic mice inhibits normal lens cell differentiation. J Cell Biol 109:1653-1664.
12. Carlson BM (1994): "Human Embryology and Developmental Biology." St. Louis: CV Mosby.
13. Carter JM, Hutcheson AM, Quinlan RA (1995): In vitro studies on the assembly properties of the lens proteins CP49, CP115: Coassembly with α-crystallin but not with vimentin. Exp Eye Res 60:181-192.
14. Cartier M, Breitman ML, Tsui L-C (1992): A frameshift mutation in the γE-crystallin gene of the Elo mouse. Nature Genet 2:42-45.
15. Center EM, Polizotto RS (1992): Etiology of the developing eye in myelencephalic blebs (my) mice. Histol Histopathol 7:231-236.
16. Chase HB (1944): Studies on an anophthalmic strain of mice. IV. A second major gene for anophthalmia. Genetics 29:264-269.
17. Cvekl A, Sax CM, Bresnick EH, Piatigorsky J (1994): A complex array of positive and negative elements regulates the chicken αA-crystallin gene: Involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins. Mol Cell Biol 14:7363-7376.
18. Cvekl A, Kashanchi F, Sax CM, Brady JN, Piatigorsky J (1995a): Transcriptional regulation of the mouse αA-crystallin gene: Acti- vation dependent on a cyclic AMP-responsive element (DE1/CRE) and a Pax-6-binding site. Mol Cell Biol 15:653-660.
19. Cvekl A, Sax CM, Li X, McDermott JB, Piatigorsky J (1995b): Pax-6 and lens-specific transcription of the chicken δ1-crystallin gene. Proc Natl Acad Sci USA 92:4681-4685.
20. Davisson MT, Eicher EM, Green MC (1976): Genes on chromosomes 3 of the mouse. J Hered 67:155-156.
21. den Dunnen JT, van Neck JW, Cremers FPM, Lubsen NH, Schoenmakers JGG (1989): Nucleotide sequence of the rat γ-crystallin gene region and comparison with an orthologous human region. Gene 78:201-213.
22. Dollé P, Price M, Duboule D (1992): Expression of the murine Dlx-1 homeobox gene during facial, ocular and limb development. Differentiation 49:93-99.
23. Echelard Y, Epstein DJ, St-Jacques B, Shen L, Mohler J, McMahon JA, McMahon AP (1993): Sonic hedgehoc, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell 75:1417-1430.
24. Egwuagu CE, Sztein J, Chan C-C, Mahdi R, Nussenblatt RB, Chepelinsky AB (1994): γInterferon expression disrupts lens and retinal differentiation in transgenic mice. Dev Biol 166:557-568.
25. Ehling UH (1991): Genetic risk assessment. Annu Rev Genet 25:255-280.
26. Everett CA, Glenister PH, Taylor DM, Lyon MF, Kratochvilova-Loester J, Favor J (1994): Mapping of six dominant cataract genes in the mouse. Genomics 20:429-434.
27. Favor J (1995): Mutagenesis and human genetic disease: Dominant mutation frequencies and a characterization of mutational events in mice and humans. Environ Mol Mutagen 25(Suppl 26):81-87.
28. Favor J, Pretsch W (1990): Genetic localization and phenotypic expression of X-linked cataract (Xcat) in mus musculus. Genet Res Camb 56:157-162.
29. Franz T, Besecke A (1991): The development of the eye in homozygotes of the mouse mutant Extra-toes. Anat Embryol 184:355-361.
30. Fromm L, Overbeek PA (1995): Role of Rb in differentiation of the ocular lens. Invest Ophthalmol Vis Sci 36:1995, S886.
31. Fromm L, Shawlot W, Gunning K, Butel JS, Overbeek PA (1994): The retinoblastoma protein-binding region of simian virus 40 large T antigen alters cell cycle regulation in lenses of transgenic mice. Mol Cell Biol 14:6743-6754.
32. Fujiwara M, Uchida T, Osumi-Yamashita N, Eto K (1994): Uchida rat (rSey): a new mutant rat with craniofacial abnormalities Tegembling those of the mouse Sey mutant. Differentiation 57:31-38.
33. Gilbert SF (1994): "Developmental Biology." 4th Ed. Sunderland, MA: Sinauer.
34. Glaser T, Walton DS, Maas RL (1992): Genomic structure, evolutionary conservation and aniridia mutations in the human Pax6 gene. Nature Genet 2:232-238.
35. Glaser T, Jepeal L, Edwards JG, Young SR, Favor J, Maas RL (1994): Pax6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nature Genet 7:463-471.
36. Grainger RM (1992): Embryonic lens induction: Shedding light on vertebrate tissue determination. Trends Genet 10:349-355.
37. Graw J, Coban L, Liebstein A, Werner T (1991): Murine γE-crystallin is distinct from murine γ2-crystallin. Gene 104:265-270.
38. Graw J, Kratochvilova J, Löbke A, Reitmeir P, Schärfer E, Wulff A (1989): Characterization of Scat (Suture Cataract), a dominant cataract mutation in mice. Exp Eye Res 49:469-477.
39. Graw J, Werner T, Merkle S, Reitmeir P, Schäffer E, Wulff A (1990): Histological and biochemical characterization of the murine cataract mutant Nop. Exp Eye Res 50:449-456.
40. Graw J, Liebstein A, Pietrowski D, Schmitt-John T, Werner T (1993): Genomic sequences of murine γB- and γC-crystallin-encoding genes: promoter analysis and complete evolutionary pattern of mouse, rat and human γ-crystallins. Gene 136:145-156.
41. Griep AE, Kuwabara T, Lee EJ, Westphal H (1989): Perturbed development of the mouse lens by polyomavirus large T antigen does not lead to tumor formation. Genes Dev 3:1075-1085.
42. Griffin CS, Shiels A (1992): Localisation of the gene for the major intrinsic protein of eye-lens-fibre cell membranes to mouse chromosome 10 by in situ hybridisation. Cytogenet Cell Genet 59:300-302.
43. Grimes PA, Favor J, Koeberlein B, Silvers WK, Fitzgerald PG, Stambolian D (1993): Lens development in a dominant X-linked congenital cataract of the mouse. Exp Eye Res 57:587-594.
44. Groenen PJTA, Merck KB, de Jong WW, Bloemendal H (1994): Structure and modifications of the junior chaperone α-crystallin: From lens transparency to molecular pathology. Eur J Biochem 225:1-19.
45. Halder G, Callaerts P, Gehring WJ (1995): Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 267:1788-1792.
46. Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen R (1994): Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peter's anomaly. Nature Genet 6:168-173.
47. Hanson I, van Heyningen V (1995): Pax6: more than meets the eye. Trends Genet 11:268-272.
48. Harris MJ, Juriloff DM, Biddle FG (1984): Cortisone cure of the lidgap defect in fetal mice: a dose-response and time-response study. Teratology 29:287-295.
49. Hawes NL, Roderick TH (1990): Linkage of ocular retardation (or). Mouse Genome 87:93.
50. Hay ED (1986): Development of the vertebrate cornea. Int Rev Cytol 63:263-322.
51. Heberlein, U, Singh, CM, Luk, AY, Donohoe, TJ. (1995): Growth and differentiation in the Drosophila eye coordinated by hedgehog. Nature 373:709-715.
52. Helin K, Harlow E (1993): The retinoblastoma protein as a transcriptional repressor. Trends Cell Biol 3:43-46.
53. Hertwig P (1942): Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstammungs Vererbungsl 80:220-246.
54. Hill RE, Favor J, Hogan BLM, Ton CCT, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V (1991): Mouse Small eye results from mutations in a paired-like homeobox-containing gene. Nature 354:522-525.
55. Hogen BLM, Horsburgh G, Cohen J, Hetherington CM, Fisher G, Lyon MF (1986): 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 97:95-110.
56. J mutation contains an intragenic deletion of the Gli3 gene. Nature Genet 3:241-246.
57. Hyuga M, Kodama R, Eguchi G (1993): Basic fibroblast growth factor as one of the essential factors regulating lens transdifferentiation of pigmented epithelial cells. Int J Dev Biol 37:319-326.
58. Johnson RL, Tabin C (1995): The long and short hedgehog signaling. Cell 83:313-316.
59. Ml fetal mice by thyroxine. Teratology 32:73-86.
60. Kaufman MH (1992): "The Atlas of Mouse Development." London: Academic Press.
61. Kaur S, Key B, Stock J, McNeish JD, Akeson R, Potter SS (1989): Targeted ablation of α-crystallin-synthesizing cells produces lens-deficient eyes in transgenic mice. Development 105:613-619.
62. Keller SA, Jones JM, Boyle A, Barrow LL, Killen PD, Green DG, Kapousta NV, Hitchcock PF, Swank RT, Meisler MH (1994): Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus. Genomics 23:309-320.
63. Kerscher S, Church RL, Boyd Y, Lyon MF (1995): Mapping of four mouse genes encoding lens-specific structural, gap junction, and integral membrane proteins: Crybal (CrystallinβA3/A1), Crybb2 (CrystallinβB2), Gja8 (MP70), and Lim2 (MP19). Genomics 29:445-450.
64. Key B, Liu L, Potter SS, Kaur S, Akeson R (1992): Lens structures exist transiently in development of transgenic mice carrying an α-crystallin-diphtheria toxin hybrid gene. Exp Eye Res 55:357-367.
65. Kouzarides T (1993): Transcriptional regulation by the retinoblastoma protein. Trends Cell Biol 3:211-213.
66. Kratochvilova J, Ehling UH (1979): Dominant cataract mutations induced by γ-irradiation of male mice. Mutat Res 63:221-223.
67. Kratochvilova J, Favor J (1992): Allelism tests of 15 dominant cataract mutations in mice. Genet Res Camb 59:199-203.
68. Krauss S, Johansen T, Korzh V, Moens U, Ericson JU, Fjose A (1991): Zebrafish pax[zf-a]: A paired box containing gene expressed in the neural tube. EMBO J 10:3609-3619.
69. Kuwabara T, Imaizumi M (1974): Denucleation process of the lens. Invest Ophthalmol Vis Sci 13:973-981.
70. Li H-S, Yang J-M, Jacobson RD, Pasko D, Sundin O (1994): Pax-6 is first expressed in a region of ectoderm anterior to the early neural plate: Implications for stepwise determination of the lens. Dev Biol 162:181-194.
71. Liu ISC, Chen J-d, Ploder L, Vidgen D, van der Kooy D, Kalnins VI, McInnes RR (1994a): Developmental expression of a novel murine homeobox gene (Chx10): Evidence for roles in determination of the neuroretina and inner nuclear layer. Neuron 13:377-393.
72. Liu J, Hales AM, Chamberlain CG, McAvoy JW (1994b): Induction of cataract-like changes in rat lens epithelial explants by transforming growth factor β. Invest Ophthalmol Vis Sci 35:388-401.
73. Liu Q, Shalaby F, Puri MC, Tang S, Breitman ML (1994c): Novel zinc finger proteins that interact with the mouse γF-crystallin promoter and are expressed in the sclerotome during early somitogenesis. Dev Biol 165:165-177.
74. Löster J, Graw J, Neuhäuser-Klaus A, Schmitt-John T (1994a): A new murine cataract gene on chromosome 10. Exp Eye Res 59(Suppl 1):S152.
75. Löster J, Pretsch W, Sandulache R, Schmitt-John T, Lyon MF, Graw J (1994b): Close linkage of the dominant cataract mutations (Cat-2) with Idh-1 and Cryge on mouse chromosome 1. Genomics 23:240-242.
76. Lovicu FJ, McAvoy JW (1993): Localization of acidic fibroblast growth factor, basic fibroblast growth factor, and heparan sulphate proteoglycan in rat lens: implications for lens polarity and growth patterns. Invest Ophthalmol Vis Sci 34:3355-3365.
77. Luettke NC, Qui TH, Pfeiffer RL, Oliver P, Smithies O, Lee DC (1993): TGFα deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 73:263-278.
78. Luo G, Hofmann C, Bronckers ALJJ, Soho M, Bradley A, Karsenty G (1995): BMP7 is an inducer of Nephrogenesis, and is also required for eye development and skeletal patterning. Genes Dev 9:2808-2820.
79. Lyon MF, Kirby MC (1995): Mouse chromosome atlas. Mouse Genome 93:23-66.
80. Lyons KM, Hogan BLM, Robertson EJ (1995): Colocalization of BMP7 and BMP2 RNAs suggests that these factors cooperatively mediate tissue interactions during murine development. Mech Dev 50:71-83.
81. Maandag ECR, van der Valk M, Vlaar M, Feltkamp C, O'Brien J, van Roon M, van der Lugt N, Berns A, te Riele H (1994): Developmental rescue of an embryonic-lethal mutation in the retinoblastoma gene in chimeric mice. EMBO J 13:4260-4268.
82. Mahon KA, Chepelinsky AB, Khillan JS, Overbeek PA, Piatigorsky J, Westphal H (1987): Oncogenesis of the lens in transgenic mice. Science 235:1622-1628.
83. Martha A, Strong LC, Ferrell RE, Saunders GF (1995): Three novel aniridia mutations in the human PAX6 gene. Hum Mutat 6:44-49.
84. Martin P, Carriere C, Dozier C, Quatannens B, Mirabel M-A, Vandenbunder B, Stehelin D, Saule S (1992): Characterization of a paired box- and homeobox-containing quail gene (Pax-QNR) expressed in the neuroretina. Oncogene 7:1721-1728.
85. Masaki S, Watanabe T (1994): The gene Bfspl for the lens fiber cell beaded-filament structural protein CP94 maps to mouse chromosome 2. Genomics 22:449-450.
86. Massagué J (1991): A helping hand from proteoglycans. Curr Biol 1:117-119.
87. Matsuo T, Osumi-Yamashita N, Noji S, Ohuchi H, Koyama E, Myoki F, Matsuo N, Taniguchi S, Doi H, Iseki S, Ninomiya Y, Fujiwara M, Watanabe T, Eto K (1993): A mutation in the Pax-6 gene in rat small eye is associated with impaired migration of midbrain crest cells. Nature Genet 3:299-304.
88. Merdes A, Brunkener M, Hostmann H, Georgatos SD (1991): Filensin: A new vimentin-binding polymerization-competent, and membrane associated protein of the lens fiber cell. J Cell Biol 115:397-410.
89. Merin S (1991): "Inherited Eye Diseases." New York: Marcel Dekker.
90. Mirzayans F, Pearce WG, MacDonald IM, Walter MA (1995): Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 57:539-548.
91. Monaghan AP, Davidson DR, Sime C, Graham E, Baldock R, Bhattacharya SS, Hill RE (1991): The Msh-like homeobox genes define domains in the development vertebrate eye. Development 112:1053-1061.
92. Moormann RJM, den Dunnen JT, Mulleners L, Andreoli P, Bloemendal H, Schoenmakers JGG (1983): Strict co-linearity of genetic and protein folding domains in an intragenically duplicated rat lens γ-crystallin gene. J Mol Biol 171:353-368.
93. Morgenbesser SD, Williams BO, Jacks T, dePinho RA (1994): p53-dependent apoptosis produced by Rb-deficiency in the developing mouse lens. Nature 317:72-74.
94. Mörner CT (1893): Untersuchungen der Proteinsubstanzen in den lichtbrechenden Medien des Auges. Z Physiol Chem 18:61-106.
95. Fr) mouse congenital cataract. Genet Res Camb 49:235-238.
96. Nakamura T, Donovan DM, Hamada K, Sax CM, Norman B, Flanagan JR, Ozato K, Westphal H, Piatigorsky J (1990): Regulation of the mouse αA-crystallin gene: Isolation of a cDNA encoding a protein that binds to a cis sequence motif shared with the major histocompatibility complex class I gene and other genes. Mol Cell Biol 10:3700-3708.
97. Nicholl ID, Quinlan RA (1994): Chaperone activity of α-crystallin modulates intermediate filament assembly. EMBO J 13:945-953.
98. Nornes HO, Dressler GR, Knapik EW, Deutsch U, Gruss P (1990): Spatially and temporally restricted expression of Pax2 during murine neurogenesis. Development 109:797-809.
99. Overbeek PA, Fromm L (1995): Bcl-2 inhibits p53-dependent cell death in the ocular lens of transgenic mice. Invest Ophthalmol Vis Sci 36:S615.
100. Pan H, Griep AE (1994): Altered cell cycle regulation in the lens of HPV-16 E6 or E7 transgenic mice: Implications for tumor suppressor gene function in development. Genes Dev 8:1285-1299.
101. Parr BA, Shea MJ, Vassileva G, McMahon A (1993): Mouse Wntt gene exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development 119:247-261.
102. Pau H (1992): "Lehrbuch der Augenheilkunde." Stuttgart: Gustav Fischer Verlag.
103. Pelton RW, Saxena B, Jones M, Moses HL, Gold LI (1991): Immunohistochemical localization of TGFβ1, TGFβ2, and TGFβ3, in the mouse embryo: Expression patterns suggest multiple roles during embryonic development. J Cell Biol 115:1091-1105.
104. Perez-Castro AV, Tran VT, Nguyen-Huu MC (1993): Defective lens fiber differentiation and pancreatic tumorigenesis caused by ectopic expression of the cellular retinoic acid-binding protein. I. Development 119:363-375.
105. Peters J, Selley R, Cocking Y (1995): Mouse gene list. Mouse Genome 93:184-357.
106. Pichel JG, Lakso M, Westphal H (1993): Timing of SV40 oncogene activation by site-specific recombination determines subsequent tumor progression during murine lens development. Oncogene 8:3333-3342.
107. Piatigorsky J (1981): Lens differentiation in vertebrates - A review of cellular and molecular features. Differentiation 19:134-153.
108. Piatigorsky J (1992): Lens crystallins. J Biol Chem 267:4277-4280.
109. Pietrowski D, Durante MJ, Liebstein A, Schmitt-John T, Werner T, Graw J (1994): α-Crystalling are involved in specific interactions with the murine γD/E/F-crystallin-encoding gene. Gene 144:171-178.
110. Pituello F, Yamada G, Gruss P (1995): Activin A inhibits Pax-6 ex- pression and perturbs cell differentiation in the developing spinal cord in vitro. Proc Natl Acad Sci USA 92:6952-6956.
111. Plaza S, Grevin D, MacLeod K, Stehelin D, Saule S (1994): Pax-QNR/Pax-6, a paired- and homeobox-containing protein, recognizes Ets binding sites and can alter the transactivating properties of Ets transcription factors. Gene Expr 4:43-52.
112. Plaza S, Turque N, Dozier C, Bailly M, Saule S (1995): C-Myb acts as transcriptional activator of the quail PAX6 (PAX-QNR) promoter through two different mechanisms. Oncogene 10:329-340.
113. Ramaekers FCS, Bloemendal H (1981): Cytoskeletal and contractile structures in lens cell differentiation. In Bloemendal H (ed): "Molecular and Cellular Biology of the Eye Lens." New York: John Wiley & Sons, pp 85-136.
114. Richardson J, Cvekl A, Wistow G (1995): Pax-6 is essential for lens-specific expression of ζ-crystallin. Proc Natl Acad Sci USA 92:4676-4680.
115. Robinson ML, Overbeek PA (1995): Inhibition of fiber cell differentiation in transgenic mice expressing a dominant negative FGFR1 receptor in the lens. Invest Ophthalmol Vis Sci 36:8261.
116. Robinson ML, Overbeek PA, Verran DJ, Grizzle WE, Stockards CR, Friesel R, Maciag T, Thompson JA (1995): Extracellular FGF-1 acts as a lens differentiation factor in transgenic mice. Development 121:505-514.
117. Rothenspieler UW, Dressier GR (1993): Pax-2 is required for mesenchyme-to-epithelium conversion during kidney development. Development 119:711-720.
118. nop mutant mice. Graefes Arch Clin Exp Ophthalmol 233:795-800.
119. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont MEM, Sullivan MJ, Dobyns WB, Eccles MR (1995): Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nature Genet 9:358-364.
120. Sax CM, Farrell FX, Zehner ZE, Piatigorsky J (1990): Regulation of vimentin gene expression in the ocular lens. Dev Biol 139:56-64.
121. Schatteman GC, Morrison-Graham K, van Koppen A, Weston JA, Bowen-Pope DF (1992): Regulation and role of PDGF receptor α-subunit expression during embryogenesis. Development 115:123-131.
122. Shiels A (1995): The gene for lens major intrinsic protein (Mip) is mutated in the Cat mouse. Invest Ophthalmol Vis Sci 36:S878.
123. Shiels A, Griffin CS (1993): Aberrant expression of the gene for lens major intrinsic protein in the CAT mouse. Curr Eye Res 12:913-921.
124. Silver J, Robb RM (1979): Studies on the development of the eye cup and optic nerve in normal mice and in mutants with congenital optic nerve aplasia. Dev Biol 68:175-190.
125. Simeone A, Acampora D, Mallamaci A, Stornaiuolo A, D'Apice MR, Nigro V, Boncinelli E (1993): A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo. EMBO J 12:2735-2747.
126. Smolich BD, Tarkington SK, Saha MS, Grainger RM (1994): Xenopus γ-crystallin gene expression: Evidence that the γ-crystallin gene family is transcribed in lens and nonlens tissues. Mol Cell Biol 14:1355-1363.
127. Spemann H (1924): Über Organisatoren in der tierischen Entwicklung. Naturwissenschaften 48:1092-1094.
128. Stadler HS, Solursh M (1994): Characterization of the homeobox-containing gene GH6 identifies novel regions of homeobox gene expression in the developing chick embryo. Dev Biol 161:251-262.
129. Stambolian D, Favor J, Silvers W, Avner P, Chapman V, Zhou E (1994): Mapping of the X-linked cataract (Xcat) mutation, the gene implicated in the Nance Horan Syndrome, on the mouse X Chromosome. Genomics 22:377-380.
130. Stein KF, Norris BE, Mason J (1967): Development of an open eyelid mutant in Mus musculus. Dev Biol 16:315-330.
131. Steingrimsson E, Moore KJ, Lamoreux ML, Ferré-D'Amaré A, Burley SK, Zimring DCS, Skow LC, Hodgkinson CA, Arnheiter H, Cope- land NG, Jenkins NA (1994): Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Nature Genet 8:256-263.
132. Tassabehji M, Newton VE, Read AP (1994): Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 8:251-255.
133. Tini M, Otulakowski G, Breitman ML, Tsui L-C, Giguère V (1993): An everted repeat mediates retinoic acid induction of the γF-crystallin gene: evidence of a direct role for retinoids in lens development. Genes Dev 7:295-307.
134. Tréton JA, Jacquemin E, Courtois Y, Jeanny J-J (1991): Differential localization by in situ hybridization of specific crystallin transcripts during mouse lens development. Differentiation 47:143-147.
135. van Leen RW, Breuer ML, Lubsen NH, Schoenmakers JGG (1987): Developmental expression of crystallin genes: In situ hybridization reveals a differential localization of specific mRNAs. Dev Biol 123:338-345.
136. Varnum DS, Fox SC (1981): Head blebs: a new mutation on chromosome 4 of the mouse. J Hered 72:293.
137. Vortkamp A, Gessler M, Grzeschik K-H (1991): Gli3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 352:539-540.
138. Vrensen GFJM, Graw J, de Wolf A (1991): Nuclear breakdown during terminal differentiation of primary lens fibres in mice: A transmission electron microscopic study. Exp Eye Res 52:647-659.
139. Walterhouse D, Ahmed M, Slusarski D, Kalamaras J, Boucher D, Holmgren R, Iannaccone P (1993): Gli, a zinc finger transcription factor and oncogene, is expressed during normal mouse development. Dev Dynam 196:91-102.
140. Walther C, Gruss P (1991): Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 113:1435-1449.
141. Webster EH Jr, Silver AF, Gonsalves NI (1984): The extracellular matrix between the optic vesicle and presumptive lens during lens morphogenesis in an anophthalmic strain of mice. Dev Biol 103:142-150.
142. Wistow G (1993): Lens crystallins: gene recruitment and evolutionary dynamism. Trends Biochem Sci 18:301-306.
143. Yamamoto M, Schwarting G (1991): The formation of axonal pathways in developing cranial nerves. Neurosci Res 11:229-260.
144. Zhang Y, Emmons SW (1995): Specification of sense-organ identity by a Caenorhabditis elegans Pax-6 homologue. Nature 377:55-59.
145. Zwaan J, Webster EH Jr (1984): Histochemical analysis of extracellular matrix material during embryonic mouse lens morphogenesis in an aphakic strain of mice. Dev Biol 104:380-389.
146. Fr gene. Exp Eye Res 8:161-167.