Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle

Development

Volumn 129, Issue 19, 2002, Pages 4535-4545

  Bäumer, Nicole ^a   Marquardt, Till ^a   Stoykova, Anastassia ^a   Ashery Padan, Ruth ^a   Chowdhury, Kamal ^a   Gruss, Peter ^a  

^a MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

Author keywords

Autoregulation; Axis formation; Axon guidance; BF 1; BF 2; Enhancer; Mouse; Pax6; Retina; Superior colliculus

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL POPULATION; CELL SHAPE; CONTROLLED STUDY; EMBRYO; ENHANCER REGION; EYE DEVELOPMENT; GENE ACTIVITY; GENE DELETION; GENETIC CONSERVATION; IN VIVO STUDY; INTRON; LATERAL GENICULATE NUCLEUS; MOUSE; NONHUMAN; OPTIC DISK CUP; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REGULATORY MECHANISM; RETINA DEVELOPMENT; RETINA GANGLION CELL; SUPERIOR COLLICULUS; VISUAL SYSTEM;

ANIMALS; AXONS; BODY PATTERNING; BRAIN; ENHANCER ELEMENTS (GENETICS); EYE PROTEINS; GENE EXPRESSION; HOMEODOMAIN PROTEINS; MICE; MICE, TRANSGENIC; OPTIC NERVE; PAIRED BOX TRANSCRIPTION FACTORS; REGULATORY SEQUENCES, NUCLEIC ACID; REPRESSOR PROTEINS; RETINA; RETINAL GANGLION CELLS; TRANSCRIPTION FACTORS; UP-REGULATION;

ANIMALIA; NASO;

EID: 0036796862     PISSN: 09501991     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (65)

1. Altmann, C. R., Chow, R. L., Lang, R. A. and Hemmati-Brivanlou, A. (1997). Lens induction by Pax-6 in Xenopus laevis. Dev. Biol. 185, 119-123.
2. Ashery-Padan, R., Marquardt, T., Zhou, X. and Gruss, P. (2000). Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye. Genes Dev. 14, 2701-2711.
3. Barbieri, A. M., Lupo, G., Bulfone, A., Andreazzoli, M., Mariani, M., Fougerousse, F., Consalez, G. G., Borsani, G., Beckmann, J. S., Barsacchi, G. et al. (1999). A homeobox gene, Vax2, controls the patterning of the eye dorsoventral axis. Proc. Nat. Acad. Sci. USA 96, 10729-10734.
4. Bernier, G., Panitz, F., Zhou, X., Hollemann, T., Gross, P. and Pieler, T. (2000). Expanded retina territory by midbrain transformation upon overexpression of Six6 (Optx2) in Xenopus embryos. Mech. Dev. 93, 59-69.
5. Bernier, G., Vukovich, W., Neidhardt, L., Herrmann, B. G. and Gruss, P. (2001). Isolation and characterization of a downstream target of Pax6 in the mammalian retinal primordium. Development 128, 3987-3994.
6. Bertuzzi, S., Hindges, R., Mui, S. H., O'Leary, D. D. and Lemke, G. (1999). The homeodomain protein vax1 is required for axon guidance and major tract formation in the developing forebrain. Genes Dev. 13, 3092-3105.
7. Callahan, C. A. and Thomas, J. B. (1994). Tau-beta-galactosidase, an axon-targeted fusion protein. Proc. Natl. Acad. Sci. USA 91, 5972-5976.
8. Cheng, H. J., Nakamoto, M., Bergemann, A. D. and Flanagan, J. G. (1995). Complementary gradients in expression and binding of ELF-1 and Mek4 in development of the topographic retinotectal projection map. Cell 82, 371-381.
9. Chow, R. L., Altmann, C. R., Lang, R. A. and Hemmati-Brivanlou, A. (1999). Pax6 induces ectopic eyes in a vertebrate. Development 126, 4213-4222.
10. Collinson, J. M., Quinn, J. C., Buchanan, M. A., Kaufman, M. H., Wedden, S. E., West, J. D. and Hill, R. E. (2001). Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc. Natl. Acad. Sci. USA 98, 9688-9693.
11. Dräger, U. C. and Olsen, J. F. (1980). Origins of crossed and uncrossed retinal projections in pigmented and albino mice. J. Comp. Neurol. 191, 383-412.
12. Drescher, U., Kremoser, C., Handwerker, C., Loschiner, J., Noda, M. and Bonhoeffer, F. (1995). In vitro guidance of retinal ganglion cell axons by RAGS, a 25 kDa tectal protein related to ligands of Eph receptor trypsine kinases. Cell 82, 359-370.
13. Ericson, J., Rashbass, P., Schedl, A., Brenner-Morton, S., Kawakami, A., van Heyningen, V., Jessell, T. M. and Briscoe, J. (1997). Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling. Cell 90, 169-180.
14. Feldheim, D. A., Kim, Y. L, Bergmann, A. D., Frisen, J., Barbacid, M. and Flanagan, J. G. (2000). Genetic analysis of ephrin-A2 and ephrin-A5 shows their requirement in multiple aspects of retinocollicular mapping. Neuron 25, 563-574.
15. Gehring, W. J. and Ikeo, K. (1999). Pax 6: mastering eye morphogenesis and eye evolution. Trends Genet. 15, 371-377.
16. Glaser, T., Lane, J. and Housman, D. (1990). A mouse model of the aniridia-Wilms tumor deletion syndrome. Science 250, 823-827.
17. Glaser, T., Jepeal, L., Edwards, J. G., Young, S. R., Favor, J. and Maas, R. L. (1994). PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat. Genet. 7, 463-471.
18. Godement, P., Salaun, J. and Imbert, M. (1984). Prenatal and postnatal development of retinogeniculate and retinocillicular projections in the mouse. J. Comp. Neurol. 230, 552-575.
19. Goodhill, G. J. and Richards, L. J. (1999). Retinotectal maps: molecules, models and misplaced data. Trends Neurosci. 22, 529-534.
20. Grindley, J. C., Davidson, D. R. and Hill, R. E. (1995). The role of Pax-6 in eye and nasal development. Development 121, 1433-1442.
21. Grindley, J. C., Hargett, L. K., Hill, R. E., Ross, A. and Hogan, B. L. (1997). Disruption of PAX6 function in mice homozygous for the Pax6Sey-1Neu mutation produces abnormalities in the early development and regionalization of the diencephalon. Mech. Dev. 64, 111-126.
22. Gruss, P. and Walther, C. (1992). Pax in development. Cell 69, 719-722.
23. Halder, G., Callaerts, P. and Gehring, W. J. (1995). Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila. Science 267, 1788-1792.
24. Hallonet, M., Hollemann, T., Wehr, R., Jenkins, N. A., Copeland, N. G., Pieler, T. and Gruss, P. (1998). Vax1 is a novel homeobox-containing gene expressed in the developing anterior ventral forebrain. Development 125, 2599-2610.
25. Hallonet, M., Hollemann, T., Pieler, T. and Gruss, P. (1999). Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system. Genes Dev. 13, 3106-3114.
26. Hanson, I. M., Fletcher, J. M., Jordan, T., Brown, A., Taylor, D., Adams, R. J., Punnett, H. H. and van Heyningen, V. (1994). Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat. Genet. 6, 168-173.
27. Hatini, V., Tao, W. and Lai, E. (1994). Expression of winged helix genes, BF-1 and BF-2, define adjacent domains within the developing forebrain and retina. J. Neurobiol 25, 1293-1309.
28. Hill, R. E., Favor, J., Hogan, B. L., Ton, C. C., Saunders, G. F, Hanson, I. M., Prosser, J., Jordan, T., Hastie, N. D. and van Heyningen, V. (1991). Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature 354, 522-525.
29. Hogan, B., Beddington, R., Constantini, G. and Lacy, E. (1994). Manipulating the Mouse Embryo, 2nd edn. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press.
30. Holder, N. and Klein, R. (1999). Eph receptors and ephrins: effectors of morphogenesis. Development 126, 2033-2044.
31. Huh, S., Hatini, V., Marcus, R. C., Li, S. C. and Lai, E. (1999). Dorsal-ventral patterning defects in the eye of BF-1-deficient mice associated with a restricted loss of shh expression. Dev. Biol. 211, 53-63.
32. Hyatt, G. A., Schmitt, E. A., Marsh-Armstrong, N., McCaffery, P., Drager, U. C. and Dowling, J. E. (1996). Retinoic acid establishes ventral retinal characteristics. Development 122, 195-204.
33. Jordan, T., Hanson, I., Zaletayev, D., Hodgson, S., Prosser, J., Seawright, A., Hastie, N. and van Heyningen, V. (1992). The human PAX6 gene is mutated in two patients with aniridia. Nat. Genet. 1, 328-332.
34. Kammandel, B., Chowdhury, K., Stoykova, A., Aparicio, S., Brenner, S. and Gruss, P. (1999). Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity. Dev. Biol. 205, 79-97.
35. Kessel, M. and Gruss, P. (1991). Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid. Cell 67, 89-104.
36. Kioussi, C., O'Connell, S., St-Onge, L., Treier, M., Gleibermann, A. S., Gruss, P. and Rosenfeld, M. G. (1999). Pax6 is essential for establishing ventral-dorsal cell boundaries in pituitary gland development. Proc. Nat. Acad. Sci. USA 96, 14378-14382.
37. Kleinjan, D. A., Seawright, A., Schedl, A., Quinlan, R. A., Danes, S. and van Heyningen, V. (2001). Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. Hum. Mol. Genet. 10, 2049-2059.
38. Koshiba-Takeuchi, K., Takeuchi, J. K., Matsumoto, K., Momose, T., Uno, K., Hoepker, V., Ogura, K., Takahashi, N., Nakamura, H., Yasuda, K. and Ogura, T. (2000). Tbx5 and the retinotectum projection. Science 287, 134-137.
39. Lauderdale, J. D., Wilensky, J. S., Oliver, E. R., Walton, D. S. and Glaser, T. (2000). 3′ deletions cause Aniridia by preventing PAX6 gene expression. Proc. Natl. Acad. Sci. USA 97, 13755-13759.
40. Lund, R. D., Lund, J. S. and Wise, R. P. (1974). The organization of the retinal projection to the dorsal lateral geniculate nucleus in pigmented and albino rats. J. Comp. Neurol. 158, 383-404.
41. Marquardt, T., Ashery-Padan, R., Andrejewski, N., Scardigli, R., Guillemot, F. and Gruss, P. (2001). Pax6 is required for the multipotent state of retinal progenitor cells. Cell 105, 43-55.
42. Marquardt, T. and Pfaff, S. L. (2001). Cracking the transcriptional code for cell specification in the neural tube. Cell 106, 651-654.
43. Marquardt, T. and Gruss, P. (2002). Generating neuronal diversity in the retina: one for nearly all. Trends Neurosci. 25, 32-38.
44. Mombaerts, P., Wang, F., Dulac, C., Chao, S. K., Nemes, A., Mendelsohn, M., Edmondson, J. and Axel, R. (1996). Visualizing an olfactory sensory map. Cell 87, 675-686.
45. Mui, S. H., Hindges, R., O'Leary, D. D., Lemke, G. and Bertuzzi, S. (2002). The homeodomain protein Vax2 patterns the dorsoventral and nasotemporal axes of the eye. Development 129, 797-804.
46. O'Leary, D. D. and Wilkinson, D. G. (1999). Eph receptors and ephrins in neural development. Curr Opin. Neurobiol. 9, 65-73.
47. O'Leary, D. D. M., Yates, P. A. and McLaughlin, T. (1999). Molecular development of sensory maps: representing sights and smells in the brain. Cell 96, 255-269.
48. Oliver, G., Loosli, F., Koster, R., Wittbrodt, J. and Gruss, P, (1996). Ectopic lens induction in fish in response to the murine homeobox gene Six3. Mech. Dev. 60, 233-239.
49. Quiring, R., Walldorf, U., Kloter, U. and Gehring, W. J. (1994). Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. Science 265, 785-789.
50. Sakuta, H., Suzuki, R., Takahashi, H., Kato, A., Shintani, T., Iemura, S., Yamamoto, T. S., Ueno, N. and Noda, M. (2001). Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina. Science 293, 111-115.
51. Schedl, A., Ross, A., Lee, M., Engelkamp, D., Rashbass, P., van Heyningen, V. and Hastie, N. D. (1996). Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Cell 86, 71-82.
52. Schulte, D. and Cepko, C. L. (2000). Two homeobox genes define the domain of EphA3 expression in the developing chick retina. Development 127, 5033-5045.
53. Schulte, D., Furukawa, T., Peters, M. A., Kozak, C. A. and Cepko, C. L. (1999). Misexpression of the Emx-related homeobox genes cVax and mVax2 ventralizes the retina and perturbs the retinotectal map. Neuron 24, 541-553.
54. Schwarz, M., Cecconi, F., Bernier, G., Andrejewski, N., Kammandel, B., Wagner, M. and Gruss, P. (2000). Spatial specification of mammalian eye territories by reciprocal transcriptional repression of Pax2 and Pax6. Development 127, 4325-4334.
55. Simon, D. K. and O'Leary, D. D. M. (1992). Development of topographic order in the mammalian retinocollicular system. J. Neurosci. 12, 1212-1232.
56. St-Onge, L., Sosa-Pineda, B., Chowdhury, K., Mansouri, A. and Gruss, P. (1997). Pax6 is required for differentiation of glucagon-producing alpha-cells in mouse pancreas. Nature 387, 406-409.
57. Stoykova, A., Treichel, D., Hallonet, M. and Gruss, P. (2000). Pax6 modulates the dorsoventral patterning of the mammalian telencephalon. J. Neurosci. 20, 8042-8050.
58. Vetter, M. L. and Brown, N. L. (2001). The role of basic helix-loop-helix genes in vertebrate retinogenesis. Semin. Cell. Dev. Biol. 6, 491-498.
59. Wagner, E., McCaffery, P. and Drager, U. C. (2000). Retinoic acid in the formation of the dorsoventral retina and its central projections. Dev. Biol. 222, 460-470.
60. Walther, C. and Gruss, P. (1991). Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 113, 1435-1449.
61. Warren, N. and Price, D. J. (1997). Roles of Pax-6 in murine diencephalic development. Development 124, 1573-1582.
62. Xu, P. X., Zhang, X., Heaney, S., Yoon, A., Michelson, A. M. and Maas, R. L. (1999). Regulation of Pax6 expression is conserved between mice and flies. Development 126, 383-395.
63. Yao, J., Lai, E. and Stifani, S. (2001) The winged-helix protein brain factor 1 interacts with groucho and hes proteins to repress transcription. Mol. Cell. Biol. 6, 1962-1972.
64. Yuasa, J., Hirano, S., Yamagata, M. and Noda, M. (1996). Visual projection map specified by topographic expression of transcription factors in the retina. Nature 382, 632-635.
65. Zuber, M. E., Perron, M., Philpott, A., Bang, A. and Harris, W. A. (1999). Giant eyes in Xenopus laevis by overexpression of XOptx2. Cell 98, 341-352.