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Development 129, 4535-4545 (2002)
© 2002 The Company of Biologists Limited

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

Nicole Bäumer{ddagger}, Till Marquardt*,{ddagger}, Anastassia Stoykova, Ruth Ashery-Padan{dagger}, Kamal Chowdhury and Peter Gruss§

Max-Planck-Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D-37077 Göttingen, Germany
* Present address: The Salk Institute for Biological Studies, Gene Expression Laboratory, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA.
{dagger} Present address: Sackler Faculty of Medicine, Department of Human Genetics and Molecular Medicine, Tel Aviv University, Ramat Aviv 69978, Tel Aviv, Israel
{ddagger} These authors contributed equally to this work

§Author for correspondence (e-mail: pgruss{at}gwdg.de)

Accepted 26 June 2002

The establishment of polarity is an important step during organ development. We assign a function for the paired and homeodomain transcription factor Pax6 in axis formation in the retina. Pax6 is a key factor of the highly conserved genetic network implicated in directing the initial phases of eye development. We recently demonstrated that Pax6 is also essential for later aspects of eye development, such as lens formation and retinogenesis. In this study, we present evidence that a highly conserved intronic enhancer, {alpha}, in the Pax6 gene is essential for the establishment of a distalhigh-proximallow gradient of Pax6 activity in the retina. In the mature retina, the activity mediated by the {alpha}-enhancer defines a population of retinal ganglion cells that project to two sickle-shaped domains in the superior colliculus and lateral geniculate nucleus. Deletion of the {alpha}-enhancer in vivo revealed that retinal Pax6 expression is regulated in two complementary topographic domains. We found that Pax6 activity is required for the establishment, as well as the maintenance of dorsal and nasotemporal characteristics in the optic vesicle and, later, the optic cup.

Key words: Pax6, Enhancer, Retina, Autoregulation, Axon guidance, Superior colliculus, Axis formation, BF-1, BF-2, Mouse


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