Pax6 is required for establishing naso-temporal and dorsal characteristics of the optic vesicle
Author:
Bäumer Nicole12, Marquardt Till132, Stoykova Anastassia1, Ashery-Padan Ruth14, Chowdhury Kamal1, Gruss Peter1
Affiliation:
1. Max-Planck-Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D-37077 Göttingen, Germany 2. These authors contributed equally to this work 3. Present address: The Salk Institute for Biological Studies, Gene Expression Laboratory, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA. 4. Present address: Sackler Faculty of Medicine, Department of Human Genetics and Molecular Medicine, Tel Aviv University, Ramat Aviv 69978, Tel Aviv, Israel
Abstract
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, α, 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 α-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 α-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.
Publisher
The Company of Biologists
Subject
Developmental Biology,Molecular Biology
Reference65 articles.
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