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Human Molecular Genetics Advance Access published online on January 27, 2005
Human Molecular Genetics, doi:10.1093/hmg/ddi069
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Human Molecular Genetics © Oxford University Press 2005; all rights reserved

Article

The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure

Noriyuki Azuma 1*, Keiko Tadokoro 2, Astuko Asaka 2, Masao Yamada 2, Yuki Yamaguchi 3, Hiroshi Handa 3, Satsuki Matsushima 4, Takashi Watanabe 4, Shinichi Kohsaka 5, Yasuyuki Kida 6, Tomoki Shiraishi 6, Toshihiko Ogura 6, Kenji Shimamura 7, and Masato Nakafuku 7

1 Department of Ophthalmology, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Department of Genetics, National Research Institute for Child Health and Development, Tokyo 154-8567, Japan
2 Department of Genetics, National Research Institute for Child Health and Development, Tokyo 154-8567, Japan
3 Department of Biological Information, Tokyo Institute of Technology, Graduate School of Bioscience and Biothechnology, Yokohama, 226-8501, Japan
4 Department of Clinical Pathology, Kyorin University School of Medicine, Tokyo 181-8611, Japan
5 Department of Neurochemistry, National Institute of Neuroscience, Tokyo, 187-8502, Japan
6 Department of Developmental Neurobiology, Institute of Development, Aging and Cancer, Sendai 980-8575, Japan
7 Department of Neuroscience, University of Tokyo Graduate School of Medicine, Tokyo 113-0033, Japan

* To whom correspondence should be addressed.
Noriyuki Azuma, E-mail: azuma-n{at}ncchd.go.jp


  Abstract

The vertebrate retina has an area where visual cells are closely packed for proper vision that is known as a fovea, an area centralis, or a visual streak. The molecular mechanism that regulates the formation of these structures and visual cell gradients is unknown. The transcription factor Pax6 is a master regulator of eye development. A Pax6 isoform that contains an exon 5a-encoded 14 amino acid insertion in its paired domain, Pax6(+5a), has different DNA-binding properties compared to the Pax6(-5a) isoform. Little is known about the functional significance of Pax6(+5a). Here we show that Pax6(+5a) is expressed especially in the retinal portion where visual cells accumulate during eye development and, when overexpressed, induces a remarkable well-differentiated retina-like structure. Pax6(+5a) proteins that bear point mutations that are found in patients with foveal hypoplasia are unable to induce these ectopic retina-like structures. We propose that Pax6(+5a) induces a developmental cascade in the prospective fovea, area centralis or visual streak region that leads to the formation of a retinal architecture bearing densely packed visual cells.


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