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Human Molecular Genetics, 2002, Vol. 11, No. 10 1161-1167
© 2002 Oxford University Press

PAX6 in sensory development

Veronica van Heyningen* and Kathleen A. Williamson

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK

Received February 25, 2002; Accepted March 17, 2002

PAX6 function was first identified through aniridia-associated null mutations. Since then, this transcription factor, with a paired domain and a homeodomain, has become a paradigm, illustrating functional conservation in developmental pathways. The Small eye mouse and Drosophila eyeless have served as major model systems in defining the multistage roles for Pax6 in eye and olfactory system development throughout evolution. The overt phenotypic consequences of heterozygous human and mouse Pax6 mutations were initially confined to the eye, with some interesting genotype–phenotype correla-tions being noted. Recently, structural and functional abnormalities in the olfactory system have been identified. Alterations in brain structure have also been documented, in line with the wider forebrain and cerebellar expression of Pax6. The broad PAX6 expression pattern is controlled by a number of long-range control elements, and is reflected in the severe homozygote phenotype. Upstream regulators and a multitude of downstream targets of PAX6 have been identified, and its varied tissue-specific functions are emerging.

* To whom correspondence should be addressed: Tel: +44 (0)131 467 8405; Fax: +44 (0)131 343 2620; Email: v.vanheyningen{at}hgu.mrc.ac.uk


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