PAX6 in sensory development

被引:180
作者
van Heyningen, V [1 ]
Williamson, KA [1 ]
机构
[1] Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland
基金
英国医学研究理事会;
关键词
D O I
10.1093/hmg/11.10.1161
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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 correlations 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.
引用
收藏
页码:1161 / 1167
页数:7
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