Richardson J, Cvekl A, Wistow G
Section on Molecular Structure and Function, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Proc Natl Acad Sci U S A. 1995 May 9;92(10):4676-80. doi: 10.1073/pnas.92.10.4676.
Pax-6 is essential for normal eye development and has been implicated as a "master gene" for lens formation in embryogenesis. Guinea pig zeta-crystallin, a taxon-specific enzyme crystallin, achieves high expression specifically in lens through use of an alternative promoter. Here we show that Pax-6 binds a site in this promoter, which is essential for lens-specific expression. Lens and lens-derived cells exhibit a tissue-specific pattern of alternative splicing of Pax-6 transcripts and Pax-6 is expressed in adult lenses and cells that support zeta-crystallin expression. These results suggest that zeta-crystallin is a natural target gene for Pax-6 and that this Pax family member has a direct role in the continuing expression of tissue-specific genes.
Pax-6对正常眼睛发育至关重要，并且在胚胎发生过程中被认为是晶状体形成的“主控基因”。豚鼠ζ-晶体蛋白是一种分类群特异性的酶晶体蛋白，通过使用一个替代启动子，它在晶状体中特异性地实现高表达。在此我们表明，Pax-6结合该启动子中的一个位点，该位点对于晶状体特异性表达至关重要。晶状体及源自晶状体的细胞呈现出Pax-6转录本的组织特异性可变剪接模式，并且Pax-6在成年晶状体以及支持ζ-晶体蛋白表达的细胞中表达。这些结果表明，ζ-晶体蛋白是Pax-6的一个天然靶基因，并且这个Pax家族成员在组织特异性基因的持续表达中具有直接作用。
