Zhang Y, Emmons S W
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Nature. 1995 Sep 7;377(6544):55-9. doi: 10.1038/377055a0.
The Pax-6 transcription-factor gene, containing a paired domain and a paired-type homeodomain, is conserved in structure and ubiquitously present among Metazoa. It is required for development of the central nervous system, and is mutated in human aniridia, mouse and rat small eye and Drosophila eyeless. We identified the Pax-6 gene of the nematode Caenorhabditis elegans in genetic studies of male tail morphology. C. elegans Pax-6 encodes at least two independent genetic functions. One, like other Pax-6 genes, contains paired and homeodomains; this constitutes the genetic locus vab-3. The other, described here, is expressed from an internal promoter and contains only the homeodomain portion; this constitutes the genetic locus mab-18. The mab-18 form of the gene is expressed in a peripheral sense organ and is necessary for specification of sense-organ identity. Its function in this context could be to regulate the expression of cell recognition and adhesion proteins required for sense-organ assembly.
Pax-6转录因子基因包含一个配对结构域和一个配对型同源结构域，其结构保守，在后生动物中普遍存在。它是中枢神经系统发育所必需的，在人类无虹膜、小鼠和大鼠小眼以及果蝇无眼突变体中发生突变。我们在雄性尾部形态的遗传学研究中鉴定出线虫秀丽隐杆线虫的Pax-6基因。秀丽隐杆线虫Pax-6编码至少两种独立的遗传功能。一种功能，与其他Pax-6基因一样，包含配对结构域和同源结构域；这构成了遗传位点vab-3。另一种功能在此处描述，它从内部启动子表达，仅包含同源结构域部分；这构成了遗传位点mab-18。该基因的mab-18形式在周围感觉器官中表达，是感觉器官身份特化所必需的。在这种情况下，其功能可能是调节感觉器官组装所需的细胞识别和粘附蛋白的表达。
