Chisholm A D, Horvitz H R
Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge 02139, USA.
Nature. 1995 Sep 7;377(6544):52-5. doi: 10.1038/377052a0.
The Pax-6 genes are important for eye development in both vertebrates and Drosophila. Mutations in the human PAX6 gene are found in patients with a variety of eye disorders, including aniridia and Peters' anomaly, and mutations in the Drosophila Pax-6 homologue cause the eyeless phenotype. In the nematode Caenorhabditis elegans, vab-3 mutants display many defects in head-region development, including aberrant morphogenesis, transformation of hypodermal (epidermal-like) cell fates to those of posterior homologues, and abnormal specification of neurons. Here we show that vab-3 is a member of the paired-domain-containing Pax-6 gene family and is expressed in head-region cells. This C. elegans Pax-6 locus can also encode proteins lacking the paired domain. Our results suggest that a primordial role of the Pax-6 gene family could have been to pattern part of the head region, and that Pax-6 genes subsequently evolved to be more specifically involved in eye development.
Pax-6基因对脊椎动物和果蝇的眼睛发育都很重要。在患有多种眼部疾病（包括无虹膜和彼得斯异常）的患者中发现了人类PAX6基因的突变，果蝇Pax-6同源物的突变会导致无眼表型。在线虫秀丽隐杆线虫中，vab-3突变体在头部区域发育中表现出许多缺陷，包括形态发生异常、皮下（表皮样）细胞命运向后部同源物的转变以及神经元的异常特化。我们在此表明，vab-3是含配对结构域的Pax-6基因家族的成员，并在头部区域细胞中表达。这个秀丽隐杆线虫的Pax-6基因座也可以编码缺乏配对结构域的蛋白质。我们的结果表明，Pax-6基因家族的原始作用可能是对头部分区域进行模式化，并且Pax-6基因随后进化为更具体地参与眼睛发育。
