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钙光蛋白(一种编码果蝇光感受器细胞特异性钙结合蛋白的基因)中的突变揭示了其在细胞形态发生和存活中的作用。

Mutations in calphotin, the gene encoding a Drosophila photoreceptor cell-specific calcium-binding protein, reveal roles in cellular morphogenesis and survival.

作者信息

Yang Y, Ballinger D

机构信息

Graduate Program in Molecular Biology, Cornell University Graduate School of Medical Sciences, New York, New York 10021.

出版信息

Genetics. 1994 Oct;138(2):413-21. doi: 10.1093/genetics/138.2.413.

Abstract

Calphotin is a Drosophila photoreceptor cell-specific protein expressed very early in eye development, at the time when cell-type decisions are being made. Calphotin is a very hydrophobic and proline-rich protein which lacks obvious transmembrane domains. The cDNA encoding Calphotin was mapped to a region removed by a set of existing chromosomal deletions. Mutations that alter photoreceptor cell structure and development were isolated that fail to complement these deletions. These mutations fall into two classes. Class I mutations alter the structure of the rhabdomere, a photoreceptor cell organelle specialized for phototransduction. Class II mutations have rough eyes, due to misorientation of the rhabdomeres and photoreceptor cell death. Transformation rescue of these phenotypes in transgenic flies bearing calphotin genomic DNA indicates that both classes of mutations are in the calphotin gene. Analysis of these mutations suggest that Calphotin plays important roles in both rhabdomere development and in photoreceptor cell survival.

摘要

钙光蛋白是一种果蝇光感受器细胞特异性蛋白,在眼睛发育的早期,即细胞类型决定时就开始表达。钙光蛋白是一种非常疏水且富含脯氨酸的蛋白质,缺乏明显的跨膜结构域。编码钙光蛋白的cDNA被定位到一组现有染色体缺失所去除的区域。分离出了改变光感受器细胞结构和发育的突变,这些突变不能与这些缺失互补。这些突变分为两类。I类突变改变了视小杆的结构,视小杆是一种专门用于光转导的光感受器细胞器。II类突变导致眼睛粗糙,这是由于视小杆的方向错误和光感受器细胞死亡所致。在携带钙光蛋白基因组DNA的转基因果蝇中对这些表型进行转化拯救表明,这两类突变都存在于钙光蛋白基因中。对这些突变的分析表明,钙光蛋白在视小杆发育和光感受器细胞存活中都起着重要作用。

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