Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes
Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes
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DOI：
10.1006/geno.1998.5547
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发表时间：
1998-11-15
期刊：
影响因子：
4.4
通讯作者：
Hunt, DM
中科院分区：
文献类型：
--
作者：
Halford, S;Dulai, KS;Hunt, DM
果蝇的光传导是一条由磷酸肌醇介导的信号通路。磷脂酰肌醇4，5-二磷酸（PIP）在这一过程中起着核心作用，其水平受到严格调控。催化由磷脂酸形成CDP-二酰基甘油的酶CDP-二酰基甘油合酶（CDS）的光受体特异性形式是可用于信号传导的PIP量的热调节剂。CDS突变体发生光诱导的视网膜变性。作为寻找可能参与人类眼病的新基因的一部分，使用果蝇光转导基因作为模型系统，克隆并测序了两个人CDP-二酰基甘油合酶基因（CDS 1和CDS 2）。辐射杂交板定位和荧光原位杂交被用来定位到染色体4 q21和20 p13的基因。到目前为止，还没有已知的视网膜疾病映射到这些区域中的任何一个。(C)北京：科学出版社.
Phototransduction in Drosophila is a phosphoinositide-mediated signaling pathway. Phosphatidylinositol 4,5-bisphosphate (PIP,) plays a central role in this process, and its levels are tightly regulated. A photoreceptor-specific form of the enzyme CDP-diacylglycerol synthase (CDS), which catalyzes the formation of CDP-diacylglycerol from phosphatidic acid, is a hey regulator of the amount of PIP, available for signaling. cds mutants develop light-induced retinal degeneration. As part of a search for novel genes that may be involved in eye disease in human, using Drosophila phototransduction genes as a model system, two human CDP-diacylglycerol synthase genes (CDS1 and CDS2) were cloned and sequenced. Radiation hybrid panel mapping and fluorescence in situ hybridization were used to localize the genes to chromosomes 4q21 and 20p13. As yet, no known retinal diseases map to either of these regions. (C) 1998 Academic Press.