CHEDIAK HIGASHI SYNDROME & HERMANSKY PUDLAK SYNDROME INTRACELLULAR PROTEINS

Chediak-Higashi综合征(CHS)和Hermansky-Pudlak综合征(HPS) 是致命的人类遗传疾病，其特征是结构性和 多细胞质细胞器的功能缺陷--黑素小体 溶酶体和颗粒。我们已经克隆了CHS和CHS的基因 HPS和目前正在制备相应的抗血清 蛋白质。我们希望定义CHS的无细胞位置和 BPS蛋白(这是全新的)，在正常和突变中都存在 细胞，并确定这些蛋白质是否相互作用 其他和其他蜂窝组件。我们将进行免疫染色。 用我们的抗血清测定CHS的细胞定位 在MM使用共聚焦显微镜和HPS。这些研究应该 有助于阐明这些疾病的发病机制，从而指导 最终设计出合理的疗法。SCIENTIFXC子项目赠款 电话：P41RR00570-27

Chediak-Higashi syndrome (CHS) and Hermansky-Pudlak syndrome (HPS) are fatal human genetic disorders characterized by structural and functional defects of multiple cytoplasmic organelles -- melanosomes, lysosomes, and granules. We have cloned the genes for both CHS and HPS and are currently preparing antisera to the corresponding proteins. We wish to define the ina-acellular location of the CHS and BPS proteins (which are entirely novel), in both normal and mutant cells, and to determine whether these proteins interact with each other and with other cellular components. We will immunostain fissue samples using our antisera and determine cellular localization of CHS and HPS using the confocal microscope at the MM. These studies should help elucidate the pathogenesis of these disorders and thus guide eventual design of rational therapies. SCIENTIFXC SUBPROJECT GRANT NUMBER: P41RR00570-27