Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
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DOI：
10.1093/hmg/7.1.85
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发表时间：
1998-01-01
影响因子：
3.5
通讯作者：
Jalanko, A
中科院分区：
文献类型：
--
作者：
Järvelä, I;Sainio, M;Jalanko, A
巴滕病（青少年发病的神经性ceroid lipofuscinosis， JNCL）是儿童最常见的神经退行性疾病，是由最近发现的位于染色体16p11.2-12.1的基因（CLN3）突变引起的。为了阐明CLN3蛋白的生物合成和定位，我们在COS-1和HeLa细胞系中表达了CLN3 cDNA。体外翻译，免疫沉淀和Western blotting分析检测到类似于43 kDa的多肽。脉冲追踪实验表明CLN3蛋白合成为n -糖基化单链多肽，在生长培养基中未检测到，共聚焦免疫荧光显微镜显示CLN3蛋白定位于溶酶体腔室。这些结果为巴滕病可归类为溶酶体疾病的一个成员提供了证据。
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene (CLN3) localized to chromosome 16p11.2-12.1. To elucidate the biosynthesis and localization of the CLN3 protein, we expressed CLN3 cDNA in COS-1 and HeLa cell lines. In vitro translation, immunoprecipitation and Western blotting analyses detected an similar to 43 kDa polypeptide. Pulse-chase experiments indicated that the CLN3 protein is synthesized as an N-glycosylated single-chain polypeptide, which was not detected in growth medium, Confocal immunofluorescence microscopy revealed that the CLN3 protein is localized to the lysosomal compartment. These results provide evidence that Batten disease can be classified as a member of lysosomal diseases.