Point mutations (Thr240Arg and Ala311Stop) in the Parkin gene
Point mutations (Thr240Arg and Ala311Stop) in the Parkin gene
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DOI：
10.1006/bbrc.1998.9134
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发表时间：
1998-08-28
影响因子：
3.1
通讯作者：
Mizuno, Y
中科院分区：
文献类型：
--
作者：
Hattori, N;Matsumine, H;Mizuno, Y
常染色体隐性遗传性青少年帕金森综合征(AR-JP)是一种以黑质神经元选择性变性为特征的独特的临床和遗传疾病。最近，与AR-JP相关的parkin基因已被发现。到目前为止，我们发现了两种不同的缺失突变，包括单外显子缺失和多外显子缺失。在本研究中，我们发现了两种类型的点突变(Thr240Arg和Gln311Stop)，涉及来自两个土耳其家系的AR-JP患者的parkin基因外显子6和8。这是有关parkin基因点突变的第一份报告。此外，Thr240Arg突变位于酪蛋白激酶II磷酸化位点的共同序列上。对其突变的鉴定为揭示Parkin蛋白在AR-JP患者脑内黑质变性中的作用提供了重要线索。(C)1998年学术出版社。
Autosomal recessive juvenile parkinsonism (AR-JP) is a distinct clinical and genetic entity characterized by selective degeneration of nigral neurons. Recently, the parkin gene responsible for AR-JP has been identified. To date, we found two different deletional mutations including single and multiple exonic deletions. In the present study, we identified two types of point mutations (Thr240Arg and Gln311Stop) involving exons 6 and 8 in the parkin gene of the AR-JP patients from two Turkish families. This is the first report on point mutations for the parkin gene. Furthermore, the Thr240Arg mutation was located on a consensus sequence for the site of phosphorylation by casein kinase II. Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients. (C) 1998 Academic Press.