Differential expression of the parkin gene in the human brain and peripheral leukocytes
Differential expression of the parkin gene in the human brain and peripheral leukocytes
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DOI：
10.1016/s0304-3940(98)00697-1
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发表时间：
1998-10-02
影响因子：
2.5
通讯作者：
Shimizu, T
中科院分区：
文献类型：
--
作者：
Sunada, Y;Saito, F;Shimizu, T
对常染色体隐性遗传性青少年帕金森综合征（AR-JP）染色体6q25.2-27上的相关基因进行分子克隆，发现了一种新的功能未知的蛋白质，命名为parkin。在AR-JP患者中，最常见的缺失涉及parkin基因的外显子3-5。对于突变筛选，我们试图分析通过RT-PCR扩增的parkin转录本。基于parkin基因的不正常转录可能发生在每一种细胞类型的假设，我们成功地从人外周血白细胞中扩增parkin信息使用RT-PCR。白细胞中的帕金转录本比大脑中的全长转录本尺寸小。DNA测序确定外显子3-5在正常人白细胞转录本中被剪接掉。我们的研究结果表明，选择性剪接产生不同的帕金转录在不同的组织。此外，缺失倾向外显子的生理剪接可能为理解AR-JP的发病机制提供重要线索。(C)1998爱思唯尔科学爱尔兰有限公司保留所有权利。
Molecular cloning of the responsible gene on chromosome 6q25.2-27 for autosomal recessive juvenile parkinsonism (AR-JP) identified a novel protein of unknown function, named parkin. In patients with AR-JP, deletions most commonly involve exons 3-5 in the parkin gene. For mutation screening we tried to analyze the parkin transcript amplified by RT-PCR. Based on the assumption that illegitimate transcription of the parkin gene may occur in every cell type, we successfully amplified the parkin message from human peripheral leukocytes using RT-PCR. The parkin transcript in leukocytes was smaller in size than the full-length transcript in the brain. DNA sequencing determined that exons 3-5 were spliced out in the normal human leukocyte transcript. Our results demonstrate that alternative splicing produces distinct parkin transcripts in different tissues. Moreover, physiological splicing of deletion-prone exons may provide an important clue to understanding the pathogenesis of AR-JP. (C) 1998 Elsevier Science Ireland Ltd. All rights reserved.