Brain-specific transcript variants of 5′ and 3′ ends of mouse VPS13A and VPS13C
Brain-specific transcript variants of 5′ and 3′ ends of mouse VPS13A and VPS13C
复制标题
DOI：
10.1016/j.bbrc.2006.12.122
复制
发表时间：
2007-02-23
影响因子：
3.1
通讯作者：
Sano, Akira
中科院分区：
文献类型：
--
作者：
Mizuno, Emiko;Nakamura, Masayuki;Sano, Akira
VPS 13 A基因突变是导致舞蹈病-棘红细胞增多症（ChAc）的主要原因。我们之前确定了小鼠VPS 13 A的全长序列和外显子-内含子结构，并通过使用基因打靶技术建立了ChAc模型小鼠。在这个过程中，我们发现了不同的5'和3'转录变体。由于ChAc是一种罕见的神经退行性疾病，小鼠模型应该是有用的ChAc分子发病机制的调查，该模型的大脑特异性变异的VPS 13 A将是必不可少的，在这些调查。在本研究中，我们研究了小鼠VPS 13 A转录变体。我们发现了小鼠VPS 13 A的脑特异性变体，其可能参与ChAc的脑特异性病理学。此外，我们首次鉴定了小鼠VPS 13 C cDNA序列和VPS 13 C的脑特异性变体。(c)2006年爱思唯尔公司All rights reserved.
Mutations in vacuolar protein sorting 13A (VPS13A) gene are responsible for chorea-acanthocytosis (ChAc). We previously determined the full-length sequence and exon-intron structure of mouse VPS13A and generated a ChAc model mouse by using the gene targeting technique. In the process, we found diverse 5' and 3' transcript variants. Since ChAc is a rare neurodegenerative disorder, the mouse model should be useful for investigation of ChAc molecular pathogenesis, and the model's brain specific variants of VPS13A will be indispensable in these investigations. In the present study, we investigated mouse VPS13A transcript variants. We found brain-specific variants of mouse VPS13A, which may be involved in the brain-specific pathology of ChAc. In addition, we identified for the first time mouse VPS13C cDNA sequences and brain-specific variants of VPS13C. (c) 2006 Elsevier Inc. All rights reserved.