相关实验视频
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Dissection of Hippocampal Dentate Gyrus from Adult Mouse
Published on: November 17, 2009
双皮质蛋白 (doublecortin) 是一种特定于大脑的基因,在人类的X链接脑和双皮质综合征中发生突变,它编码了一个假定的信号蛋白
J G Gleeson1, K M Allen, J W Fox
1Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA.
Cell
|March 7, 1998
概括
研究人员发现了一种新型蛋白质 - - Doublecortin,与X链接的脑和"双皮质"脑部疾病有关. 双丁基因的突变通过破坏神经元迁移来引起这些疾病.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 链接到X的脑 (X-linked lissencephaly,XLIS) 和"双皮质"是相关的大脑形.
- 这些疾病的特点是移动的大脑皮层神经元的停止.
- 这两种情况都映射到Xq22.3-Xq23染色体区域.
研究的目的:
- 为了确定负责X链接无脑症和"双皮质"的基因.
- 描述在神经元发育中的鉴定基因的功能.
主要方法:
- 检查X链接脑病患者的基因突变.
- 鉴定和表征一种新的脑特异性cDNA.
- 在受影响的家庭和零星病例中对双丁基因突变的分析.
主要成果:
- 发现了一种新型的10kB大脑特异性cDNA,它编码了一种40kDa的蛋白质 - - Doublecortin.
- 在一个X结合性小脑症患者的平衡转位中断了双丁基因.
- 在四个家族中发现了独立的双皮质突变,以及三例偶发的"双皮质"/X链接的轻脑病例.
- 双氨酸表现出潜在的酸化位点和对激酶蛋白的同质性,这表明它在信号传导中发挥了作用.
结论:
- 双丁是参与神经元迁移的关键蛋白质.
- 双丁基因的突变会导致X连接的脑和"双皮质".
- 双丁可能在调节神经元迁移的Abl-依赖途径中起作用,可能涉及mDab1.1.
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