DCC中的突变会导致先天的镜像运动
Myriam Srour1, Jean-Baptiste Rivière, Jessica M T Pham
1Center of Excellence in Neuromics, Université de Montréal, Montréal, QC H2L 2W5, Canada.
Science (New York, N.Y.)
|May 1, 2010
概括
在两个家庭中研究了先天性镜像运动,通常与神经系统发育问题有关. 研究人员发现DCC基因的突变,对神经指导至关重要,导致了这些非自愿的运动,突出了其在人类神经系统横向化中的作用.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 镜像运动是反映自愿行为的非自愿运动,通常与中枢神经系统中线交叉的发育缺陷有关.
- 这些运动可能与影响神经发育的遗传因素有关.
研究的目的:
- 为了研究孤立的先天性镜像运动的遗传基础,作为一种自体主导特征遗传.
- 在受影响的家庭中确定负责这些运动的特定基因.
主要方法:
- 研究了两个大家庭 (法裔加拿大人和伊朗人) 的自体主导先天性镜像运动.
- 进行基因分析以确定受影响个体的突变.
- 对已识别的突变蛋白进行了功能分析.
主要成果:
- 两个家族中的受影响个体都携带了DCC (在结直肠癌中被删除) 基因中的蛋白质截断突变.
- 位于染色体18q21.2上的DCC基因编码了网林-1受体,对轴突指导至关重要.
- 功能分析显示,突变的DCC蛋白有损害的网林-1结合.
结论:
- DCC基因的突变是孤立的先天性镜像运动的原因.
- DCC在人类神经系统的横向化中起着至关重要的作用.
- 通过DCC传递网林-1信号的缺陷会破坏正常的神经发育和运动控制.
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