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自然要览
来源:中国科学报      作者:田学文      时间:2014-11-24 00:00      关键词:自然
摘要:选自英国Nature杂志 2014 年11 月13 日出版

与自闭症相关的遗传因素分析

泛自闭症(ASD)是一大类脑发育疾病,包括自闭症、儿童期崩解症和阿斯伯格综合征,其特征是社会交往和沟通能力降低、行为反复和兴趣有限。在本期《自然》上发表文章的两个小组采用大规模全外显子组测序方法研究了遗传新生突变和生殖系新生突变对ASD风险的贡献。Silvia De Rubeis 等人分析了来自3871个自闭症病例和9937个祖先相匹配的对照组或亲代对照组的DNA样本,识别出有可能影响患该疾病风险的超过100个常染色体基因。新生功能丧失突变在超过5%的自闭症患者身上被检出。相关的基因产物中很多都似乎在突触、转录和染色质重塑通道中发挥功能。Ivan Iossifov等人对来自超过2500个家庭(其中每个都有一个患ASD的孩子)的外显子组进行了测序。他们识别出27个高置信度的基因目标,并且估计13%的新生错义突变和43%的“可能会破坏基因的”(LGD)新生突变分别造成所诊断出病例中的12%和9%。

突触囊泡的快速重构

自从突触囊泡循环在上世纪70年代被发现以来,网格蛋白一直被认为在质膜上发挥作用,在轴突末端受到刺激后约20秒来重构突触囊泡。Erik Jorgensen及同事重做了当初的那些实验,但将光遗传学刺激与高压冷冻相结合来在刺激之后将样本迅速固定。这样做便使情况发生了改变:以前假设的机制在22℃这个非生理性的、“室温”温度下有效,这个时候超快内吞作用被中断。在某一生理温度下 (34℃),大囊泡则会在大约50毫秒内通过独立于网格蛋白的超快内吞作用被从质膜中提取出来;这些囊泡然后会融合形成核内体,在刺激之后大约5秒小囊泡会通过网格蛋白支架从它们当中被再生出来。

拓扑Haldane模型的实验演示

量子霍尔效应会导致受到拓扑保护的边缘态,该效应过去很长时间被认为只会在一个外部磁场存在的情况下出现。但在1988年,Duncan Haldane提出一个模型,在该模型中这种奇异电子结构的出现并没有这个要求。他提出,在一个具有交错磁通的蜂巢晶格中,量子霍尔效应的必要条件将是材料本身中固有的。这一概念背后的原理后来被用来设计拓扑绝缘体,但Haldane 模型的最初表达形式一直没有在实验室中被观察到过。在本期《自然》上,两个小组报告了与Haldane模型相关的进展。Gregor Jotzu等人报告了Haldane模型的首次实现;Pedram Roushan等人介绍了它可以怎样被精确测定。Jotzu等人利用超冷费米子、通过对晶格位置进行环形调制及在相邻点之间产生能量抵消,实现了时间逆转和反对称性(该模型的两个主要要求)的破坏。Roushan等人利用超导量子线路(夹在超导电极之间的一个约瑟夫森结)通过一个量子位实现了一个非相互作用形式的Haldane模型,同时通过一个被称为 “gmon”耦合架构的新的实验设置实现了一个相互作用形式的二量子位Haldane模型。他们的实验设置使其能够通过测定Berry curvature (所有拓扑结构的一个共同特征)来对两种情形都进行表征。

“奇异恐手龙”现真形

近50年来,奇异的兽脚亚目恐龙“奇异恐手龙”一直被认为是古生物学上最为引人入胜的谜团之一。此前,人们只是从1965年在蒙古发掘出的两个巨大前肢知道它们,人们也曾认为它们属于似鸟龙、镰刀龙或是一个全新的兽脚亚目恐龙分支当中的一员。现在,新的考古发掘工作发现了这种恐龙的两个几乎完整的骨架,从而使得Yuong-Nam Lee等人能够提供一个关于“奇异恐手龙”的详细画面。结果显示,这是一种巨大的动物,头骨为鸭嘴形,驼背,是似鸟龙中已知最大的,生活在潮湿环境中,所吃的东西包括植物和鱼。

与人类新皮层扩张相关的遗传因素

人类独特的智慧被广泛归因于新皮层的扩张,这是与灵长类和其他哺乳动物相比较而言的。最近的研究报告显示,放射状胶质细胞(在整个发育中的脑皮层中都存在的一种类型的神经前体细胞)提高的增殖潜力是新皮层扩张的一个驱动因素。Arnold Kriegstein及同事在放射状胶质细胞的基因表达中发现了可能对人类新皮层扩张有贡献的演变,从而将这一概念又向前推进了一步。他们发现,人类和小鼠在放射状胶质细胞中具有高度保守的基因表达模式,只是少数几个特定的信号传导通道除外。PDGFD及其受体PDGFRβ在人类皮层发育中有明显不同的表达模式和特征,这些模式和特征在小鼠中是没有的。在人类脑切片培养物中破坏这些路径,会阻止正常细胞周期的发展,而小鼠这些路径的异位激发则会增强放射状胶质细胞的增殖和扩散,从而揭示了人类皮层发育特有的一个关键机制。

(田学文/编译 更多信息请访问www.naturechina.com/st)


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