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与自闭症相关的染色质调节剂的变性

Micaela Lasser^1,2, Nawei Sun^1,2, Yuxiao Xu^1,2

¹Department of Psychiatry and Behavioral Sciences, University of California, San Francisco, San Francisco, CA 94143, USA.

Development (Cambridge, England)

|June 27, 2023

概括

与自闭症谱系障碍 (ASD) 相关的染色质调节剂在细胞分裂过程中影响微管功能. 这些基因的突变会破坏细胞循环的进展,并可能导致ASD的发病.

科学领域:

遗传学和分子生物学
神经发育障碍神经发育障碍
细胞生物学细胞生物学

背景情况:

基因本体学分析确定染色体调节和突触功能是自闭症谱系障碍 (ASD) 病理生物学中的关键途径.
以前的研究表明,在ASD中涉及蛋白生物学和细胞增殖,一些染色质调节剂已知会影响基因组和蛋白.

研究的目的:

调查5个主要的ASD相关染色体调节剂 (ADNP,CHD8,CHD2,POGZ,KMT5B) 在蛋白生物学中的作用.
探索ASD相关突变在CHD2对微管相关的细胞过程的影响.

主要方法:

在人体细胞和Xenopus in vitro和 in vivo中,将五种与ASD相关的染色质调节剂定位到线粒状微管中.
在ASD患者中对CHD2突变的功能性研究,评估对蛋白质定位,细胞循环,DNA损伤和细胞死亡的影响.
在图布林相关蛋白中对ASD遗传风险丰富的分析.

主要成果:

观察到所有五种研究的染色质调节剂 (ADNP,CHD8,CHD2,POGZ,KMT5B) 都局部化到线粒体微管中.
与ASD相关的CHD2突变导致中断的螺旋本地化,细胞周期停滞,DNA损伤和细胞死亡.
在与素相关的蛋白质中发现了ASD遗传风险的显著丰富.

结论:

蛋白生物学和细胞增殖是ASD背景下进一步研究的关键领域.
这项研究强调了探索超越注释基因功能的重要性,以了解ASD病理机制.
自闭症遗传风险可能与素相关的细胞过程中更广泛的干扰有关.

关键词:

这是Xenopus.自闭症谱系障碍自闭症谱系障碍细胞循环的细胞周期染色是一种染色素.西里亚 (Cilia) 是一个小体.人类人类人类人类人类这些微管是微管子.子子子图布林 (Tubulin) 是一种原蛋白.

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