Autism genes keep turning up chromatin.

Janine M Lasalle
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引用次数: 63

Abstract

Autism-spectrum disorders (ASD) are complex genetic disorders collectively characterized by impaired social interactions and language as well as repetitive and restrictive behaviors. Of the hundreds of genes implicated in ASD, those encoding proteins acting at neuronal synapses have been most characterized by candidate gene studies. However, recent unbiased genome-wide analyses have turned up a multitude of novel candidate genes encoding nuclear factors implicated in chromatin remodeling, histone demethylation, histone variants, and the recognition of DNA methylation. Furthermore, the chromatin landscape of the human genome has been shown to influence the location of de novo mutations observed in ASD as well as the landscape of DNA methylation underlying neurodevelopmental and synaptic processes. Understanding the interactions of nuclear chromatin proteins and DNA with signal transduction pathways and environmental influences in the developing brain will be critical to understanding the relevance of these ASD candidate genes and continued uncovering of the "roots" of autism etiology.

自闭症基因不断增加染色质。
自闭症谱系障碍(ASD)是一种复杂的遗传疾病,其总体特征是社交互动和语言障碍,以及重复和限制性行为。在涉及ASD的数百个基因中,那些编码作用于神经元突触的蛋白质的基因在候选基因研究中最具特征。然而,最近无偏倚的全基因组分析已经发现了许多新的候选基因,这些基因编码涉及染色质重塑、组蛋白去甲基化、组蛋白变异和DNA甲基化识别的核因子。此外,人类基因组的染色质格局已被证明影响ASD中观察到的新生突变的位置,以及神经发育和突触过程中DNA甲基化的格局。了解核染色质蛋白和DNA与发育中的大脑信号转导途径和环境影响的相互作用,对于理解这些ASD候选基因的相关性和继续揭示自闭症病因的“根源”至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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