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脑的单细胞基因组学:关注神经元多样性和神经精神疾病。

Single cell genomics of the brain: focus on neuronal diversity and neuropsychiatric diseases.

机构信息

National Research Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia ; Institute of Pediatrics and Children Surgery, Minzdravsotsrazvitia, Moscow, Russia.

出版信息

Curr Genomics. 2012 Sep;13(6):477-88. doi: 10.2174/138920212802510439.

Abstract

Single cell genomics has made increasingly significant contributions to our understanding of the role that somatic genome variations play in human neuronal diversity and brain diseases. Studying intercellular genome and epigenome variations has provided new clues to the delineation of molecular mechanisms that regulate development, function and plasticity of the human central nervous system (CNS). It has been shown that changes of genomic content and epigenetic profiling at single cell level are involved in the pathogenesis of neuropsychiatric diseases (schizophrenia, mental retardation (intellectual/leaning disability), autism, Alzheimer's disease etc.). Additionally, several brain diseases were found to be associated with genome and chromosome instability (copy number variations, aneuploidy) variably affecting cell populations of the human CNS. The present review focuses on the latest advances of single cell genomics, which have led to a better understanding of molecular mechanisms of neuronal diversity and neuropsychiatric diseases, in the light of dynamically developing fields of systems biology and "omics".

摘要

单细胞基因组学在帮助我们理解体细胞基因组变异在人类神经元多样性和脑部疾病中的作用方面做出了越来越重要的贡献。研究细胞间基因组和表观基因组变异为阐明调控人类中枢神经系统(CNS)发育、功能和可塑性的分子机制提供了新线索。研究表明,基因组内容和单细胞水平上的表观遗传特征的变化与神经精神疾病(精神分裂症、智力障碍(智力/学习障碍)、自闭症、阿尔茨海默病等)的发病机制有关。此外,还发现几种脑部疾病与基因组和染色体不稳定性(拷贝数变异、非整倍体)有关,这些变化会不同程度地影响人类中枢神经系统的细胞群体。本综述重点介绍了单细胞基因组学的最新进展,这些进展使我们能够更好地理解神经元多样性和神经精神疾病的分子机制,同时也考虑到系统生物学和“组学”等不断发展的领域。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a8fa/3426782/9e20d7628aef/CG-6-477_F1.jpg

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