CNV biology in neurodevelopmental disorders
CNV biology in neurodevelopmental disorders
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DOI：
10.1016/j.conb.2017.12.004
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发表时间：
2018-02-01
影响因子：
5.7
通讯作者：
Tamada, Kota
中科院分区：
文献类型：
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作者：
Takumi, Toru;Tamada, Kota
近年来，以尖端技术为特征的拷贝数变异（CNV）增加了我们对人类基因组知识的复杂性。 CNV不仅有助于人类多样性，而且还导致不同类型的疾病，包括神经发育迟缓、自闭症谱系障碍和神经精神疾病。有趣的是，许多致病性 CNV 在这些疾病中是共有的。研究表明，疾病的病理生理学可能不仅仅归因于 CNV 内的单个驱动基因，多因素的影响也可能很重要。基因表达和由此产生的表型也可能受到表观遗传改变和染色体结构变化的影响。结合人类遗传学和系统生物学，利用CNV的动物和细胞模型进行多维度的综合研究，有望进一步了解神经发育障碍和神经精神疾病的病理生理机制。
Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies suggest that pathophysiology of disease may not be simply attributed to a single driver gene within a CNV but also that multifactorial effects may be important. Gene expression and the resulting phenotypes may also be affected by epigenetic alteration and chromosomal structural changes. Combined with human genetics and systems biology, integrative research by multi-dimensional approaches using animal and cell models of CNVs are expected to further understanding of pathophysiological mechanisms of neurodevelopmental disorders and neuropsychiatric disorders.