神经精神疾病中的体细胞拷贝数变异。
Somatic copy number variants in neuropsychiatric disorders.
机构信息
Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Bioinformatics & Integrative Genomics Program and Harvard/MIT MD-PHD Program, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Division of Genetics and Genomics, Manton Center for Orphan Disease, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
出版信息
Curr Opin Genet Dev. 2021 Jun;68:9-17. doi: 10.1016/j.gde.2020.12.013. Epub 2021 Jan 11.
Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent studies started exploring a class of dnCNVs that occur post-zygotically, and are therefore present in some but not all cells of the body. Analogous to conditional mutations in animal models, the presence of risk mutations in a fraction of cells has the potential to enlighten how damaging mutations affect cell-type/cell-circuit specific pathologies leading to neuropsychiatric manifestations. Although mosaic CNVs appear to contribute to a modest fraction of risk (0.3-0.5%), expanding our insights about them with more sensitive experimental and statistical methods, has the potential to help clarify mechanisms of neuropsychiatric disease.
拷贝数变异（CNVs）与神经精神疾病相关，罕见的遗传和新生 CNVs（dnCNVs）对疾病易感性有较大影响。最近的研究开始探索一类新生后发生的 dnCNVs，因此它们存在于身体的某些但不是所有细胞中。类似于动物模型中的条件突变，风险突变在一部分细胞中的存在有可能揭示破坏性突变如何影响特定于细胞类型/细胞回路的病理，从而导致神经精神表现。尽管嵌合体 CNVs 似乎仅占风险的一小部分（0.3-0.5%），但通过更敏感的实验和统计方法来扩展我们对它们的认识，有可能帮助阐明神经精神疾病的机制。
Zotero 插件