Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States.
Departments of Medicine and Molecular Genetics, University of Toronto, 661 University Avenue, Suite 1500, MaRS Centre, West Tower, Toronto, ON M5G 1M1 Canada; Department of Psychological and Brain Sciences, 317 Life Sciences Building, University of Louisville, Louisville, KY 40292, United States.
Curr Opin Genet Dev. 2021 Jun;68:41-48. doi: 10.1016/j.gde.2021.01.013. Epub 2021 Feb 17.
Copy number variation (CNV) at 7q11.23 causes distinct disorders with both contrasting and overlapping phenotypic features of some but not all of the genes encompassed by the CNV. The spectrum of cognitive disabilities, psychopathology and altered behaviours associated with 7q11.23 CNV provides a tantalizing window of opportunity to better understand the molecular bases for complex human cognitive function and social behaviour. Study of individuals with atypical CNVs has narrowed the field of candidate genes, and the generation of mouse models has allowed further insight into their functions. Recent research has used high-throughput genomics techniques to interrogate the transcriptome and methylome, and initial strategies to correct gene transcription levels, pathophysiology and cognitive and behavioural phenotypes show promise.
拷贝数变异 (CNV) 在 7q11.23 导致具有截然不同的疾病，这些疾病的表型特征既有一些重叠，也有一些不重叠，而这些重叠和不重叠的表型特征是由 CNV 所包含的基因决定的。7q11.23 CNV 相关的认知障碍、精神病理学和行为改变的范围为更好地理解复杂的人类认知功能和社会行为的分子基础提供了一个诱人的机会。对具有非典型 CNV 的个体的研究缩小了候选基因的范围，而小鼠模型的生成也使我们进一步了解了它们的功能。最近的研究使用了高通量基因组学技术来研究转录组和甲基组，并且纠正基因转录水平、病理生理学以及认知和行为表型的初始策略显示出了希望。
