高龄人大脑新皮质中具有复杂核型的神经元很少。
Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex.
机构信息
Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, VA 22908, USA.
Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, VA 22908, USA; Universidad San Sebastian, Escuela de Medicina, Sede de la Patagonia, Puerto Montt, Chile.
出版信息
Cell Rep. 2019 Jan 22;26(4):825-835.e7. doi: 10.1016/j.celrep.2018.12.107.
A subset of human neocortical neurons harbors complex karyotypes wherein megabase-scale copy-number variants (CNVs) alter allelic diversity. Divergent levels of neurons with complex karyotypes (CNV neurons) are reported in different individuals, yet genome-wide and familial studies implicitly assume a single brain genome when assessing the genetic risk architecture of neurological disease. We assembled a brain CNV atlas using a robust computational approach applied to a new dataset (>800 neurons from 5 neurotypical individuals) and to published data from 10 additional neurotypical individuals. The atlas reveals that the frequency of neocortical neurons with complex karyotypes varies widely among individuals, but this variability is not readily accounted for by tissue quality or CNV detection approach. Rather, the age of the individual is anti-correlated with CNV neuron frequency. Fewer CNV neurons are observed in aged individuals than in young individuals.
人类新大脑皮层神经元的亚群具有复杂的核型，其中兆碱基规模的拷贝数变异（CNVs）改变等位基因多样性。不同个体中报告了具有复杂核型的神经元（CNV 神经元）的不同水平，但在评估神经疾病的遗传风险结构时，全基因组和家族研究隐含地假设了单个大脑基因组。我们使用一种强大的计算方法，对一个新数据集（来自 5 个神经正常个体的 >800 个神经元）和来自 10 个额外神经正常个体的已发表数据进行了大脑 CNV 图谱组装。该图谱显示，具有复杂核型的新皮层神经元的频率在个体之间差异很大，但这种变异性不易通过组织质量或 CNV 检测方法来解释。相反，个体的年龄与 CNV 神经元频率呈负相关。与年轻人相比，老年人中观察到的 CNV 神经元较少。
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