| 标题 |
 Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment 相关领域
生物
单倍型
遗传学
变量表达式
神经科学
表达式（计算机科学）
等位基因
基因
计算机科学
程序设计语言
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| 网址 | |
| DOI | |
| 其它 | Recurrent proximal 16p11.2 deletion (16p11.2del) is a risk factor for diverse neurodevelopmental disorders (NDDs) with incomplete penetrance and variable expressivity. Although investigation with human induced pluripotent stem cell (hiPSC) models has confirmed disruption of neuronal development in 16p11.2del neuronal cells, which genes are responsible for abnormal cellular phenotypes and what determines the penetrance of neurodevelopmental abnormalities are unknown. We performed haplotype phasing of the 16p11.2 region in a 16p11.2del NDD cohort and generated hiPSCs for two 16p11.2del families with distinct residual haplotypes and variable NDD phenotypes. Using transcriptomic profiles and cellular phenotypes of the hiPSC-differentiated cortex neuronal cells, we revealed MAPK3 as a contributor to dysfunction in multiple pathways related to early neuronal development, with altered soma and electrophysiological properties in mature neuronal cells. |
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