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超级增强器劫持驱动在脑膜瘤中刺线路连接体的子宫外表达

Mark W Youngblood^1,2,3,4, Zeynep Erson-Omay^1,2, Chang Li^1,2,5

¹Yale Program in Brain Tumor Research, Yale School of Medicine, New Haven, CT, USA.

Nature communications

|October 7, 2023

概括

发现了脑膜瘤 (一种常见的大脑瘤) 的新驱动因素. 结构变异通过增强器劫持IHH和SHH配体激活了刺信号,扩大了对这种癌症途径的理解.

科学领域:

神经瘤学神经瘤学
分子生物学分子生物学
遗传学是一个遗传学.

背景情况:

刺信号传递对于胚胎发育至关重要,在诸如脑膜瘤之类的癌症中经常失调.
脑膜瘤是最常见的原发性脑瘤,在一小部分病例中表现出形通路激活,通常是由于SMO突变.

研究的目的:

在缺乏已知的遗传改变的脑膜瘤中识别新的分子驱动因素.
为了研究这些瘤中""信号激活的机制.

主要方法:

在脑膜瘤样本上进行了全基因组测序和结构变异分析.
分析的重点是确定复发的体质结构变异及其对基因表达的影响.
染色素相互作用研究 (例如,Hi-C) 用于调查增强剂-促进剂相互作用.

主要成果:

在没有已知驱动因素的脑膜瘤中,35.6%的脑膜瘤在染色体2q35和7q36.3.3上存在体质结构变异.
这些变异导致了刺联体,印度刺 (IHH) 和索尼克刺 (SHH) 的异位表达.
涉及IHH的反复发生的并列重复促进了DIRC3中与超级增强剂的新型染色质相互作用,激活了该途径.

结论:

影响染色体2q35和7q36.3的体质结构变异是脑膜瘤的一个子集中的重要驱动因素.
加强器劫持的刺配体 (IHH,SHH) 代表了一种新的机制,用于途径激活在瘤.
这项研究扩展了已知的脑膜瘤发病的分子景观.

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