Noncoding Variants Connect Enhancer Dysregulation with Nuclear Receptor Signaling in Hematopoietic Malignancies

非编码变异将增强子失调与造血系统恶性肿瘤中的核受体信号传导联系起来

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作者:Kailong Li #, Yuannyu Zhang #, Xin Liu #, Yuxuan Liu #, Zhimin Gu, Hui Cao, Kathryn E Dickerson, Mingyi Chen, Weina Chen, Zhen Shao, Min Ni, Jian Xu

Significance

We describe an integrative approach to identify noncoding variants in human leukemia, and reveal cohorts of variant-associated oncogenic and tumor-suppressive cis-regulatory elements including KRAS and PER2 enhancers. Our findings support a model in which noncoding regulatory variants connect enhancer dysregulation with nuclear receptor signaling to modulate gene programs in hematopoietic malignancies.See related commentary by van Galen, p. 646.This article is highlighted in the In This Issue feature, p. 627.

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