CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, 1090 Vienna, Austria.
Faculty of Medicine, Cancer Sciences, University of Southampton, Southampton SO17 1BJ, UK.
Nat Commun. 2016 Jun 27;7:11938. doi: 10.1038/ncomms11938.
Chronic lymphocytic leukaemia (CLL) is characterized by substantial clinical heterogeneity, despite relatively few genetic alterations. To provide a basis for studying epigenome deregulation in CLL, here we present genome-wide chromatin accessibility maps for 88 CLL samples from 55 patients measured by the ATAC-seq assay. We also performed ChIPmentation and RNA-seq profiling for ten representative samples. Based on the resulting data set, we devised and applied a bioinformatic method that links chromatin profiles to clinical annotations. Our analysis identified sample-specific variation on top of a shared core of CLL regulatory regions. IGHV mutation status-which distinguishes the two major subtypes of CLL-was accurately predicted by the chromatin profiles and gene regulatory networks inferred for IGHV-mutated versus IGHV-unmutated samples identified characteristic differences between these two disease subtypes. In summary, we discovered widespread heterogeneity in the chromatin landscape of CLL, established a community resource for studying epigenome deregulation in leukaemia and demonstrated the feasibility of large-scale chromatin accessibility mapping in cancer cohorts and clinical research.
慢性淋巴细胞白血病(CLL)的特征是具有很大的临床异质性,尽管其遗传改变相对较少。为了为研究 CLL 中的表观基因组失调提供基础,我们在此通过 ATAC-seq 测定法为 55 名患者的 88 个 CLL 样本提供了全基因组染色质可及性图谱。我们还对十个有代表性的样本进行了 ChIPmentation 和 RNA-seq 分析。基于由此产生的数据集,我们设计并应用了一种将染色质图谱与临床注释联系起来的生物信息学方法。我们的分析确定了在共享的 CLL 调控区域核心之上的样本特异性变异。IGHV 突变状态(区分 CLL 的两个主要亚型)可通过为 IGHV 突变型与 IGHV 未突变型样本推断的染色质图谱和基因调控网络准确预测,确定了这两种疾病亚型之间的特征差异。总之,我们发现 CLL 染色质景观中存在广泛的异质性,为研究白血病中的表观基因组失调建立了一个社区资源,并证明了在癌症队列和临床研究中进行大规模染色质可及性作图的可行性。