Peking-Tsinghua Center for Life Sciences, Academy for Advanced Interdisciplinary Studies; School of Life Sciences, Peking University, Beijing, China.
School of Life Sciences, Tsinghua University, Beijing, China.
Sci Rep. 2016 Oct 13;6:34651. doi: 10.1038/srep34651.
Chromosomal rearrangement (CR) events have been implicated in many tumor and non-tumor human diseases. CR events lead to their associated diseases by disrupting gene and protein structures. Also, they can lead to diseases through changes in chromosomal 3D structure and gene expression. In this study, we search for CR-associated diseases potentially caused by chromosomal 3D structure alteration by integrating Hi-C and ChIP-seq data. Our algorithm rediscovers experimentally verified disease-associated CRs (polydactyly diseases) that alter gene expression by disrupting chromosome 3D structure. Interestingly, we find that intellectual disability may be a candidate disease caused by 3D chromosome structure alteration. We also develop a Web server (3Disease Browser, http://3dgb.cbi.pku.edu.cn/disease/) for integrating and visualizing disease-associated CR events and chromosomal 3D structure.
染色体重排 (CR) 事件与许多肿瘤和非肿瘤人类疾病有关。CR 事件通过破坏基因和蛋白质结构导致相关疾病。此外，它们还可以通过改变染色体 3D 结构和基因表达导致疾病。在这项研究中，我们通过整合 Hi-C 和 ChIP-seq 数据，寻找可能由染色体 3D 结构改变引起的与 CR 相关的疾病。我们的算法重新发现了通过破坏染色体 3D 结构改变基因表达的实验验证的疾病相关 CR（多指畸形疾病）。有趣的是，我们发现智力障碍可能是由 3D 染色体结构改变引起的候选疾病。我们还开发了一个 Web 服务器 (3Disease Browser，http://3dgb.cbi.pku.edu.cn/disease/)，用于整合和可视化与疾病相关的 CR 事件和染色体 3D 结构。
