Identifying and characterizing regulatory sequences in the human genome with chromatin accessibility assays.

Identifying and characterizing regulatory sequences in the human genome with chromatin accessibility assays.
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DOI:
10.3390/genes3040651
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发表时间:
2012-10-15
期刊:
影响因子:
3.5
通讯作者:
Furey TS
Furey TS
中科院分区:
生物学3区
文献类型:
--
作者:
Sheffield NC;Furey TS

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在2002年完成人类基因组参考序列后,基因组学界转向了解释它的任务。一个主要的焦点是不仅识别和表征编码蛋白质的基因,而且识别和表征基因组中的所有功能元件。这项工作既包括个人研究人员,也包括大型项目,如DNA元素百科全书(ENCODE)项目。作为encode项目的一部分,几个小组已经使用dnase-seq和faire-seq实验确定了数百种人类细胞类型中的数百万调控元件,这些实验检测了无核小体开放染色质的区域。ChIP-SEQ实验也被用于发现转录因子结合位点和映射组蛋白修饰。几乎所有已识别的元件都在非编码DNA中找到,这假设了以前未注释的序列的功能。在这篇综述中,我们概述了ENCODE定义调控元件的努力,总结了主要结果,并讨论了分布在整个基因组中的数百万调控元件的含义。
After finishing a human genome reference sequence in 2002, the genomics community has turned to the task of interpreting it. A primary focus is to identify and characterize not only protein-coding genes, but all functional elements in the genome. The effort includes both individual investigators and large-scale projects like the Encyclopedia of DNA Elements (ENCODE) project. As part of the ENCODE project, several groups have identified millions of regulatory elements in hundreds of human cell-types using DNase-seq and FAIRE-seq experiments that detect regions of nucleosome-free open chromatin. ChIP-seq experiments have also been used to discover transcription factor binding sites and map histone modifications. Nearly all identified elements are found in non-coding DNA, hypothesizing a function for previously unannotated sequence. In this review, we provide an overview of the ENCODE effort to define regulatory elements, summarize the main results, and discuss implications of the millions of regulatory elements distributed throughout the genome.
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