Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.
Computational Biology Research Group, Weatherall Institute of Molecular Medicine, Oxford University, Oxford, UK.
Nat Genet. 2014 Feb;46(2):205-12. doi: 10.1038/ng.2871. Epub 2014 Jan 12.
Gene expression during development and differentiation is regulated in a cell- and stage-specific manner by complex networks of intergenic and intragenic cis-regulatory elements whose numbers and representation in the genome far exceed those of structural genes. Using chromosome conformation capture, it is now possible to analyze in detail the interaction between enhancers, silencers, boundary elements and promoters at individual loci, but these techniques are not readily scalable. Here we present a high-throughput approach (Capture-C) to analyze cis interactions, interrogating hundreds of specific interactions at high resolution in a single experiment. We show how this approach will facilitate detailed, genome-wide analysis to elucidate the general principles by which cis-acting sequences control gene expression. In addition, we show how Capture-C will expedite identification of the target genes and functional effects of SNPs that are associated with complex diseases, which most frequently lie in intergenic cis-acting regulatory elements.
在发育和分化过程中,基因表达受到基因间和基因内顺式调控元件的复杂网络的调控,这些元件的数量及其在基因组中的表达远远超过结构基因。利用染色体构象捕获技术,现在可以详细分析单个基因座上增强子、沉默子、边界元件和启动子之间的相互作用,但这些技术不易扩展。在这里,我们提出了一种高通量的方法(Capture-C)来分析顺式相互作用,在单个实验中以高分辨率检测数百个特定的相互作用。我们展示了这种方法将如何促进详细的、全基因组分析,以阐明顺式作用序列控制基因表达的一般原则。此外,我们还展示了 Capture-C 如何加速鉴定与复杂疾病相关的 SNP 的靶基因和功能效应,这些 SNP 大多数位于基因间顺式作用调控元件中。