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全基因组范围内对药物依赖型人类肝脏调控元件的发现。

Genome-wide discovery of drug-dependent human liver regulatory elements.

作者信息

Smith Robin P, Eckalbar Walter L, Morrissey Kari M, Luizon Marcelo R, Hoffmann Thomas J, Sun Xuefeng, Jones Stacy L, Force Aldred Shelley, Ramamoorthy Anuradha, Desta Zeruesenay, Liu Yunlong, Skaar Todd C, Trinklein Nathan D, Giacomini Kathleen M, Ahituv Nadav

机构信息

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, United States of America; Institute for Human Genetics, University of California, San Francisco, San Francisco, California, United States of America.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, California, United States of America.

出版信息

PLoS Genet. 2014 Oct 2;10(10):e1004648. doi: 10.1371/journal.pgen.1004648. eCollection 2014 Oct.

Abstract

Inter-individual variation in gene regulatory elements is hypothesized to play a causative role in adverse drug reactions and reduced drug activity. However, relatively little is known about the location and function of drug-dependent elements. To uncover drug-associated elements in a genome-wide manner, we performed RNA-seq and ChIP-seq using antibodies against the pregnane X receptor (PXR) and three active regulatory marks (p300, H3K4me1, H3K27ac) on primary human hepatocytes treated with rifampin or vehicle control. Rifampin and PXR were chosen since they are part of the CYP3A4 pathway, which is known to account for the metabolism of more than 50% of all prescribed drugs. We selected 227 proximal promoters for genes with rifampin-dependent expression or nearby PXR/p300 occupancy sites and assayed their ability to induce luciferase in rifampin-treated HepG2 cells, finding only 10 (4.4%) that exhibited drug-dependent activity. As this result suggested a role for distal enhancer modules, we searched more broadly to identify 1,297 genomic regions bearing a conditional PXR occupancy as well as all three active regulatory marks. These regions are enriched near genes that function in the metabolism of xenobiotics, specifically members of the cytochrome P450 family. We performed enhancer assays in rifampin-treated HepG2 cells for 42 of these sequences as well as 7 sequences that overlap linkage-disequilibrium blocks defined by lead SNPs from pharmacogenomic GWAS studies, revealing 15/42 and 4/7 to be functional enhancers, respectively. A common African haplotype in one of these enhancers in the GSTA locus was found to exhibit potential rifampin hypersensitivity. Combined, our results further suggest that enhancers are the predominant targets of rifampin-induced PXR activation, provide a genome-wide catalog of PXR targets and serve as a model for the identification of drug-responsive regulatory elements.

摘要

基因调控元件的个体间差异被认为在药物不良反应和药物活性降低中起因果作用。然而,关于药物依赖性元件的位置和功能,我们所知相对较少。为了在全基因组范围内发现与药物相关的元件,我们使用抗孕烷X受体(PXR)抗体以及三种活性调控标记(p300、H3K4me1、H3K27ac),对用利福平或载体对照处理的原代人肝细胞进行了RNA测序和染色质免疫沉淀测序(ChIP-seq)。选择利福平和PXR是因为它们是细胞色素P450 3A4(CYP3A4)途径的一部分,已知该途径参与了超过50%的所有处方药的代谢。我们为具有利福平依赖性表达的基因或附近的PXR/p300占据位点选择了227个近端启动子,并检测它们在利福平处理的HepG2细胞中诱导荧光素酶的能力,结果发现只有10个(4.4%)表现出药物依赖性活性。由于这一结果表明远端增强子模块发挥了作用,我们进行了更广泛的搜索,以识别1297个具有条件性PXR占据以及所有三种活性调控标记的基因组区域。这些区域在参与外源性物质代谢的基因附近富集,特别是细胞色素P450家族的成员。我们对其中42个序列以及7个与药物基因组全基因组关联研究(GWAS)中先导单核苷酸多态性(SNP)定义的连锁不平衡块重叠的序列,在利福平处理的HepG2细胞中进行了增强子分析,结果分别显示15/42和4/7是功能性增强子。在谷胱甘肽S-转移酶A(GSTA)基因座的这些增强子之一中,发现一种常见的非洲单倍型表现出潜在的利福平超敏反应。综合来看,我们的结果进一步表明增强子是利福平诱导的PXR激活的主要靶点,提供了全基因组的PXR靶点目录,并为识别药物反应性调控元件提供了一个模型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1450/4183418/17dadb3a8f8f/pgen.1004648.g001.jpg

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本文引用的文献

1
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2.
Genome Biol. 2014;15(12):550. doi: 10.1186/s13059-014-0550-8.
2
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations.
Nucleic Acids Res. 2014 Jan;42(Database issue):D1001-6. doi: 10.1093/nar/gkt1229. Epub 2013 Dec 6.
4
Regulation of microRNA expression by rifampin in human hepatocytes.
Drug Metab Dispos. 2013 Oct;41(10):1763-8. doi: 10.1124/dmd.113.052886. Epub 2013 Aug 9.
6
Regulatory polymorphisms in CYP2C19 affecting hepatic expression.
Drug Metabol Drug Interact. 2013;28(1):23-30. doi: 10.1515/dmdi-2012-0038.
7
NGSUtils: a software suite for analyzing and manipulating next-generation sequencing datasets.
Bioinformatics. 2013 Feb 15;29(4):494-6. doi: 10.1093/bioinformatics/bts731. Epub 2013 Jan 12.
9
Pharmacogenomics knowledge for personalized medicine.
Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96.
10
Linking disease associations with regulatory information in the human genome.
Genome Res. 2012 Sep;22(9):1748-59. doi: 10.1101/gr.136127.111.

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