Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk
文献类型：期刊论文
| 作者 | Huo, YX; Li, SW; Liu, JW; Li, XY; Luo, XJ |
| 刊名 | NATURE COMMUNICATIONS
 |
| 出版日期 | 2019 |
| 卷号 | 10 |
| ISSN号 | 2041-1723 |
| 英文摘要 | Genome-wide association studies (GWASs) have identified over 180 independent schizophrenia risk loci. Nevertheless, how the risk variants in the reported loci confer schizophrenia susceptibility remains largely unknown. Here we systematically investigate the gene regulatory mechanisms underpinning schizophrenia risk through integrating data from functional genomics (including 30 ChIP-Seq experiments) and position weight matrix (PWM). We identify 132 risk single nucleotide polymorphisms (SNPs) that disrupt transcription factor binding and we find that 97 of the 132 TF binding-disrupting SNPs are associated with gene expression in human brain tissues. We validate the regulatory effect of some TF binding-disrupting SNPs with reporter gene assays (9 SNPs) and allele-specific expression analysis (10 SNPs). Our study reveals gene regulatory mechanisms affected by schizophrenia risk SNPs (including widespread disruption of POLR2A and CTCF binding) and identifies target genes for mechanistic studies and drug development. Our results can be accessed and visualized at SZDB database (http://www.szdb.org/). |
| 语种 | 英语 |
| 源URL | [http://ir.kiz.ac.cn:8080/handle/152453/12455]  |
| 专题 | 昆明动物研究所_神经系统疾病 |
| 推荐引用方式 GB/T 7714 | Huo, YX,Li, SW,Liu, JW,et al. Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk[J]. NATURE COMMUNICATIONS,2019,10. |
| APA | Huo, YX,Li, SW,Liu, JW,Li, XY,&Luo, XJ.(2019).Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk.NATURE COMMUNICATIONS,10. |
| MLA | Huo, YX,et al."Functional genomics reveal gene regulatory mechanisms underlying schizophrenia risk".NATURE COMMUNICATIONS 10(2019). |
入库方式： OAI收割
来源：昆明动物研究所
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