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DOI | 10.1126/science.aay0793 |
Brain cell type-specific enhancer-promoter interactome maps and disease-risk association | |
Nott, Alexi1; 39;Connor, Carolyn2 | |
2019-11-29 | |
发表期刊 | SCIENCE |
ISSN | 0036-8075 |
EISSN | 1095-9203 |
出版年 | 2019 |
卷号 | 366期号:6469页码:1134-+ |
文章类型 | Article |
语种 | 英语 |
国家 | USA; Netherlands; Canada |
英文摘要 | Noncoding genetic variation is a major driver of phenotypic diversity, but functional interpretation is challenging. To better understand common genetic variation associated with brain diseases, we defined noncoding regulatory regions for major cell types of the human brain. Whereas psychiatric disorders were primarily associated with variants in transcriptional enhancers and promoters in neurons, sporadic Alzheimer's disease (AD) variants were largely confined to microglia enhancers. Interactome maps connecting disease-risk variants in cell-type-specific enhancers to promoters revealed an extended microglia gene network in AD. Deletion of a microglia-specific enhancer harboring AD-risk variants ablated BIN1 expression in microglia, but not in neurons or astrocytes. These findings revise and expand the list of genes likely to be influenced by noncoding variants in AD and suggest the probable cell types in which they function. |
领域 | 地球科学 ; 气候变化 ; 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000500039200044 |
WOS关键词 | GENOME ; ASTROCYTES ; GENERATION ; VARIANTS ; REVEALS ; LOCI |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/226323 |
专题 | 环境与发展全球科技态势 |
作者单位 | 1.Univ Calif San Diego, Dept Cellular & Mol Biol, La Jolla, CA 92093 USA; 2.Univ Groningen, Univ Med Ctr Groningen, Dept Biomed Sci Cells & Syst, Sect Mol Neurobiol, NL-9713 AB Groningen, Netherlands; 3.Salk Inst Biol Studies, Genet Lab, La Jolla, CA 92037 USA; 4.Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA; 5.Ludwig Inst Canc Res, La Jolla, CA 92093 USA; 6.Salk Inst Biol Studies, Flow Cytometry Core Facil, 10010 N Torrey Pines Rd, La Jolla, CA 92037 USA; 7.Univ Calif San Diego, Dept Bioengn, La Jolla, CA 92093 USA; 8.Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA; 9.Vet Affairs San Diego Healthcare Syst, San Diego, CA 92161 USA; 10.Univ Laval, Ctr Rech, Ctr Hosp Univ Quebec, Dept Med Mol,Fac Med, Quebec City, PQ G1V 4G2, Canada; 11.Univ Calif San Diego, Rady Childrens Hosp, Dept Neurosurg, San Diego, CA 92123 USA; 12.Univ Calif San Diego, Howard Hughes Med Inst, Dept & Sch Med, La Jolla, CA 92093 USA; 13.Salk Inst Biol Studies, 10010 N Torrey Pines Rd, La Jolla, CA 92037 USA; 14.Univ Calif San Diego, Sch Med, Ctr Epigen, Dept Cellular & Mol Med, La Jolla, CA 92093 USA; 15.Univ Calif San Diego, Dept Med, La Jolla, CA 92093 USA |
推荐引用方式 GB/T 7714 | Nott, Alexi,39;Connor, Carolyn. Brain cell type-specific enhancer-promoter interactome maps and disease-risk association[J]. SCIENCE,2019,366(6469):1134-+. |
APA | Nott, Alexi,&39;Connor, Carolyn.(2019).Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.SCIENCE,366(6469),1134-+. |
MLA | Nott, Alexi,et al."Brain cell type-specific enhancer-promoter interactome maps and disease-risk association".SCIENCE 366.6469(2019):1134-+. |
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