GSTDTAP
DOI10.1126/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
ISSN0036-8075
EISSN1095-9203
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-+.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Nott, Alexi]的文章
[39;Connor, Carolyn]的文章
百度学术
百度学术中相似的文章
[Nott, Alexi]的文章
[39;Connor, Carolyn]的文章
必应学术
必应学术中相似的文章
[Nott, Alexi]的文章
[39;Connor, Carolyn]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。