Reprogrammable CRISPR/dCas9-based recruitment of DNMT1 for site-specific DNA demethylation and gene regulation
文献类型：期刊论文
| 作者 | Lu, Anrui1,2; Wang, Jingman1,2; Huang, Weiren1; Cai, Zhiming1,4; Wang, Jin1; Sun, Weihong3; Huang, Weiren4; Zhao, Guoping5; Wang, Jin6; , |
| 刊名 | CELL DISCOVERY
 |
| 出版日期 | 2019 |
| 卷号 | 5期号:-页码:22 |
| ISSN号 | 2056-5968 |
| DOI | 10.1038/s41421-019-0090-1 |
| 文献子类 | Letter |
| 英文摘要 | Background Copy number variation (CNV) is a valuable source of genetic diversity in the human genome and a well-recognised cause of various genetic diseases. However, CNVs have been considerably under-represented in population-based studies, particularly the Han Chinese which is the largest ethnic group in the world. Objectives To build a representative CNV map for the Han Chinese population. Methods We conducted a genome-wide CNV study involving 451 male Han Chinese samples from 11 geographical regions encompassing 28 dialect groups, representing a less-biased panel compared with the currently available data. We detected CNVs by using 4.2M NimbleGen comparative genomic hybridisation array and whole-genome deep sequencing of 51 samples to optimise the filtering conditions in CNV discovery. Results A comprehensive Han Chinese CNV map was built based on a set of high-quality variants (positive predictive value >0.8, with sizes ranging from 369 bp to 4.16 Mb and a median of 5907 bp). The map consists of 4012 CNV regions (CNVRs), and more than half are novel to the 30 East Asian CNV Project and the 1000 Genomes Project Phase 3. We further identified 81 CNVRs specific to regional groups, which was indicative of the subpopulation structure within the Han Chinese population. Conclusions Our data are complementary to public data sources, and the CNV map may facilitate in the identification of pathogenic CNVs and further biomedical research studies involving the Han Chinese population. |
| 学科主题 | Cell Biology |
| WOS关键词 | METHYLATION |
| 语种 | 英语 |
| WOS记录号 | WOS:000466762100002 |
| 出版者 | NATURE PUBLISHING GROUP |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/1009]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Shenzhen Univ, Affiliated Hosp 1, Shenzhen Peoples Hosp 2, Sch Med,Carson Int Canc Ctr, Shenzhen 518039, Peoples R China; 2.Sun Yat Sen Univ, Canc Ctr, State Key Lab Oncol South China, Guangzhou 510060, Guangdong, Peoples R China; 3.Chinese Acad Sci, Shanghai Inst Biol Sci, Shanghai Inst Nutr & Hlth, Shanghai 200032, Peoples R China; 4.Guangdong Key Lab Syst Biol & Synthet Biol, Urogenital Tumors, Shenzhen 518035, Peoples R China; 5.Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Plant Physiol & Ecol, Key Lab Synthet Biol, Shanghai 200032, Peoples R China; 6.Shanghai Normal Univ, Coll Life & Environm Sci, Shanghai 200234, Peoples R China, |
| 推荐引用方式 GB/T 7714 | Lu, Anrui,Wang, Jingman,Huang, Weiren,et al. Reprogrammable CRISPR/dCas9-based recruitment of DNMT1 for site-specific DNA demethylation and gene regulation[J]. CELL DISCOVERY,2019,5(-):22. |
| APA | Lu, Anrui.,Wang, Jingman.,Huang, Weiren.,Cai, Zhiming.,Wang, Jin.,...&,.(2019).Reprogrammable CRISPR/dCas9-based recruitment of DNMT1 for site-specific DNA demethylation and gene regulation.CELL DISCOVERY,5(-),22. |
| MLA | Lu, Anrui,et al."Reprogrammable CRISPR/dCas9-based recruitment of DNMT1 for site-specific DNA demethylation and gene regulation".CELL DISCOVERY 5.-(2019):22. |
入库方式： OAI收割
来源：上海营养与健康研究所
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