ENCODE

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ENCODE
File:ENCODE logo.png
内容
相關信息
研究中心 聖塔克魯茲加利福尼亞大學
实验室 分子生物科學及工程中心
創始人 Brian J Raney[1]
发布日期 2010年
访问入口
网站 encodeproject.org
工具
其他

DNA元件百科全书英语Encyclopedia of DNA Elements,简称为ENCODE计划)是一个由美国国家人类基因组研究所在2003年9月发起的一项公共联合研究项目[2],旨在找出人类基因组中所有功能组件[1][3][4][5]。这是既完成人类基因组计划后国家人类基因组研究所开始的最重要的项目之一。所有在该项目中产生的数据都会被迅速的在公共数据库中公开。

2012年9月5日,该项目的初步结果被整理为30篇论文并发表于《自然》、《基因组生物学》及《基因组研究》中[6][7]。这些发表的论文显示人类基因组内的非编码DNA至少80%是有生物活性的,而非像之前认为的仅仅是“垃圾”。这个结果非常重要,因为人类基因组中98%的DNA是非编码的,意味着它们并不直接编码任何蛋白质序列。

动机及意义[编辑]

人类大概有20,000条编码蛋白质的基因(总称为外显子组),它们一共加起来只占人类基因组DNA序列的约1.5%。ENCODE计划的主要目的即是鉴定基因组其他组成成分所扮演的角色,这其中大多数曾被认为是“垃圾”(即不进行转录且不具备生物学功能的DNA)。

人类基因组中约90%的單核苷酸多態性(经全基因组关联分析鉴定出的与各类疾病有关的SNP)位于蛋白编码区域之外[8]

蛋白编码基因的活性及表达水平可受调控组调节,后者包含多种DNA元件,如启动子、转录调控序列与染色质结构和组蛋白修饰区域。目前认为对基因活性进行调节可使蛋白产物及细胞进程发生改变并最终导致疾病ENCODE Project Background)。弄明白这些调控元件的位置及它们如何影响基因转录将揭示特定基因表达变异以及疾病的发生[9]

ENCODE is intended as a comprehensive resource to allow the scientific community to better understand how the genome can affect human health, and to "stimulate the development of new therapies to prevent and treat these diseases".[10]

To date, the project has facilitated the identification of novel DNA regulatory elements, providing new insights into the organization and regulation of our genes and genome, and how differences in DNA sequence could influence disease.[8] One main accomplishment described by the Consortium has been that 80% of the human genome is now "associated with at least one biochemical function".[11][12] Much of this functional non-coding DNA is involved in the regulation of the expression of coding genes.[11] Furthermore the expression of each coding gene is controlled by multiple regulatory sites located both near and distant from the gene. These results demonstrate that gene regulation is far more complex than was previously believed.[13]

参考文献[编辑]

  1. ^ 1.0 1.1 Raney BJ, Cline MS, Rosenbloom KR, Dreszer TR, Learned K, Barber GP, Meyer LR, Sloan CA, Malladi VS, Roskin KM, Suh BB, Hinrichs AS, Clawson H, Zweig AS, Kirkup V, Fujita PA, Rhead B, Smith KE, Pohl A, Kuhn RM, Karolchik D, Haussler D, Kent, WJ. ENCODE whole-genome data in the UCSC genome browser (2011 update). Nucleic Acids Res. 2011.January, 39 (Database issue): D871–5. doi:10.1093/nar/gkq1017. PMC 3013645. PMID 21037257. 
  2. ^ Maher B. ENCODE: The human encyclopaedia. Nature. 2012, 489 (7414): 46–48. doi:10.1038/489046a. 
  3. ^ ENCODE Project Consortium. A User's Guide to the Encyclopedia of DNA Elements (ENCODE). (编) Becker PB. PLoS Biology. 2011, 9 (4): e1001046. doi:10.1371/journal.pbio.1001046. PMC 3079585. PMID 21526222.  编辑
  4. ^ ENCODE Project Consortium, Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH, Weng Z, Snyder M, Dermitzakis ET, et al.. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007, 447 (7146): 799–816. Bibcode:2007Natur.447..799B. doi:10.1038/nature05874. PMC 2212820. PMID 17571346.  编辑
  5. ^ Guigó R, Flicek P, Abril JF, Reymond A, Lagarde J, Denoeud F, Antonarakis S, Ashburner M, Bajic VB, Birney E, Castelo R, Eyras E, Ucla C, Gingeras TR, Harrow J, Hubbard T, Lewis SE, Reese MG. EGASP: The human ENCODE Genome Annotation Assessment Project. Genome Biology. 2006, 7: S2. doi:10.1186/gb-2006-7-s1-s2. PMC 1810551. PMID 16925836.  编辑
  6. ^ ENCODE project at UCSC. ENCODE Consortium. [2012-09-05]. 
  7. ^ Walsh, Fergus. Detailed map of genome function. BBC News. 2012-09-05 [2012-09-06]. (原始内容存档于2012-09-06). 
  8. ^ 8.0 8.1 Maher B. ENCODE: The human encyclopaedia. Nature. September 2012, 489 (7414): 46–8. doi:10.1038/489046a. PMID 22962707. 
  9. ^ Saey, Tina Hesman. Team releases sequel to the human genome. Society for Science & the Public. 6 October 2012 [18 October 2012]. 
  10. ^ The ENCODE Project Consortium. The ENCODE (ENCyclopedia Of DNA Elements) Project. Science. 2004. 
  11. ^ 11.0 11.1 Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M. An integrated encyclopedia of DNA elements in the human genome. Nature. September 2012, 489 (7414): 57–74. Bibcode:2012Natur.489...57T. doi:10.1038/nature11247. PMID 22955616. 
  12. ^ Timmer J. Most of what you read was wrong: how press releases rewrote scientific history. Staff / From the Minds of Ars. Ars Technica. 2012-09-10 [2012-09-10]. 
  13. ^ Pennisi E. Genomics. ENCODE project writes eulogy for junk DNA. Science. September 2012, 337 (6099): 1159, 1161. doi:10.1126/science.337.6099.1159. PMID 22955811. 

外部链接[编辑]