2012年9月6日 訊 /生物谷BIOON/ --近日，國(guó)家人類基因組研究所公布了一項(xiàng)長(zhǎng)達(dá)5年的關(guān)于人類基因組調(diào)節(jié)和結(jié)構(gòu)組成的研究報(bào)告,，這項(xiàng)計(jì)劃名為ENCODE,，其代表的意思是DNA元件百科全書（Encyclopedia of DNA Elements）,，刊登在近期國(guó)際雜志Journal of Biological Chemistry上的研究論文報(bào)告了研究發(fā)現(xiàn)的其中一些內(nèi)容,。
“ENCODE計(jì)劃不僅僅產(chǎn)生了大量機(jī)體的基因組數(shù)據(jù),，而且其也分析了很多組織的信息以便我們更好地理解不同類型細(xì)胞中的基因組功能。這些綜合型分析的結(jié)果揭示了機(jī)體的分子機(jī)器如何進(jìn)行反應(yīng),，以及解釋了DNA如何工作產(chǎn)生蛋白質(zhì),，以及RNAs為什么對(duì)于機(jī)體非常重要，”來(lái)自賓夕法尼亞大學(xué)的研究者Ross Hardison這樣說(shuō),，該研究者是該文章的第一作者,。
人類基因組包括了30億個(gè)DNA堿基對(duì)，但是僅僅有很小一部分DNA來(lái)負(fù)責(zé)編碼產(chǎn)生蛋白質(zhì),。剩余的遺傳信息的角色和功能目前并不清楚,，這些剩余的DNA序列被稱為無(wú)用的DNA序列。但是ENCODE研究計(jì)劃的結(jié)果填補(bǔ)了這一信息空缺,，這個(gè)計(jì)劃的研究結(jié)果揭示了超過(guò)80%的人類基因組都和生物學(xué)功能直接相關(guān),。
本文的研究主要闡述了調(diào)節(jié)基因開關(guān)表達(dá)的蛋白質(zhì)的相關(guān)信息，這些蛋白質(zhì)可以在離目的基因一定的距離處對(duì)目的基因進(jìn)行調(diào)節(jié)，而且其在與之反應(yīng)的染色體上也確定了具體的位點(diǎn),，在特定位點(diǎn)上對(duì)DNA的修飾可以影響基因的表達(dá),，而且RNA的這種功能形式可以調(diào)節(jié)遺傳信息的相關(guān)表達(dá)。
研究者Hardison表示,，來(lái)自這項(xiàng)計(jì)劃中關(guān)于基因調(diào)節(jié)的深入只是將會(huì)對(duì)未來(lái)醫(yī)療科學(xué)有正促進(jìn)的影響,，比如近日的遺傳研究揭示了許多基因組位點(diǎn)，其可以影響一個(gè)人對(duì)于普通疾病的敏感性,。這項(xiàng)計(jì)劃也解釋了涉及基因調(diào)節(jié)的許多區(qū)域,，而且這些數(shù)據(jù)為理解這些區(qū)域的突變?nèi)绾斡绊懠膊〉拿舾行蕴峁┝讼鄳?yīng)的假設(shè)。
這項(xiàng)計(jì)劃背后,，研究者付出的努力非常之大,，其中包括了美國(guó)、英國(guó),、西班牙,、新加坡和日本的32個(gè)實(shí)驗(yàn)室超過(guò)440個(gè)科學(xué)家的努力，研究者在147個(gè)不同類型的組織中進(jìn)行了超過(guò)1600次單獨(dú)試驗(yàn),，研究結(jié)果于近日刊登在了國(guó)際主流雜志上,，5篇刊登于Nature上，18篇刊登于Genome Research上,，以及6篇刊登于Genome Biology上,。（生物谷Bioon.com）
生物谷特別專題：ENCODE-人類基因組詳圖問(wèn)世
編譯自：Major Advances in Understanding the Regulation and Organization of the Human Genome
doi:10.1074/jbc.R112.365940
PMC:
PMID:
Introduction to the Thematic Minireview Series on results from the ENCODE Project: Integrative global analyses of regulatory regions in the human genome
Peggy J. Farnham
The Encyclopedia of DNA Elements (ENCODE) Project (www.encodeproject.org) is an international collaboration of research groups funded by the National Human Genome Research Institute, with the goal of delineating all functional elements encoded in the human genome. This project began in 2003 with a targeted analysis of a selected 1% of the human genome. The results from the pilot project were published in 2007 and a second phase of funding was then provided to scale the project to the entire human genome. Genome-scale projects in ENCODE involve the identification and quantification of RNA species in whole cells and subcellular compartments, mapping of protein-coding and non-coding genes by manual review and experimental methods, delineation of chromatin and DNA accessibility, mapping of histone modifications and transcription factor binding sites by chromatin immunoprecipitation (ChIP), and measurement of DNA methylation. More recently, ENCODE has adopted additional approaches that have not yet resulted in extensive datasets, including the examination of long-range chromatin interactions, the analysis of RNA binding proteins, and the validation of transcriptional enhancers and silencers. To date, more than 2000 datasets have been deposited for public use by the ENCODE Project at the University of California Santa Cruz (UCSC) Genome Browser; to encourage public use of the datasets, a “user’s guide” to the ENCODE datasets has been published. As the second phase of the ENCODE Project nears completion, the ENCODE Consortium has prepared a large, integrative manuscript that includes analyses of experiments from 147 cell types and provides a summary of their functional annotation of the human genome. Additionally, other more narrowly focused studies on subsets of ENCODE data have been or will soon be published; for a list of ENCODE publications, see http://genome-preview.ucsc.edu/ENCODE/pubs.html).
