Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

The Wider View from a Detailed Focus: New Project challenges conventional view of genome biology

14.06.2007
A major study of the organization and regulation of the human genome published today changes our concept of how our genome works. The integrated study is an exhaustive analysis of 1% of the genome that, for the first time, gives an extensive view of genetic activity alongside the cellular machinery that allows DNA to be read and replicated.

The lead report from the ENCyclopedia Of DNA Elements (ENCODE) Consortium, published in Nature, together with 28 companion papers published in Genome Research, defined in detail which regions of the genome are actively copied in the cell, revealed the location and studied evolution of elements that control gene activity, and defined the relationship between DNA-associated proteins and gene activity and DNA replication.

The complex tapestry of interwoven elements revealed today suggests that "our perspective of transcription and genes may have to evolve," the researchers state, noting that their research "poses some interesting mechanistic questions" that have yet to be answered.

Our understanding of genome biology from the Human Genome Project gave us an overview of a 3-billion-base genome, peppered with some 22,000 discrete genes and the sequences that regulate their activity. These were estimated to occupy perhaps 3-5% of the genome, though this number is expected to be an underestimate.

... more about:
»Cell »DNA »DNA sequence »ENCODE »Genom »Regulation »transcription

"The new view transforms our view of the genomic fabric," explained Dr Tim Hubbard, from the Wellcome Trust Sanger Institute, "The majority of the genome is copied, or transcribed, into RNA, which is the active molecule in our cells, relaying information from the archival DNA copy to the cellular machinery. This is a remarkable finding, since most prior research suggested only a fraction of the genome was transcribed."

"But it is our new understanding of regulation of genes that stands out. The integrated approach has helped us to identify new regions of gene regulation and altered our view of how gene regulation occurs."

From the earliest studies of gene activity in bacteria, a picture emerged that suggested control regions were most often located at or near sites from which gene transcription started. The new work identifies many previously unknown control regions and shows that control regions are as likely to be beyond the end of the gene.

Alterations in control regions are increasingly thought to be of significance for human disease, Dr Dermitzakis from the Wellcome Trust Sanger Institute and one of the corresponding authors on the paper explained: "For the first time we can see DNA sequence variation in the context of the biochemical workings of the cell. We can now begin to unravel the consequences that such variations hold for individuals and their susceptibility to disease."

The team showed that transcription of DNA is pervasive across the genome, and that RNA transcripts overlap known genes and are found in what were previously thought to be gene ‘deserts'.

"A major surprise was that many of the novel control regions are not shared with other species, but restricted to our human genome," continued Dr Dermitzakis. "We appear to have a reservoir of active elements that seem to provide no specific or direct benefit.

"Our suggestion is that these elements can provide a source for new variation between species and within the human genome. This is our genomic seedcorn for the future. "

The scale of the collaboration brings new understanding of the interaction between our genome and the proteins that control gene activity and DNA replication. The results show that proteins called histones that bind DNA to package it within the cell nucleus are modified to promote or inhibit gene activity and can be used to predict better the location of novel genes.

"Specific types of modifications of the histone proteins near gene starts are a strong predictor of gene activity," explained Dr Ian Dunham, from the Wellcome Trust Sanger Institute, "whereas further histone modifications at sites away from genes appear to be a signature of regulatory elements that can enhance transcription." A detailed analysis of these effects is also published by the Sanger Institute group in one of the companion papers in Genome Research.

"It is only from a study such as ENCODE that we can obtain such a valuable detailed view of our genome. This project has been a magnificent collaboration amongst some of the world's premier genome scientists, and has revealed many new insights. There is every expectation that a great deal more will be revealed as the project scales to the whole genome."

Although much that is new has been discovered, much yet remains to be understood. Similarity of DNA sequence between species is often a sign of the value of that sequence, yet a function has not been found for many DNA sequences that are conserved. The role of the massive new numbers of RNA transcripts is unknown. And the function of the large number of control elements is yet to be elucidated.

The ENCODE consortium is organized by the National Human Genome Research Institute (NHGRI), whose Director, Francis S Collins, MD PhD, said: "This impressive effort has uncovered many exciting surprises and blazed the way for future efforts to explore the functional landscape of the entire human genome.

"Because of the hard work and keen insights of the ENCODE consortium, the scientific community will need to rethink some long-held views about what genes are and what they do, as well as how the genome's functional elements have evolved. This could have significant implications for efforts to identify the DNA sequences involved in many human diseases."

Don Powell | alfa
Further information:
http://www.sanger.ac.uk

Further reports about: Cell DNA DNA sequence ENCODE Genom Regulation transcription

More articles from Life Sciences:

nachricht Transforming plant cells from generalists to specialists
07.12.2016 | Duke University

nachricht What happens in the cell nucleus after fertilization
06.12.2016 | Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Significantly more productivity in USP lasers

In recent years, lasers with ultrashort pulses (USP) down to the femtosecond range have become established on an industrial scale. They could advance some applications with the much-lauded “cold ablation” – if that meant they would then achieve more throughput. A new generation of process engineering that will address this issue in particular will be discussed at the “4th UKP Workshop – Ultrafast Laser Technology” in April 2017.

Even back in the 1990s, scientists were comparing materials processing with nanosecond, picosecond and femtosesecond pulses. The result was surprising:...

Im Focus: Shape matters when light meets atom

Mapping the interaction of a single atom with a single photon may inform design of quantum devices

Have you ever wondered how you see the world? Vision is about photons of light, which are packets of energy, interacting with the atoms or molecules in what...

Im Focus: Novel silicon etching technique crafts 3-D gradient refractive index micro-optics

A multi-institutional research collaboration has created a novel approach for fabricating three-dimensional micro-optics through the shape-defined formation of porous silicon (PSi), with broad impacts in integrated optoelectronics, imaging, and photovoltaics.

Working with colleagues at Stanford and The Dow Chemical Company, researchers at the University of Illinois at Urbana-Champaign fabricated 3-D birefringent...

Im Focus: Quantum Particles Form Droplets

In experiments with magnetic atoms conducted at extremely low temperatures, scientists have demonstrated a unique phase of matter: The atoms form a new type of quantum liquid or quantum droplet state. These so called quantum droplets may preserve their form in absence of external confinement because of quantum effects. The joint team of experimental physicists from Innsbruck and theoretical physicists from Hannover report on their findings in the journal Physical Review X.

“Our Quantum droplets are in the gas phase but they still drop like a rock,” explains experimental physicist Francesca Ferlaino when talking about the...

Im Focus: MADMAX: Max Planck Institute for Physics takes up axion research

The Max Planck Institute for Physics (MPP) is opening up a new research field. A workshop from November 21 - 22, 2016 will mark the start of activities for an innovative axion experiment. Axions are still only purely hypothetical particles. Their detection could solve two fundamental problems in particle physics: What dark matter consists of and why it has not yet been possible to directly observe a CP violation for the strong interaction.

The “MADMAX” project is the MPP’s commitment to axion research. Axions are so far only a theoretical prediction and are difficult to detect: on the one hand,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ICTM Conference 2017: Production technology for turbomachine manufacturing of the future

16.11.2016 | Event News

Innovation Day Laser Technology – Laser Additive Manufacturing

01.11.2016 | Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

 
Latest News

Predicting unpredictability: Information theory offers new way to read ice cores

07.12.2016 | Earth Sciences

Sea ice hit record lows in November

07.12.2016 | Earth Sciences

New material could lead to erasable and rewriteable optical chips

07.12.2016 | Materials Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>