Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists map out regulatory regions of genome, hot spots for diabetes genes

03.02.2010
The research, published online Jan. 31, 2010, in the journal Nature Genetics, presents the first high-resolution atlas of these regulatory elements in the most studied cell type for treatment and prevention of type II diabetes.

Together with colleagues in Barcelona, researchers at the University of North Carolina at Chapel Hill have generated a complete map of the areas of the genome that control which genes are “turned on” or “off.” The discovery, made in pancreatic islet cells, opens new avenues for understanding the genetic basis of type 2 diabetes and other common illnesses.

“Most of the human genome is uncharted territory – entire stretches of sequence with no clear function or purpose,” said Jason Lieb, Ph.D., associate professor of biology at UNC, a member of the UNC Lineberger Comprehensive Cancer Center and one of the senior authors of the study. “In fact, the majority of the DNA sequences associated with disease found thus far reside in the middle of nowhere. Here we have developed a map that can guide scientists to regions of the genome that do appear to be functionally relevant, instead of a dead end.”

The research, published online Jan. 31, 2010, in the journal Nature Genetics, presents the first high-resolution atlas of these regulatory elements in the most studied cell type for treatment and prevention of type II diabetes.

The completion of the human genome project has spurred a flurry of research into the exact genetic changes underlying disease. But while these studies have discovered thousands of sequences associated with human illness, pinpointing which sequence variations are the true culprits has proven difficult. That is because the underlying genetic sequence – the A, C, T, and G that code for your entire being – is only part of the story. It is not just the message, but the packaging – whether those four letters are laid out like an open book or tightly packaged like a message in a bottle – that determine which genes are active and which are not.

Using a new method developed in the Lieb laboratory called FAIRE-seq, Lieb and his colleagues isolated and sequenced a total of 80,000 open chromatin sites within pancreatic islet cells. They then compared these sites to those in non-islet cells to narrow the number down to 3,300 clusters of sites specific to this cell type. Each cluster typically encompassed single genes that are active specifically in islet cells. Twenty of these genes are known to harbor gene variants associated with type II diabetes.

The researchers decided to continue their studies on the variant most strongly associated with the disease, a single nucleotide polymorphism – or SNP – occurring in the TCF7L2 gene. They found that the chromatin is more open in the presence of the high risk version of the gene (a T) than in the presence of the non-risk version (an A). Further analysis demonstrated that the risk variant enhanced the activity of the gene, indicating that it may possess functional characteristics that could contribute to disease.

Lieb says his map is likely to help others within the diabetes research community identify new targets for understanding – and ultimately treating – the disease more effectively. But the approach is not limited to diabetes, or even pancreatic islet cells. He plans to use FAIRE-seq to chart the open chromatin regions present within other cells, such as the immune system’s lymphocytes.

The UNC research was funded in part by the National Institutes of Health. Study co-authors from UNC include Kyle J. Gaulton, Jeremy M. Simon, Paul G. Giresi, Marie P. Fogarty, Tami M. Panhuis, Piotr Mieczkowski, and Karen L. Mohlke. Collaborators from outside UNC include Takao Nammo, Lorenzo Pasquali, , Antonio Secchi, Domenico Bosco, Thierry Berney, Eduard Montanya, and Jorge Ferrer. Co-senior author Dr. Ferrer conducts his research in the Department of Endocrinology, Hospital Clínic de Barcelona.

Tom Hughes | EurekAlert!
Further information:
http://www.unc.edu

More articles from Life Sciences:

nachricht Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery
20.01.2017 | GSI Helmholtzzentrum für Schwerionenforschung GmbH

nachricht Seeking structure with metagenome sequences
20.01.2017 | DOE/Joint Genome Institute

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Traffic jam in empty space

New success for Konstanz physicists in studying the quantum vacuum

An important step towards a completely new experimental access to quantum physics has been made at University of Konstanz. The team of scientists headed by...

Im Focus: How gut bacteria can make us ill

HZI researchers decipher infection mechanisms of Yersinia and immune responses of the host

Yersiniae cause severe intestinal infections. Studies using Yersinia pseudotuberculosis as a model organism aim to elucidate the infection mechanisms of these...

Im Focus: Interfacial Superconductivity: Magnetic and superconducting order revealed simultaneously

Researchers from the University of Hamburg in Germany, in collaboration with colleagues from the University of Aarhus in Denmark, have synthesized a new superconducting material by growing a few layers of an antiferromagnetic transition-metal chalcogenide on a bismuth-based topological insulator, both being non-superconducting materials.

While superconductivity and magnetism are generally believed to be mutually exclusive, surprisingly, in this new material, superconducting correlations...

Im Focus: Studying fundamental particles in materials

Laser-driving of semimetals allows creating novel quasiparticle states within condensed matter systems and switching between different states on ultrafast time scales

Studying properties of fundamental particles in condensed matter systems is a promising approach to quantum field theory. Quasiparticles offer the opportunity...

Im Focus: Designing Architecture with Solar Building Envelopes

Among the general public, solar thermal energy is currently associated with dark blue, rectangular collectors on building roofs. Technologies are needed for aesthetically high quality architecture which offer the architect more room for manoeuvre when it comes to low- and plus-energy buildings. With the “ArKol” project, researchers at Fraunhofer ISE together with partners are currently developing two façade collectors for solar thermal energy generation, which permit a high degree of design flexibility: a strip collector for opaque façade sections and a solar thermal blind for transparent sections. The current state of the two developments will be presented at the BAU 2017 trade fair.

As part of the “ArKol – development of architecturally highly integrated façade collectors with heat pipes” project, Fraunhofer ISE together with its partners...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Sustainable Water use in Agriculture in Eastern Europe and Central Asia

19.01.2017 | Event News

12V, 48V, high-voltage – trends in E/E automotive architecture

10.01.2017 | Event News

2nd Conference on Non-Textual Information on 10 and 11 May 2017 in Hannover

09.01.2017 | Event News

 
Latest News

Helmholtz International Fellow Award for Sarah Amalia Teichmann

20.01.2017 | Awards Funding

An innovative high-performance material: biofibers made from green lacewing silk

20.01.2017 | Materials Sciences

Ion treatments for cardiac arrhythmia — Non-invasive alternative to catheter-based surgery

20.01.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>