Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists to assess effects of multiple copies of genes on disease risk

01.02.2007
Scientists at Washington University School of Medicine in St. Louis and the biotech firm Nimblegen Systems Inc. have successfully tested a technique for identifying newly recognized DNA variations that may influence disease risk.

Rather than focus on errors and alterations in DNA sequence, the new technique highlights variations in the number of copies of a particular gene. Additional copies of a gene may lead to overproduction of that gene's protein, and this may affect both easily identifiable traits such as body size or more difficult-to-discern traits such as cancer risk.

Scientists report in Public Library of Science Genetics that they refined an analysis technique to assess variations in gene copy number in 20 different mouse strains. According to the paper's lead author, this budding area of study is likely to have wide-ranging implications for scientists' understanding of how DNA variations contribute to human health and illness.

"Right now, our results and other early assessments of human and other mammalian genomes are suggesting that about 10 percent of the genome features copy number variations," says Timothy Graubert, M.D., assistant professor of pathology and immunology and of medicine. "That's a huge number. As a percentage of the genome, variations in gene copy number could explain more person-to-person variability than the single-letter changes in the genetic code known as SNPs [single nucleotide polymorphisms]."

... more about:
»DNA »Genome »Graubert »assess

Graubert's lab uses human samples and mouse models to study leukemia, cancer that occurs in the bone marrow cells that make blood cells. Using Nimblegen's technique for assessing gene copy number, they identified approximately 80 variations in the number of gene copies in each of the mouse genomes. Graubert will incorporate the results into his lab's search for genetic factors that protect against or increase susceptibility to leukemia.

Much of the analytic work was led by graduate student Patrick Cahan and postdoctoral fellow Deepa Edwin, Ph.D. The 20 mouse strains were previously selected by the Mouse Phenome Project, which is assembling a database of how changes in mouse DNA affect mouse characteristics. The project is headquartered at Jackson Laboratory in Bar Harbor, Maine.

For their analysis, researchers compared the genome of each of the 20 mouse strains against that of the prototypical research mouse strain, C57BL/6J.

"That's the 'plain vanilla' mouse genome," Graubert explains. "Just like the reference human genome sequence that is used to identify genetic differences between human individuals, the C57BL/6J mouse genome is the one we understand best and the standard against which other mouse genomes can be compared."

Nimblegen's technique for rapid analysis is known as oligonucleotide array comparative genomic hybridization.

"The copy number variants we describe in this paper are numerous and fairly large—they vary in length between two thousand and two million DNA base pairs," Graubert says. "Datasets this large require a lot of analysis to be sure that what you're seeing is real, so we really worked hard to prove that these gene copy number variations are real and validated many of them using other technologies."

Graubert is working with Nimblegen to conduct a follow-up analysis of gene copy number variation in the mouse strains using an even more sensitive version of the technique. They are also testing how changes in gene copy number are reflected in RNA, the order slips for assembly of a gene's protein that are copied from DNA.

"The prediction is that if you have a higher gene copy number count, you'll see more RNA from that gene," he says. "But we need to test that on a genome-wide scale."

Michael C. Purdy | EurekAlert!
Further information:
http://www.wustl.edu

Further reports about: DNA Genome Graubert assess

More articles from Life Sciences:

nachricht Flavins keep a handy helper in their pocket
25.04.2018 | University of Freiburg

nachricht Complete skin regeneration system of fish unraveled
24.04.2018 | Tokyo Institute of Technology

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: BAM@Hannover Messe: innovative 3D printing method for space flight

At the Hannover Messe 2018, the Bundesanstalt für Materialforschung und-prüfung (BAM) will show how, in the future, astronauts could produce their own tools or spare parts in zero gravity using 3D printing. This will reduce, weight and transport costs for space missions. Visitors can experience the innovative additive manufacturing process live at the fair.

Powder-based additive manufacturing in zero gravity is the name of the project in which a component is produced by applying metallic powder layers and then...

Im Focus: Molecules Brilliantly Illuminated

Physicists at the Laboratory for Attosecond Physics, which is jointly run by Ludwig-Maximilians-Universität and the Max Planck Institute of Quantum Optics, have developed a high-power laser system that generates ultrashort pulses of light covering a large share of the mid-infrared spectrum. The researchers envisage a wide range of applications for the technology – in the early diagnosis of cancer, for instance.

Molecules are the building blocks of life. Like all other organisms, we are made of them. They control our biorhythm, and they can also reflect our state of...

Im Focus: Spider silk key to new bone-fixing composite

University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.

Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.

Im Focus: Writing and deleting magnets with lasers

Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.

Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...

Im Focus: Gamma-ray flashes from plasma filaments

Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.

The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

IWOLIA: A conference bringing together German Industrie 4.0 and French Industrie du Futur

09.04.2018 | Event News

 
Latest News

Getting electrons to move in a semiconductor

25.04.2018 | Physics and Astronomy

Reconstructing what makes us tick

25.04.2018 | Physics and Astronomy

Cheap 3-D printer can produce self-folding materials

25.04.2018 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>