Researchers develop whole genome sequencing approach for mutation discovery

May 5, 2009

The Stowers Institute's Hawley Lab and Molecular Biology Facility have developed a "whole-genome sequencing approach" to mapping mutations in fruit flies. The novel methodology promises to reduce the time and effort required to identify mutations of biological interest. The work was published in the May issue of the journal Genetics.

The team mapped a fruit-fly mutation caused by the compound ethyl methanesulfonate (EMS) by determining the DNA sequence of the mutant fly's genome. The results provide insight into the mechanism of EMS mutageneseis and into gene conversion events involving balancer chromosomes — tools used to prevent between homologous chromosomes during meiosis.

Model organisms like are used in research for studying both normal biological processes and human disease. Fruit fly genes can be inserted, deleted or modified, and large numbers of flies can be randomly mutated to generate interesting phenotypes relevant to human disease. Finding the mutated gene responsible for an interesting phenotype is labor intensive and time consuming, and many that cause medically relevant phenotypes are not discovered. The new approach lowers the barrier to finding mutations and greatly accelerates the discovery of genes important for human health.

"This approach will change the way fruit fly genetics is done," said Scott Hawley, Ph.D., Investigator and co-equal senior author on the publication. "Traditional mapping approaches to identify mutations are inefficient procedures. Our whole-genome sequencing approach is fast and cost effective. Among other potential uses, it also carries the potential to pinpoint inheritable molecular characteristics that are controlled by several genes at once."

"The traditional mapping method could take months to years depending on the complexity of the phenotype," said Karen Staehling-Hampton, Ph.D., Managing Director of Molecular Biology and co-equal senior author on the paper. "This advance will allow us to map mutations of interest in just a few weeks. The next-generation sequencing technology used for this project is extremely exciting. It will allow researchers to sequence genomes for a few thousand dollars, a cost unheard of just a few years ago. It will also enable them to take their science in new directions and answer new questions that were not possible with traditional sequencing technology."

Source: Stowers Institute for Medical Research

Explore further: Fly and worm models to teach researchers about human biology and medicine

Related Stories

Fly and worm models to teach researchers about human biology and medicine

May 14, 2007
In an effort to understand every part of the genome needed for organisms to develop and thrive, the National Human Genome Research Institute, part of the National Institutes of Health, today announced the first grants in ...

Researchers identify gene linked to vertebral defects in patient populations

May 15, 2008
Stowers Institute researchers Karen Staehling-Hampton, Ph.D., Managing Director of Molecular Biology, and Olivier Pourquié, Ph.D., Investigator, collaborated with colleagues from around the world to show that genes known ...

'Drunk' fruit flies could shed light on genetic basis of human alcohol abuse

October 20, 2006
Fruit flies get ‘drunk’, just like humans, when exposed to large amounts of alcohol and may in future help to explain why some people are genetically predisposed to alcohol abuse.

Human aging gene found in flies

May 12, 2008
Scientists funded by the Biotechnology and Biological Sciences Research Council (BBSRC) have found a fast and effective way to investigate important aspects of human ageing. Working at the University of Oxford and The Open ...

Fruit flies soar as lab model, drug screen for the deadliest of human brain cancers

February 13, 2009
Fruit flies and humans share most of their genes, including 70 percent of all known human disease genes. Taking advantage of this remarkable evolutionary conservation, researchers at the Salk Institute for Biological Studies ...

Fruit fly gene from 'out of nowhere' is discovered

July 23, 2007
Scientists thought that most new genes were formed from existing genes, but Cornell researchers have discovered a gene in some fruit flies that appears to be unrelated to other genes in any known genome.

Recommended for you

Critical role of DHA on foetal brain development revealed

August 17, 2018
Duke-NUS researchers have found evidence that a natural form of Docosahexaenoic Acid (DHA) made by the liver called Lyso-Phosphatidyl-Choline (LPC-DHA), is critical for normal foetal and infant brain development, and that ...

New algorithm could improve diagnosis of rare diseases

August 17, 2018
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.

Gene silencing critical for normal breast development

August 17, 2018
Researchers have discovered that normal breast development relies on a genetic 'brake', a protein complex that keeps swathes of genes silenced.

Officials remove special rules for gene therapy experiments

August 16, 2018
U.S. health officials are eliminating special regulations for gene therapy experiments, saying that what was once exotic science is quickly becoming an established form of medical care with no extraordinary risks.

Genetic link discovered between circadian rhythms and mood disorders

August 15, 2018
Circadian rhythms are regular 24-hour variations in behaviour and activity that control many aspects of our lives, from hormone levels to sleeping and eating habits.

Ovarian cancer genetics unravelled

August 14, 2018
Patterns of genetic mutation in ovarian cancer are helping make sense of the disease, and could be used to personalise treatment in future.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.