Researchers develop whole genome sequencing approach for mutation discovery

May 05, 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: Project pinpoints 12 new genetic causes of developmental disorders

add to favorites email to friend print save as pdf

Related Stories

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 fly gene from 'out of nowhere' is discovered

Jul 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

Obese British man in court fight for surgery

Jul 11, 2011

A British man weighing 22 stone (139 kilograms, 306 pounds) launched a court appeal Monday against a decision to refuse him state-funded obesity surgery because he is not fat enough.

2008 crisis spurred rise in suicides in Europe

Jul 08, 2011

The financial crisis that began to hit Europe in mid-2008 reversed a steady, years-long fall in suicides among people of working age, according to a letter published on Friday by The Lancet.

New food labels dished up to keep Europe healthy

Jul 06, 2011

A groundbreaking deal on compulsory new food labels Wednesday is set to give Europeans clear information on the nutritional and energy content of products, as well as country of origin.

Overweight men have poorer sperm count

Jul 04, 2011

Overweight or obese men, like their female counterparts, have a lower chance of becoming a parent, according to a comparison of sperm quality presented at a European fertility meeting Monday.

User comments : 0

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.