Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Stowers Researchers Develop Whole Genome Sequencing Approach for Mutation Discovery

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 — genetic tools used to prevent genetic recombination between homologous chromosomes during meiosis.

Model organisms like fruit flies 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 mutations 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.”

Additional contributing authors from the Stowers Institute include first author Justin Blumenstiel, Ph.D., formerly a Postdoctoral Research Fellow; Aaron Noll, Bioinformatics Programmer Analyst III; Jennifer Griffiths, Research Technician III; Anoja Perera, Laboratory Manager II; Kendra Walton, Research Technician III; and William Gilliland, Ph.D., Senior Research Associate.

Dr. Hawley is an American Cancer Society Research Professor. In addition to his research at the Stowers Institute, Dr. Hawley serves as a Professor of Molecular and Integrative Physiology at The University of Kansas Medical Center; an Adjunct Professor of Biological Sciences at the University of Missouri-Kansas City; and an Adjunct Professor of Biology at The University of Kansas. Learn more about his work at Learn more about the work of the Molecular Biology support facility at

About the Stowers Institute for Medical Research
Housed in a 600,000 square-foot state-of-the-art facility on a 10-acre campus in the heart of Kansas City, Missouri, the Stowers Institute for Medical Research conducts basic research on fundamental processes of cellular life. Through its commitment to collaborative research and the use of cutting-edge technology, the Institute seeks more effective means of preventing, treating, and curing disease. Jim and Virginia Stowers endowed the Institute with gifts totaling $2 billion. The endowment resides in a large cash reserve and in substantial ownership of American Century Investments, a privately held mutual fund company that represents exceptional value for the Institute’s future.

Marie Jennings | EurekAlert!
Further information:

More articles from Life Sciences:

nachricht Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München

nachricht Second research flight into zero gravity
21.10.2016 | Universität Zürich

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

Im Focus: New Products - Highlights of COMPAMED 2016

COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.

In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...

Im Focus: Ultra-thin ferroelectric material for next-generation electronics

'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.

Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...

All Focus news of the innovation-report >>>



Event News

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

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

Resolving the mystery of preeclampsia

21.10.2016 | Health and Medicine

Stanford researchers create new special-purpose computer that may someday save us billions

21.10.2016 | Information Technology

From ancient fossils to future cars

21.10.2016 | Materials Sciences

More VideoLinks >>>