The quest of tracking human mutation in the 1000 genomes project: Human mutation repertoire revealed
University of Montreal contributes to international study
2010-10-29
(Press-News.org) Montreal, October 27, 2010 – Mutations in DNA are a normal part of life. Sometimes these variations give rise to unique and beneficial traits including the creation of a new species, other times they cause devastating diseases. We are now another step closer to capturing most of the DNA mutations in humans thanks to an international study cataloging all forms of DNA variation from five populations from Europe, East Asia, South Asia, West Africa and the Americas, in the "1000 Genomes Project". Findings from the first phase of this study have been published in this week's issue of Nature and will contribute to a much more comprehensive understanding of the role of inherited DNA variation in human history, evolution and disease.
"The aim of the pilot project was to develop and compare different strategies for precise and efficient genetic analysis," says Dr. Philip Awadalla, professor in the Faculty of Medicine at the Université de Montréal. "In three pilot projects, the complete genomes of more than 800 individuals were screened. The project accurately described the location and frequency of approximately 15 million mutations. This study changes our understanding of the standing level of mutation in the human genome and how frequently new mutations occur. We found that only about 50 of these arise from one generation to the next. This is the first time that an estimate of the human mutation rate has been calculated directly from multiple families. This novel finding is also the result of genetic and computational tools developed at the University of Montreal.
Data already in use
Data from the pilot project are already informing medical genetic studies. This DNA variation is now being used to design a new generation of genetic studies. The methods developed in this study can be used for future research to accurately capture potential disease causing mutations in cancers. Project data have used this information to learn how genes are turned on and off. This regulation is critical to all components of human biology and disease.
1000 Genome project
This first project was completed over three years and brought together the work of over a hundred of the best human geneticists in the world. The Canadian team of this international consortium of scientists is lead by principle investigator Dr. Philip Awadalla, and based at the University of Montreal.The next step in the research is to create a public database for DNA variation that characterizes 95 percent of all mutations. This endeavour began in 2008 and is presently analyzing DNA from multiple population groups.
"The results will give us a much deeper understanding of the extent and function of human genetic variation, enabling new insights into the landscapes of functional variation, genetic association and natural selection in humans," says Awadalla.
INFORMATION:
Partners in research
Funding for this project includes grants from the Wellcome Trust, the Medical Research Council, the
British Heart Foundation, The Leverhulme Trust, the Louis-Jeantet Foundation, the Swiss National Science Foundation, the National Natural Science Foundation of China, the Municipal Government of Shenzhen, the Yantian, the District local government of Shenzhen, the Danish Natural Science Research Council, the Emmy Noether Fellowship of the German Research Foundation, the EU 6th framework, the EU 7th framework, the Max Planck Society, Genome Quebec and the Ministry of Development, Exploration and Innovation, the Intramural Research Program of the NIH, the National Library of Medicine, the Coriell Institute, the Translational Genomics Research Institute, the Al Williams Professorship, the BWF and Packard Foundation, the Pew Charitable Trusts, and the NSF Minority Postdoctoral Fellowship.
On the Web:
About the Nature publication: www.nature.com
About the Université de Montréal: www.umontreal.ca/english
Media contact:
Julie Gazaille
Press attaché
University of Montreal
Telephone: 514 343 6796
Email: j.cordeau-gazaille@umontreal.ca
Twitter: http://twitter.com/uMontreal_news
END
ELSE PRESS RELEASES FROM THIS DATE:
2010-10-29
PHILADELPHIA — For the first time, researchers have found a link between long telomeres and an increased risk for colorectal cancer, according to research presented at the American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held here Oct. 27-30, 2010.
Telomeres are small strips of DNA that cover the ends of chromosomes — they are similar to the plastic coverings on shoelace tips. They prevent chromosome tips from fraying during cell division. If the telomeres shorten, then cells age. Shortened telomeres have been associated ...
2010-10-29
PHILADELPHIA — Researchers are one step closer to providing a new therapy for colon cancer, after findings revealed that a small molecule focal adhesion kinase (FAK) inhibitor known as Y15 effectively blocked cell viability, promoted detachment and apoptosis, and decreased tumor growth in mice. These findings were presented at the American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held Oct. 27-30, 2010.
"We believe that these types of novel small molecule inhibitors may be the future direction for cancer therapy," said ...
2010-10-29
PHILADELPHIA — A variant site linked to poor outcome in advanced colorectal cancer has now been found to predict improved prognosis in early stages of cancer, according to research presented at the American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held Oct. 27-30, 2010.
Researchers said they don't know why this variant site, a microRNA binding site that should allow appropriate regulation of the KRAS gene, exhibited a Dr. Jekyll and Mr. Hyde duality. Further study could show that patients with this miRNA variant might ...
2010-10-29
PHILADELPHIA — Researchers have identified two small-molecule inhibitors that effectively targeted the focal adhesion kinase (FAK), an enzyme present in certain cancers that helps tumors thrive and survive.
If the drugs are developed into oral therapeutic agents in the future, they could open up the potential for more effective and less toxic cancer therapies, according to research presented at The American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held Oct. 27-30, 2010.
"It is well known that FAK is overexpressed ...
2010-10-29
PHILADELPHIA — University of Pittsburgh researchers have devised a three-dimensional system in laboratory culture that mimics the growth patterns of colon cancer stem cells in patients. Their findings were presented at the American Association for Cancer Research special conference on Colorectal Cancer: Biology to Therapy, held Oct. 27-30, 2010.
The assay, which uses green fluorescent "reporter" proteins to watch the process of stem cell differentiation, is designed to understand how these cancer stem cells behave, and to identify and test therapies that could halt production ...
2010-10-29
A highly skillful and delicate method of sharpening and retouching stone artifacts by prehistoric people appears to have been developed at least 75,000 years ago, more than 50,000 years earlier than previously thought, according to a new study led by the University of Colorado at Boulder.
The new findings show that the technique, known as pressure flaking, took place at Blombos Cave in South Africa during the Middle Stone Age by anatomically modern humans and involved the heating of silcrete -- quartz grains cemented by silica -- used to make tools. Pressure flaking ...
2010-10-29
Nearly one in four stars like the sun could have Earth-size planets, according to a University of California, Berkeley, study of nearby solar-mass stars.
UC Berkeley astronomers Andrew Howard and Geoffrey Marcy chose 166 G and K stars within 80 light years of Earth and observed them with the powerful Keck telescope for five years in order to determine the number, mass and orbital distance of any of the stars' planets. The sun is the best known of the G stars, which are yellow, while K-type dwarfs are slightly smaller, orange-red stars.
The researchers found increasing ...
2010-10-29
PROVIDENCE, R.I. [Brown University] — Mad Cow disease and its human variant Creutzfeldt—Jakob disease, which are incurable and fatal, have been on a welcome hiatus from the news for years, but because mammals remain as vulnerable as ever to infectious diseases caused by enigmatic proteins called prions, scientists have taken no respite of their own. In the Oct. 29 edition of the journal Science, researchers at Brown University report a key new insight into how prion proteins — the infectious agents — become transmissible: In yeast at least, it is the size of prion complexes, ...
2010-10-29
Elderly patients with kidney failure get kidney transplants more often than they did a decade ago, according to a study appearing in an upcoming issue of the Clinical Journal of the American Society of Nephrology (CJASN). The results suggest that the chances of receiving a kidney transplant are better than ever for an older patient who needs one.
Kidney failure afflicts nearly half a million individuals in the United States, and 48% of sufferers are 60 years of age or older. Kidney disease patients who obtain a transplant live longer than those that remain on dialysis. ...
2010-10-29
CAMBRIDGE, Mass. -- In a study of mice with lymphoma, MIT biologists have discovered that a small number of cancer cells escape chemotherapy by hiding out in the thymus, an organ where immune cells mature. Within the thymus, the cancer cells are bathed in growth factors that protect them from the drugs' effects. Those cells are likely the source of relapsed tumors, said Michael Hemann, MIT assistant professor of biology, who led the study.
The researchers plan to soon begin tests, in mice, of drugs that interfere with one of those protective factors. Those drugs were ...
LAST 30 PRESS RELEASES:
[Press-News.org] The quest of tracking human mutation in the 1000 genomes project: Human mutation repertoire revealed
University of Montreal contributes to international study
