University of Montreal contributes to '1000 Genomes Project'

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 Universit- de Montr-al. "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 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.

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.