The promise of the genome analysis in humans is the ability to connect genes
and gene variation with genetic disorders and the predisposition to common human
diseases. The completion of the sequence of the human genome provided for the
first time the opportunity to recognize genes and the existing variation in
the DNA sequences among humans.
However, the recognition of genes and other important DNA regions in the genome requires another indispensable tool : comparison with genomes of other species. This is a powerful tool to learn what the evolutionary process considered an important DNA segment to remain conserved during the millions of years of evolutionary time.
The species that is most suitable for such comparative genome analysis is the laboratory mouse. An international collaborative project for the sequencing and the analysis of mouse genome has just finished the first draft and initial comparative analysis of this genome. The sequencing was performed in the United States and United Kingdom; the analysis of the sequence was done by scientists in the United States, United Kingdom, Germany, Spain, Switzerland, Canada and Japan.
Professor S.E. Antonarakis, and Drs. E. Dermitzakis, A. Reymond and C. Ucla from the Division of Medical Genetics of the University of Geneva Medical School and University Hospitals (HUG) have participated in the analysis of this enormous amount of data. In collaboration with computational biologists from Barcelona, Spain (Dr. R. Guigo) and St Louis, Minnesota, USA (Dr. M. Brent), we (scientists) predicted and experimentally verified yet-unidentified genes that are conserved between human and mouse. The investigators were pleased to find out that their predictions were highly accurate. A total of 1100 novel genes were discovered by this approach. This is a very encouraging result because it proves in the most direct way the usefulness of the comparison of mammalian genomes for the identification of important DNA sequences.
The description and the results of this project is published in the prestigious scientific journal Nature (www.nature.com) on December 5, 2002. All data described in the article are freely available through the internet.
The deciphering of the mouse genome is of paramount importance for human biology and medicine. First, comparison of the human to mouse genomes reveals unknown genes, and DNA regions with important functional significance. Second, as the mouse is the most useful model for human disorders, the reading of its genome will advance the knowledge of their causes. This formidable tool will facilitate the identification of genes that predispose to common human disorders such as atherosclerosis, obesity, diabetes, heart defects and hereditary cancers. In addition, scientists could generate new and better models for human disorders allowing new therapies to be tested.
The laboratory of Prof. Antonarakis at the University of Geneva Medical School was supported by funds from the Swiss National Science Foundation, the National Center for Competence in Research "Frontiers in Genetics", the Swiss Cancer League and the Childcare and J.Lejeune Foundations.