Genome blueprint of mice helps understanding of human genetics

International researchers have mapped over 55 million genetic variations in the mouse genome in the hopes of better understanding human disease.

The genomes of 17 strains of mice were analysed and variations in their DNA, called SNPs, were catalogued. Many of the SNPs identified were associated with diseases, such as heart disease and diabetes. Such information may expand our knowledge of the influence of genetic differences on human disease.

'This resource, made possible through huge recent advances in sequencing technology, is transforming our understanding of how DNA sequence variation relates to gene function, and ultimately its association with biology and human health', said Professor Ian Jackson of the Medical Research Council's Human Genetics Unit, who was involved in the project.

Research into human disease often uses the mouse as a model organism for investigation. Numerous mouse strains are studied for this purpose, with each strain presenting slight differences in their genomes that often reflect different biological characteristics. These biological differences can also be representative of those seen in humans. Consequently, associating specific SNPs to different biological states in mice may help understand genetic contributions to human disease.

'We are living in an era where we have thousands of human genomes at our fingertips. The mouse, and the genome sequences we have generated, will play a critical role in understanding how genetic variation contributes to disease and will lead us towards new therapies', said Dr David Adams, of the Wellcome Trust Sanger Institute, Cambridge, who co-led the project alongside Professor Jonathan Flint of the Wellcome Trust Centre for Human Genetics at the University of Oxford.

The new, publicly available resource will allow researchers to study the mouse genome more quickly and with greater ease. They will be able to identify SNPs that affect disease, reducing the need for breeding studies that are often time consuming and require large numbers of mice. Ultimately it is believed this catalogue of data will speed up efforts to understand the functions of human genes in normal and diseased states.

'In some cases it has taken 40 years - an entire working life - to pin down a gene in a mouse model that is associated with a human disease, looking for the cause. Now with our catalogue of variants the analysis of these mice is breathtakingly fast', said Dr Thomas Keane, of the Wellcome Trust Sanger Institute, Cambridge, who was also involved in the study. 'We know where all the variants are, so the questions today are 'What do they do, and can we explain the phenotypic [biological] differences between different strains of mice?'.

Future efforts to expand the project will involve analysing the genomes of mice models for specific diseases, such as cancer, to target efforts in understanding this pathology in humans.

This project was published in two separate papers in the journal Nature.