BAR HARBOR — A new article in “Nature” from an international, multi-institution research team including The Jackson Laboratory describes the large-scale discovery of genes necessary for life and how this information will impact understanding of mammalian development and human disease.
The study reports the results of the first 1,751 genes characterized by the International Mouse Phenotyping Consortium, of which lab is a member, including the finding that nearly one-third are essential for life. This includes 410 lines that are fully lethal (in other words, a mouse embryo missing any one of these genes fails to survive), and an additional 198 for which fewer than half of the expected number of embryos survive.
The team showed that identification of essential genes in the mouse provides a window on human disease, including the discovery of a number of novel cases where human disease genes overlap with essential genes. In addition, in collaboration with the ExAC Consortium, they showed that human orthologs of these essential genes are significantly depleted for loss-of-function mutations, and that these genes are thus strong candidates for undiagnosed human genetic conditions.
“The work of the consortium will contribute significantly to our understanding of the genetic bases for human diseases, including spina bifida and cardiovascular defects, amongst many others,” said coauthor Lydia Teboul, head of molecular and cellular biology at MRC Harwell Institute, in the U.K.
The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, with a National Cancer Institute-designated Cancer Center, a facility in Sacramento, Calif., and a genomic medicine institute in Farmington, Conn. It employs 1,800 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.