The paper has recently passed peer review and its findings have implications for appreciating the complexity of the development of embryos in humans.
The Wellcome Trust funded consortium, Deciphering the Mechanisms of Development Disorders (DMDD), produced the paper ‘Highly variable penetrance of abnormal phenotypes in embryonic-lethal knockout mice’ based on analysis of high resolution scans of 220 mouse embryos missing one of 42 different genes. The genes studied were ‘embryonic lethal’ – without any one of theme an embryo will not survive to birth.
Dr Tim Mohun led the study and the Francis Crick Institute, where he is based, helps support the consortium. Commenting on the findings, he said: “This is a striking result, coming as it does from such a large study in which embryos have been studied in unprecedented detail. It shows us that even with an apparently simple and well-defined mutation, the precise outcome can be both complex and variable. We have a lot to learn about the roles of these lethal genes in embryonic development to understand why this happens.”
Joint grant holder and Dunn School group leader Liz Robertson inputted into the design of the study and commented: “Given my long-held interest in studying embryo phenotypes, I was delighted to be included in the initial discussions to plan DMDD – an in-depth phenotype screen for a sub-set of 220 embryonic lethal lines. In particular, I was interested in the use of the High Resolution Episcopic Microscopy (HREM) imaging technique that Tim Mohun developed to underpin the research.”
Dorota Szumska from the Radcliffe Department of Medicine was also part of the consortium producing the findings.
Commenting on the significance of the research Dr Andrew Chisholm, Head of Cellular and Developmental Sciences at the Wellcome Trust said: “This study throws new light on what we thought was a fairly straightforward relationship between what’s coded in our genes and how we develop. Researchers need to appreciate this added layer of complexity, as well as endeavouring to unpick the intricate processes of genetic control at play.”