Approved research

The role of ZNF516 in embryonic development and its impact on adult life.

Lay summary

Approximately one-third of all mammalian genes are essential for life, and the disordered function of many of these genes gives rise to disease. Although important, many genes are still uncharacterised and their role in the development, health, and disease are unknown. One example of such a gene is ZNF516. In our study that aimed at the characterisation of ZNF516 we discovered that during embryonic development mice that lacked the gene developed congenital heart defects, showed abnormalities in their cardiovascular system, developed abnormal thymus, thyroid, and ureter (the duct by which urine passes from the kidney to the bladder). Moreover, adult mice that lacked the gene were smaller than their siblings that did have the gene. The aim of our project is to explore whether having different variants on ZNF516 gene has any effect on human health and disease. We will make use of the DNA data available and stratify patients depending on the ZNF516 variant they have. We will then look at whether there is a higher incidence of an underlying condition or predisposition to diseases in any of the groups. This study will help us understand whether patients with different variants of the gene are more likely to suffer from different conditions or diseases during their lifetime.