Understanding the Function of NMD Genes


There are over 20,000 genes in the human genome. Whilst the function of many have been worked out in some detail, many others remain of unknown purpose. We use a variety of methods to try to understand the basic function of each gene which underlies a neuromuscular condition, with the view that understanding what the gene does normally will assist us in understanding the disease caused by its absence.

One of the primary model systems we use is cell culture. We have a repository of patient-derived cells which we can use to study how loss of their gene affects muscle cells in culture. We also use various other cell lines such as the mouse myoblast line C2C12 to tack the location of various proteins involved in muscle cell function.

However, many of the important properties of gene products can only be visualized in intact muscle. We therefore look at the effects of restricting the expression of our genes of interest in zebrafish using antisense morpholinos to knock down gene expression.


Lab Gene Function