Functional Characterisation of APLF; A Novel Human Protein Involved in the Cellular Response to Chromosomal DNA Strand Breaks

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The DNA in our cells is damaged more than 10,000 times per cell per day. If not repaired properly, this damage can result in genetic mutations and/or cell death. Consequently, cells have evolved a number of sophisticated biochemical mechanisms by which damaged DNA is rapidly detected and repaired. Recently, my group identified a completely novel human DNA repair protein that we denoted Aprataxin and PNK-Like Factor, or APLF. We have discovered that APLF is important for ensuring that breaks in one or both strands of DNA are repaired as fast as possible. Here, we plan to characterise in detail the importance of APLF for genetic integrity and genetic stability in living cells and in animals. In addition, we will identify the biochemical function of APLF and integrate this role into our model for how DNA strand breaks are repaired in human cells.