The vast majority of pathogenic (disease-causing) single bas…
The vast majority of pathogenic (disease-causing) single base gene mutations result from G:C >>> T:A transition mutations, where the C is changed to a T. Discuss the following related to this anomoly: Why is this particular transition mutation so prevalent in the human genome? As discussed in class, which DNA repair pathways would logically attempt to prevent this mutation, and why would the repair fail at a higher rate than most other mutations?. Why is this particular transition mutation very rarely observed near the promotor regions of actively transcribed genes? (hint: think DNA methylation)