Dynamic mutations on the move in Banff

Abstract

The mechanisms involved in microsatellite repeat instability and the consequent pathways that lead to disease have fascinated investigators from a wide range of disciplines for over a decade. This fascination was sparked by the discovery of dynamic mutations as the cause of a number of important and enigmatic human genetic diseases, including fragile X syndrome, myotonic dystrophy and Huntington disease. A primary focus of current research that was discussed at the conference is the molecular basis of microsatellite repeat instability. Both the composition of the repeat sequence and the length of the repeat are primary determinants of the likelihood that a repeat will expand.