Human Molecular Genetics, 2001, Vol. 10, No. 20 2187-2194
© 2001 Oxford University Press
Dynamic mutations: a decade of unstable expanded repeats in human genetic disease
Department of Molecular Biosciences, The University of Adelaide, Adelaide, SA 5000, Australia and Centre for Medical Genetics, Women’s and Children’s Hospital, North Adelaide, SA 5006, Australia
The term ‘dynamic mutation’ was introduced to distinguish the unique properties of expanding, unstable DNA repeat sequences from other forms of mutation. The past decade has seen dynamic mutations uncovered as the molecular basis for a growing number of human genetic diseases and for all of the characterized ‘rare’ chromosomal fragile sites. The common properties of the repeats in different diseases and fragile sites have given insight into this unique form of DNA instability. While the dynamic mutation mechanism explains some unusual genetic characteristics, unexpected findings have raised new questions and challenged some assumptions about the pathways that lead from mutation to disease. This review will address the current understanding of the molecular mechanisms involved in the dynamic mutation process and elaborate on the pathogenic pathways that lead from expanded repeats to the diseases with which they are associated.
+ To whom correspondence should be addressed at: Department of Molecular Biosciences, The University of Adelaide, Adelaide, SA 5000, Australia. Tel: +618 8303 7541; Fax: +618 8303 4362; Email: robert.richards@adelaide.edu.au
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