What is it about?
Over fifty hereditary diseases are caused by expansions of simple DNA repeats in the human genome. These events occur in both dividing and non-dividing cells. This paper shows that induction of single-stranded DNA breaks (nicks) drives massive expansions of DNA repeats. Furthermore, DNA nicks can convert normal-size repeats into the disease-size ones. Altogether it implies that DNA nicks could be a common denominator for repeat expansions leading to human diseases.
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Why is it important?
Understanding how DNA nicks drive repeat expansions can in the long run, lead to new therapeutic approaches for treatment of repeat expansion diseases.
Perspectives
The first striking observation is that DNA nicks increase the likelihood of repeat expansions for more than two orders of magnitude and even drive expansions of normal0-size repeats. Second and contrary to what we believed when starting this study, nick-mediated expansions occur in the course of homologous recombination. The latter observation opens up new avenues in studying repeat expansion disease as well as a new therapeutic opportunities.
Professor Sergei M. Mirkin
Tufts University
Read the Original
This page is a summary of: Recurrent DNA nicks drive massive expansions of (GAA)
n
repeats, Proceedings of the National Academy of Sciences, November 2024, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2413298121.
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