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Genes 2016, 7(9), 70; doi:10.3390/genes7090070

Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, Building 8, Room 2A19, National Institutes of Health, 8 Center Drive MSC 0830, Bethesda, MD 20892-0830, USA
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Author to whom correspondence should be addressed.
Academic Editor: Mark Hirst
Received: 9 August 2016 / Revised: 30 August 2016 / Accepted: 13 September 2016 / Published: 21 September 2016
(This article belongs to the Special Issue Fragile X Syndrome)
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Abstract

The Fragile X-related disorders (FXDs) are a group of clinical conditions resulting from the expansion of a CGG/CCG-repeat tract in exon 1 of the Fragile X mental retardation 1 (FMR1) gene. While expansions of the repeat tract predominate, contractions are also seen with the net result being that individuals can show extensive repeat length heterogeneity in different tissues. The mechanisms responsible for expansion and contraction are still not well understood. This review will discuss what is known about these processes and current evidence that supports a model in which expansion arises from the interaction of components of the base excision repair, mismatch repair and transcription coupled repair pathways. View Full-Text
Keywords: Fragile X syndrome; Fragile X-related disorders; repeat expansion; base excision repair; mismatch repair; transcription coupled repair Fragile X syndrome; Fragile X-related disorders; repeat expansion; base excision repair; mismatch repair; transcription coupled repair
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Zhao, X.-N.; Usdin, K. Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders. Genes 2016, 7, 70.

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