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Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model

1
Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
2
Department of Medical Biochemistry and Molecular Biology, School of Medicine, University Hospital Virgen Macarena, University of Seville, 41009 Seville, Spain
3
Department of Biochemistry and Molecular Medicine and MIND Institute, UC Davis Medical Center, Sacramento, CA 95817, USA
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work and thus should be considered co-first authors.
Brain Sci. 2019, 9(3), 52; https://doi.org/10.3390/brainsci9030052
Received: 12 January 2019 / Revised: 21 February 2019 / Accepted: 27 February 2019 / Published: 1 March 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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Abstract

The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for understanding many aspects of disease pathology in these disorders. There is also reason to think that such models may be useful for understanding the molecular basis of the unusual mutation responsible for these disorders. This review will discuss what has been learnt to date about mechanisms of repeat instability from a knock-in FXD mouse model and what the implications of these findings may be for humans carrying expansion-prone FMR1 alleles. View Full-Text
Keywords: CGG Repeat Expansion Disease; DNA instability; expansion; contraction; mismatch repair (MMR); base excision repair (BER); transcription coupled repair (TCR); double-strand break repair (DSBR); Non-homologous end-joining (NHEJ); mosaicism CGG Repeat Expansion Disease; DNA instability; expansion; contraction; mismatch repair (MMR); base excision repair (BER); transcription coupled repair (TCR); double-strand break repair (DSBR); Non-homologous end-joining (NHEJ); mosaicism
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Zhao, X.; Gazy, I.; Hayward, B.; Pintado, E.; Hwang, Y.H.; Tassone, F.; Usdin, K. Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model. Brain Sci. 2019, 9, 52.

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