Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders
AbstractThe 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
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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.
Zhao X-N, Usdin K. Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders. Genes. 2016; 7(9):70.Chicago/Turabian Style
Zhao, Xiao-Nan; Usdin, Karen. 2016. "Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders." Genes 7, no. 9: 70.
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