Special Issue "Fragile X Syndrome"
Deadline for manuscript submissions: closed (30 June 2016).
In the 25 years since the FMR1 CGG trinucleotide repeat was first identified, it has continued to provide a challenge to researchers. After several decades, reliable molecular diagnostics are only now finding more common use and the identification and implications of interspersed AGG triplets for expansion risk being determined. Whilst insights into trinucleotide expansion have come transgenic animal models and DNA repair studies with other expansion-prone trinucleotides, we still have much to learn about expansion in different cell types and developmental stages and the extent to which these occur during brain development, how it influences fragile X phenotypic features and might impact upon the success of future pharmacotherapies.
For the premutation, the phenotypic consequences of expression of premutation-length FMR1 mRNAs in terms of FXTAS and premature ovarian failure are slowly being elucidated. For the full mutation, the elucidation of a role of the FMR1 gene’s own mRNA in the silencing of its promoter has finally proved a functional link between expansion and local chromatin changes. An understanding of the consequences of the loss of FMRP is starting to emerge from studies of its role in miRNA based translational regulation of mRNAs important for synapse function, particularly those involved in other neurodevelopmental disorders, such as ASD.
Dr. Mark Hirst
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- fragile X
- DNA repair
- CGG structure