Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model
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 a...
| Autores: | , , , , , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2019 |
| País: | España |
| Institución: | Universidad de Sevilla (US) |
| Repositorio: | idUS. Depósito de Investigación de la Universidad de Sevilla |
| OAI Identifier: | oai:idus.us.es:11441/87957 |
| Acceso en línea: | https://hdl.handle.net/11441/87957 https://doi.org/10.3390/brainsci9030052 |
| Access Level: | acceso abierto |
| Palabra clave: | Base excision repair (BER) CGG Repeat Expansion Disease Contraction DNA instability Double-strand break repair (DSBR) Expansion Mismatch repair (MMR) Mosaicism Non-homologous end-joining (NHEJ) Transcription coupled repair (TCR) |
| Sumario: | 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. |
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