Repeat instability in the fragile x-related disorders: Lessons from a mouse model

Xiaonan Zhao, Inbal Gazy, Bruce Hayward, Elizabeth Pintado, Ye Hyun Hwang, Flora Tassone, Karen Usdin

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


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.

Original languageEnglish (US)
Article number52
JournalBrain Sciences
Issue number3
StatePublished - Mar 1 2019
Externally publishedYes


  • 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)

ASJC Scopus subject areas

  • Neuroscience(all)


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