DNA mismatch repair in trinucleotide repeat instability

Jinzhen Guo, Luping Chen, Guo Min Li

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Trinucleotide repeat expansions cause over 30 severe neuromuscular and neurodegenerative disorders, including Huntington’s disease, myotonic dystrophy type 1, and fragile X syndrome. Although previous studies have substantially advanced the understanding of the disease biology, many key features remain unknown. DNA mismatch repair (MMR) plays a critical role in genome maintenance by removing DNA mismatches generated during DNA replication. However, MMR components, particularly mismatch recognition protein MutSβ and its interacting factors MutLα and MutLγ, have been implicated in trinucleotide repeat instability. In this review, we will discuss the roles of these key MMR proteins in promoting trinucleotide repeat instability.

Original languageEnglish (US)
Pages (from-to)1087-1092
Number of pages6
JournalScience China Life Sciences
Issue number10
StatePublished - Oct 1 2017


  • DNA mismatch repair
  • MutSβ
  • neurodegenerative diseases
  • trinucleotide repeat instability

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Environmental Science(all)
  • Agricultural and Biological Sciences(all)


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