The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions - Archive ouverte HAL Access content directly
Journal Articles Cells Year : 2021

The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions

(1)
1

Abstract

Trinucleotide repeats are a peculiar class of microsatellites whose expansions are responsible for approximately 30 human neurological or developmental disorders. The molecular mechanisms responsible for these expansions in humans are not totally understood, but experiments in model systems such as yeast, transgenic mice, and human cells have brought evidence that the mismatch repair machinery is involved in generating these expansions. The present review summarizes, in the first part, the role of mismatch repair in detecting and fixing the DNA strand slippage occurring during microsatellite replication. In the second part, key molecular differences between normal microsatellites and those that show a bias toward expansions are extensively presented. The effect of mismatch repair mutants on microsatellite expansions is detailed in model systems, and in vitro experiments on mismatched DNA substrates are described. Finally, a model presenting the possible roles of the mismatch repair machinery in microsatellite expansions is proposed.
Fichier principal
Vignette du fichier
2021-Richard (Cells-MMR).pdf (581.83 Ko) Télécharger le fichier
Origin : Publication funded by an institution

Dates and versions

pasteur-03657819 , version 1 (03-05-2022)

Licence

Attribution - CC BY 4.0

Identifiers

Cite

Guy-Franck Richard. The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions. Cells, 2021, 10 (5), pp.1019. ⟨10.3390/cells10051019⟩. ⟨pasteur-03657819⟩

Collections

PASTEUR CNRS
3 View
16 Download

Altmetric

Share

Gmail Facebook Twitter LinkedIn More