The Startling Role of Mismatch Repair in Trinucleotide Repeat Expansions.
Animals
DNA
/ metabolism
DNA Mismatch Repair
DNA Repair
Genotype
Humans
Meiosis
Mice
Mice, Transgenic
Microsatellite Repeats
Mitosis
MutL Proteins
/ genetics
MutS Proteins
/ genetics
Recombination, Genetic
Saccharomyces cerevisiae
Schizosaccharomyces
Trinucleotide Repeat Expansion
Trinucleotide Repeats
MutL
MutS
microsatellites
mismatch repair
trinucleotide repeats
Journal
Cells
ISSN: 2073-4409
Titre abrégé: Cells
Pays: Switzerland
ID NLM: 101600052
Informations de publication
Date de publication:
26 04 2021
26 04 2021
Historique:
received:
30
03
2021
revised:
20
04
2021
accepted:
21
04
2021
entrez:
30
4
2021
pubmed:
1
5
2021
medline:
16
11
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 33925919
pii: cells10051019
doi: 10.3390/cells10051019
pmc: PMC8145212
pii:
doi:
Substances chimiques
DNA
9007-49-2
MutL Proteins
EC 3.6.1.3
MutS Proteins
EC 3.6.1.3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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