Ontology highlight
ABSTRACT:
SUBMITTER: Kantartzis A
PROVIDER: S-EPMC3459598 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Kantartzis Athena A Williams Gregory M GM Balakrishnan Lata L Roberts Rick L RL Surtees Jennifer A JA Bambara Robert A RA
Cell reports 20120802 2
Trinucleotide repeat (TNR) expansions are the underlying cause of more than 40 neurodegenerative and neuromuscular diseases, including myotonic dystrophy and Huntington's disease. Although genetic evidence points to errors in DNA replication and/or repair as the cause of these diseases, clear molecular mechanisms have not been described. Here, we focused on the role of the mismatch repair complex Msh2-Msh3 in promoting TNR expansions. We demonstrate that Msh2-Msh3 promotes CTG and CAG repeat exp ...[more]