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Article
| Open Access
Structure-forming CAG/CTG repeats interfere with gap repair to cause repeat expansions and chromosome breaks
Exposure of a structure-forming sequence within a single-stranded gap creates a fragile site, resulting in large deletions. Gap filling drives disease-causing CAG repeat expansions, with direction of instability determined by the identity of the sequence on the template strand of the gap.
- Erica J. Polleys
- , Isabella Del Priore
- & Catherine H. Freudenreich
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Article
| Open Access
The mechanism of replication stalling and recovery within repetitive DNA
DNA replication of repetitive sequences was recreated in a test tube using purified components. DNA alone was sufficient to induce stalling. Both stalling and recovery were dictated by the capacity of DNA to fold into unusual secondary structures.
- Corella S. Casas-Delucchi
- , Manuel Daza-Martin
- & Gideon Coster
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Article
| Open Access
Rad27 and Exo1 function in different excision pathways for mismatch repair in Saccharomyces cerevisiae
Defects in DNA mismatch repair (MMR) have been linked to inherited and sporadic cancers. Here the authors demonstrate that the DNA repair protein Rad27 (human FEN1) functions in one of three redundant mispair excision pathways, where its flap endonuclease activity catalyzes mispair excision.
- Felipe A. Calil
- , Bin-Zhong Li
- & Richard D. Kolodner
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Article
| Open Access
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Familial cortical myoclonic tremor (FAME) has so far been mapped to regions on chromosome 2, 3, 5 and 8 and pentameric repeat expansions in SAMD12 were identified as cause of FAME1. Here, Corbett et al. identify ATTTT/ATTTC repeat expansions in intron 1 of STARD7 in individuals with FAME2.”
- Mark A. Corbett
- , Thessa Kroes
- & Jozef Gecz
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat