Journal
CELL RESEARCH
Volume 18, Issue 1, Pages 198-213Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/cr.2008.5
Keywords
microsatellite instability; trinucleotide repeats; base excision repair; break repair; OGG1; Huntington's disease; myotonic dystrophy
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Funding
- NATIONAL CANCER INSTITUTE [K12CA090628] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM066359] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS040738] Funding Source: NIH RePORTER
- NCI NIH HHS [K12 CA 90628] Funding Source: Medline
- NIGMS NIH HHS [GM 066359] Funding Source: Medline
- NINDS NIH HHS [NS40738] Funding Source: Medline
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Unstable repeats are associated with various types of cancer and have been implicated in more than 40 neurodegenerative disorders. Trinucleotide repeats are located in non-coding and coding regions of the genome. Studies of bacteria, yeast, mice and man have helped to unravel some features of the mechanism of trinucleotide expansion. Looped DNA structures comprising trinucleotide repeats are processed during replication and/or repair to generate deletions or expansions. Most in vivo data are consistent with a model in which expansion and deletion occur by different mechanisms. In mammals, microsatellite instability is complex and appears to be influenced by genetic, epigenetic and developmental factors.
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