Features of trinucleotide repeat instability in vivo
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摘要:
Unstable repeats are associated with various types of cancer and have been implicated in more than 40 neurode-generative 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 differ-ent mechanisms. In mammals, microsatellite instability is complex and appears to he influenced by genetic, epigenetic and developmental factors.