Features of trinucleotide repeat instability in vivo.
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.
Kovtun
Irina V
IV
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, 200 First Street, SW, Rochester, MN 55905, USA. kovtun.irina@mayo.edu
McMurray
Cynthia T
CT
D000818:Animals; D001483:Base Sequence; D002843:Chromatin / Q000502:physiology; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D053842:Microsatellite Instability; D008954:Models, Biological; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D050436:Regulatory Elements, Transcriptional / Q000502:physiology; D018911:Trinucleotide Repeats / Q000235:genetics* / Q000502:physiology*
D002843:Chromatin