Trinucleotide repeat expansions: timing is everything.
The expansion of trinucleotide repeats is known to cause a growing number of human diseases. However, the mechanism and timing of expansions are poorly understood. Recent studies indicate that expansion mutations occur by multiple pathways during both meiotic and mitotic divisions, and at various stages of cell division. In addition, mismatch repair proteins play a major part in generating expansions.
Nag
Dilip K
DK
Molecular Genetics Program, Wadsworth Center, 120 New Scotland Avenue, Albany, NY 12208, USA. dilip.nag@wadsworth.org
D004247:DNA / Q000235:genetics / Q000378:metabolism; D004260:DNA Repair; D004261:DNA Replication; D004268:DNA-Binding Proteins / Q000378:metabolism; D042822:Genomic Instability; D006801:Humans; D008540:Meiosis; D051718:MutS Homolog 2 Protein; D011518:Proto-Oncogene Proteins / Q000378:metabolism; D019680:Trinucleotide Repeat Expansion
D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D004247:DNA; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein