Features of trinucleotide repeat instability in vivo

作者: Irina V Kovtun , Cynthia T McMurray

DOI: 10.1038/CR.2008.5

关键词:

摘要: Unstable repeats are associated with various types of cancer and have been implicated in more than 40 neurodegenerative disorders. Trinucleotide located non-coding coding regions the genome. Studies bacteria, yeast, mice man helped to unravel some features mechanism trinucleotide expansion. Looped DNA structures comprising processed during replication and/or repair generate deletions or expansions. Most vivo data consistent a model which expansion deletion occur by different mechanisms. In mammals, microsatellite instability is complex appears be influenced genetic, epigenetic developmental factors.

参考文章(172)
C K Stein, T W Glover, Chromosome breakage and recombination at fragile sites. American Journal of Human Genetics. ,vol. 43, pp. 265- 273 ,(1988)
I.V. KOVTUN, C.T. MCMURRAY, CHAPTER 43 – Models of Repair Underlying Trinucleotide DNA Expansion Genetic Instabilities and Neurological Diseases (Second Edition). pp. 679- 690 ,(2006) , 10.1016/B978-012369462-1/50044-2
Hirokazu Fukuda, Masato Katahira, Etsuko Tanaka, Yoshiaki Enokizono, Naoto Tsuchiya, Kumiko Higuchi, Minako Nagao, Hitoshi Nakagama, Unfolding of higher DNA structures formed by the d(CGG) triplet repeat by UP1 protein. Genes to Cells. ,vol. 10, pp. 953- 962 ,(2005) , 10.1111/J.1365-2443.2005.00896.X
Kevin Manley, Thomas L. Shirley, Lorraine Flaherty, Anne Messer, Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nature Genetics. ,vol. 23, pp. 471- 473 ,(1999) , 10.1038/70598
Galina N. Filippova, Cortlandt P. Thienes, Bennett H. Penn, Diane H. Cho, Ying Jia Hu, James M. Moore, Todd R. Klesert, Victor V. Lobanenkov, Stephen J. Tapscott, CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus Nature Genetics. ,vol. 28, pp. 335- 343 ,(2001) , 10.1038/NG570
D. G. Monckton, C. S. Richards, L. J C Wong, C. T. Caskey, T. Ashizawa, Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. American Journal of Human Genetics. ,vol. 56, pp. 114- 122 ,(1995)
Irina V. Kovtun, Cynthia T. McMurray, Trinucleotide expansion in haploid germ cells by gap repair Nature Genetics. ,vol. 27, pp. 407- 411 ,(2001) , 10.1038/86906
Richard R Sinden, Malgorzata J Pytlos-Sinden, Vladimir N Potaman, Slipped strand DNA structures Frontiers in Bioscience. ,vol. 12, pp. 4788- 4799 ,(2007) , 10.2741/2427
John P. Jakupciak, Robert D. Wells, Gene Conversion (Recombination) Mediates Expansions of CTG·CAG Repeats Journal of Biological Chemistry. ,vol. 275, pp. 40003- 40013 ,(2000) , 10.1074/JBC.M007153200
Michael J Dixon, Robert S Lahue, DNA elements important for CAG*CTG repeat thresholds in Saccharomyces cerevisiae. Nucleic Acids Research. ,vol. 32, pp. 1289- 1297 ,(2004) , 10.1093/NAR/GKH292