Simple mathematical model of pathologic microsatellite expansions: when self-reparation does not work.

作者: Boris Veytsman , Leila Akhmadeyeva

DOI: 10.1016/J.JTBI.2006.03.008

关键词:

摘要: We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. prove that if the probabilities elementary expansions contractions are equal, always self-repairing. If these different, self-reparation does not work. Mosaicism, anticipation reverse mutation cases discussed in framework model. explain phenomena provide some theoretical evidence for their properties, example, rarity mutations.

参考文章(47)
Kateryna D. Makova, Anton Nekrutenko, Robert J. Baker, Evolution of microsatellite alleles in four species of mice (genus Apodemus). Journal of Molecular Evolution. ,vol. 51, pp. 166- 172 ,(2000) , 10.1007/S002390010077
Hans Ellegren, Heterogeneous mutation processes in human microsatellite DNA sequences. Nature Genetics. ,vol. 24, pp. 400- 402 ,(2000) , 10.1038/74249
Xin Xu, Mei Peng, Zhian Fang, Xiping Xu, The direction of microsatellite mutations is dependent upon allele length. Nature Genetics. ,vol. 24, pp. 396- 399 ,(2000) , 10.1038/74238
Richard T. Durrett, Charles F. Aquadro, Peter P. Calabrese, Dynamics of Microsatellite Divergence Under Stepwise Mutation and Proportional Slippage/Point Mutation Models Genetics. ,vol. 159, pp. 839- 852 ,(2001) , 10.1093/GENETICS/159.2.839
M. D. Shriver, E. Boerwinkle, Ranajit Chakraborty, Li Jin, VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach. Genetics. ,vol. 134, pp. 983- 993 ,(1993) , 10.1093/GENETICS/134.3.983
L L Cavalli-Sforza, M W Feldman, D B Goldstein, A Ruiz Linares, An evaluation of genetic distances for use with microsatellite loci. Genetics. ,vol. 139, pp. 463- 471 ,(1995) , 10.1093/GENETICS/139.1.463
Richard M. Sibly, Roger M. Harbord, Roger M. Harbord, John C. Whittaker, John C. Whittaker, Gary Dawson, Nicola Boxall, Ian Mackay, Likelihood-Based Estimation of Microsatellite Mutation Rates Genetics. ,vol. 164, pp. 781- 787 ,(2003) , 10.1093/GENETICS/164.2.781
Qing-Yang Huang, Fu-Hua Xu, Hui Shen, Hong-Yi Deng, Yong-Jun Liu, Yao-Zhong Liu, Jin-Long Li, Robert R. Recker, Hong-Wen Deng, Mutation Patterns at Dinucleotide Microsatellite Loci in Humans American Journal of Human Genetics. ,vol. 70, pp. 625- 634 ,(2002) , 10.1086/338997
S. Kruglyak, R. T. Durrett, M. D. Schug, C. F. Aquadro, Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations Proceedings of the National Academy of Sciences of the United States of America. ,vol. 95, pp. 10774- 10778 ,(1998) , 10.1073/PNAS.95.18.10774