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Mutation Patterns at Dinucleotide Microsatellite Loci in Humans |
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| Authors: | Qing-Yang Huang Fu-Hua Xu Hui Shen Hong-Yi Deng Yong-Jun Liu Yao-Zhong Liu Jin-Long Li Robert R Recker and Hong-Wen Deng |
| Affiliation: | 1 Osteoporosis Research Center, Creighton University, Omaha 2 Department of Biomedical Sciences, Creighton University, Omaha 3 Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, Peoples' Republic of China |
| Abstract: | Microsatellites are a major type of molecular markers in genetics studies. Their mutational dynamics are not clear. We investigated the patterns and characteristics of 97 mutation events unambiguously identified, from 53 multigenerational pedigrees with 630 subjects, at 362 autosomal dinucleotide microsatellite loci. A size-dependent mutation bias (in which long alleles are biased toward contraction, whereas short alleles are biased toward expansion) is observed. There is a statistically significant negative relationship between the magnitude (repeat numbers changed during mutation) and direction (contraction or expansion) of mutations and standardized allele size. Contrasting with earlier findings in humans, most mutation events (63%) in our study are multistep events that involve changes of more than one repeat unit. There was no correlation between mutation rate and recombination rate. Our data indicate that mutational dynamics at microsatellite loci are more complicated than the generalized stepwise mutation models. |
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