Mutation Patterns at Dinucleotide Microsatellite Loci in Humans
AUTOR(ES)
Huang, Qing-Yang
FONTE
The American Society of Human Genetics
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=384942Documentos Relacionados
- Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci
- Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited
- Heterogeneity in the rate and pattern of germline mutation at individual microsatellite loci
- Dynamics of Repeat Polymorphisms under a Forward-Backward Mutation Model: within- and between-Population Variability at Microsatellite Loci
- Unexpectedly Complex Editing Patterns at Dinucleotide Insertion Sites in Physarum Mitochondria