ArticleAmerican journal of human genetics2002
Mutation patterns at dinucleotide microsatellite loci in humans.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers.
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Who cites it
69 citing papers in PubMed.
- A family portrait of the genomic factors shaping tandem repeat mutagenesis.bioRxiv : the preprint server for biology · 2026Article
- CGG, CAG, and GAA: Genome-wide comparison of the disease linked trinucleotide short tandem repeats.BMC genomics · 2026Article
- Genome-wide selection inference at short tandem repeats.PLoS genetics · 2025Article
- High-fidelity, large-scale targeted profiling of microsatellites.Genome research · 2024Article
- Sequencing and characterizing short tandem repeats in the human genome.Nature reviews. Genetics · 2024Review
- Ancient and Modern Genomes Reveal Microsatellites Maintain a Dynamic Equilibrium Through Deep Time.Genome biology and evolution · 2024Article
- Analysis of genome instability and implications for the consequent phenotype inMicrobial genomics · 2023Article
- The mutational dynamics of short tandem repeats in large, multigenerational families.Genome biology · 2022Article
- Article
- STRs: Ancient Architectures of the Genome beyond the Sequence.Journal of molecular neuroscience : MN · 2021Review
- Genetic Structure and Forensic Feature of 38 X-Chromosome InDels in the Henan Han Chinese Population.Frontiers in genetics · 2021Article
- Article
- Genome- and transcriptome-derived microsatellite loci in lumpfish Cyclopterus lumpus: molecular tools for aquaculture, conservation and fisheries management.Scientific reports · 2020Article
- Genetic affinity between Ningxia Hui and eastern Asian populations revealed by a set of InDel loci.Royal Society open science · 2020Article
- Application of a SSR-GBS marker system on investigation of European Hedgehog species and their hybrid zone dynamics.Ecology and evolution · 2019Article
- Microsatellite Stability in STR AnalysisFrontiers in cellular and infection microbiology · 2019Article
- The effects of transcription and recombination on mutational dynamics of short tandem repeats.Nucleic acids research · 2018Article
- Interpreting short tandem repeat variations in humans using mutational constraint.Nature genetics · 2017Article
- Appropriate homoplasy metrics in linked SSRs to predict an underestimation of demographic expansion times.BMC evolutionary biology · 2017Article
- Strong population structure in a species manipulated by humans since the Neolithic: the European fallow deer (Dama dama dama).Heredity · 2017Article
9 more citing papers are in PubMed but not listed here.
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9 authors.
Funding
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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