ArticleMolecular genetics and genomics : MGG2008
Replication slippage versus point mutation rates in short tandem repeats of the human genome.
Article in Molecular genetics and genomics : MGG, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Genetic and Epigenetic Mechanisms Underlying Reversible Adaptive Responses in Fungi.Journal of fungi (Basel, Switzerland) · 2026Review
- Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.Nature communications · 2025Article
- Highly accurate Korean draft genomes reveal structural variation highlighting human telomere evolution.Nucleic acids research · 2025Article
- WAS IT A MATch I SAW? Approximate palindromes lead to overstated false match rates in benchmarks using reversed sequences.Bioinformatics advances · 2024Article
- Short Tandem Repeat Variation in theFrontiers in genetics · 2022Article
- Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.Nature communications · 2020Article
- Estimation of duplication history under a stochastic model for tandem repeats.BMC bioinformatics · 2019Article
- Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.Human genetics · 2016Article
- Novel Y-chromosome Short Tandem Repeat Variants Detected Through the Use of Massively Parallel Sequencing.Genomics, proteomics & bioinformatics · 2015Article
- Article
- Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.PLoS genetics · 2014Article
- Comparison of southern Chinese Han and Brazilian Caucasian mutation rates at autosomal short tandem repeat loci used in human forensic genetics.International journal of legal medicine · 2014Article
- Population-scale analysis of human microsatellites reveals novel sources of exonic variation.Gene · 2013Article
- Evolution of coding microsatellites in primate genomes.Genome biology and evolution · 2013Article
- Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target.Nucleic acids research · 2012Review
- A matter of life or death: how microsatellites emerge in and vanish from the human genome.Genome research · 2011Article
- Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications.American journal of human genetics · 2010Article
- Mutation biases and mutation rate variation around very short human microsatellites revealed by human-chimpanzee-orangutan genomic sequence alignments.Journal of molecular evolution · 2010Article
- AGG interruptions in (CGG)(n) DNA repeat tracts modulate the structure and thermodynamics of non-B conformations in vitro.Biochemistry · 2010Article
- Trinucleotide repeats in human genome and exome.Nucleic acids research · 2010Article
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Authors and funding
3 authors.
Funding
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Abstract
Short tandem repeats (STRs) are subjected to two kinds of mutational modifications: point mutations and replication slippages. The latter is found to be the more frequent cause of STR modifications, but a satisfactory quantitative measure of the ratio of the two processes has yet to be determined. The comparison of entire genome sequences of closely enough related species enables one to obtain sufficient statistics by counting the differences in the STR regions. We analyzed human-chimpanzee DNA sequence alignments to obtain the counts of point mutations and replication slippage modifications. The results were compared with the results of a computer simulation, and the parameters quantifying the replication slippage probability as well as the probabilities of point mutations within the repeats were determined. It was found that within the STRs with repeated units consisting of one, two or three nucleotides, point mutations occur approximately twice as frequently as one would expect on the basis of the 1.2% difference between the human and chimpanzee genomes. As expected, the replication slippage probability is negligible below a 10-bp threshold and grows above this level. The replication slippage events outnumber the point mutations by one or two orders of magnitude, but are still lower by one order of magnitude relative to the mutability of the markers that are used for genotyping purposes.
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