ArticleGenetics1998
Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories.
Article in Genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
46 citing papers in PubMed, 158 citations in OpenAlex.
- A Statistical Framework to Infer the Mutation Model of Tandem Repeat Variants.bioRxiv : the preprint server for biology · 2026Article
- An evaluation of sequencing coverage and genotyping strategies to assess neutral and adaptive diversity.Molecular ecology resources · 2019Article
- Reverse Transcription Errors and RNA-DNA Differences at Short Tandem Repeats.Molecular biology and evolution · 2016Article
- High levels of genetic diversity and population structure in an endemic and rare species: implications for conservation.AoB PLANTS · 2016Article
- Primate DNA suggests long-term stability of an African rainforest.Ecology and evolution · 2012Article
- A novel approach for choosing summary statistics in approximate Bayesian computation.Genetics · 2012Article
- A genomic portrait of human microsatellite variation.Molecular biology and evolution · 2011Article
- Determining microsatellite genotyping reliability and mutation detection ability: an approach using small-pool PCR from sperm DNA.Molecular genetics and genomics : MGG · 2011Article
- In defence of model-based inference in phylogeography.Molecular ecology · 2010Article
- The rate and spectrum of microsatellite mutation in Caenorhabditis elegans and Daphnia pulex.Genetics · 2008Article
- Tracing genetic history of modern humans using X-chromosome lineages.Human genetics · 2007Article
- An unusually low microsatellite mutation rate in Dictyostelium discoideum, an organism with unusually abundant microsatellites.Genetics · 2007Article
- A brief review of short tandem repeat mutation.Genomics, proteomics & bioinformatics · 2007Review
- Article
- Estimation of effective population sizes from data on genetic markers.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2005Review
- Article
- Comparative genetics of functional trinucleotide tandem repeats in humans and apes.Journal of molecular evolution · 2004Article
- The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time.American journal of human genetics · 2004Article
- Article
- Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity.American journal of human genetics · 2003Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
Microsatellites have been widely used to reconstruct human evolution. However, the efficient use of these markers relies on information regarding the process producing the observed variation. Here, we present a novel approach to the locus-by-locus characterization of this process. By analyzing somatic mutations in cancer patients, we estimated the distributions of mutation size for each of 20 loci. The same loci were then typed in three ethnically diverse population samples. The generalized stepwise mutation model was used to test the predicted relationship between population and mutation parameters under two demographic scenarios: constant population size and rapid expansion. The agreement between the observed and expected relationship between population and mutation parameters, even when the latter are estimated in cancer patients, confirms that somatic mutations may be useful for investigating the process underlying population variation. Estimated distributions of mutation size differ substantially amongst loci, and mutations of more than one repeat unit are common. A new statistic, the normalized population variance, is introduced for multilocus estimation of demographic parameters, and for testing demographic scenarios. The observed population variation is not consistent with a constant population size. Time estimates of the putative population expansion are in agreement with those obtained by other methods.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.