ArticleGenetics2005
Mutation rate variation at human dinucleotide microsatellites.
Article in Genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- The timing of pigmentation lightening in Europeans.Molecular biology and evolution · 2013Article
- Genetic diversity of microsatellite loci in hierarchically structured populations.Theoretical population biology · 2011Article
- Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation.Proceedings. Biological sciences · 2009Article
- A genomewide comparison of population structure at STRPs and nearby SNPs in humans.Molecular biology and evolution · 2009Article
- A genome-scan method to identify selected loci appropriate for both dominant and codominant markers: a Bayesian perspective.Genetics · 2008Article
- Experimental estimation of mutation rates in a wheat population with a gene genealogy approach.Genetics · 2008Article
- The rate and spectrum of microsatellite mutation in Caenorhabditis elegans and Daphnia pulex.Genetics · 2008Article
- Comparisons of mutation rate variation at genome-wide microsatellites: evolutionary insights from two cultivated rice and their wild relatives.BMC evolutionary biology · 2008Article
- A worldwide phylogeography for the human X chromosome.PloS one · 2007Article
- Independent methods for evolutionary genetic dating provide insights into Y-chromosomal STR mutation rates confirming data from direct father-son transmissions.Human genetics · 2005Article
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Authors and funding
3 authors.
Funding
Abstract
Mutation is the ultimate source of genetic variation, and mutation rate is thus an important parameter governing the extent of genetic variation. Microsatellites are highly informative genetic markers that have been widely used in genetic studies. While previous studies showed that the mutation rate differs in di-, tri-, and tetranucleotide repeats, how mutation rate distributes within each class of repeat is poorly understood. This study first revealed the pattern of the mutation rate variation within the dinucleotide repeats. Two data sets were used. The first is the allele frequency data from 115 microsatellites with dinucleotide repeats distributed along the human genome in 10 worldwide populations. The second data set is much larger, consisting of the allele frequency of 5252 dinucleotide repeats from the Genome Database. Mutation rate for each locus is estimated through a new homozygosity-based estimator, which has been shown to be unbiased and highly efficient and is reasonably robust against deviations from the single-step model. The mutation rates among loci can be approximated well by a gamma distribution and its shape parameter can be accurately estimated with this approach. This result provides the basic guidelines for analyzing the large-scale genomic data from microsatellite loci.
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Registered trials
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