ArticleBiology letters2016
Heterozygosity increases microsatellite mutation rate.
Article in Biology letters, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 33 citations in OpenAlex.
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- Genome-wide simple sequence repeat markers in potato: abundance, distribution, composition, and polymorphism.DNA research : an international journal for rapid publication of reports on genes and genomes · 2021Article
- Genome-wide characterization of microsatellite DNA in fishes: survey and analysis of their abundance and frequency in genome-specific regions.BMC genomics · 2021Article
- Global allele polymorphism indicates a high rate of allele genesis at a locus under balancing selection.Heredity · 2021Article
- Comparison of the Microsatellite Distribution Patterns in the Genomes of Euarchontoglires at the Taxonomic Level.Frontiers in genetics · 2021Article
- Genotypic similarities among the parthenogenetic Darevskia rock lizards with different hybrid origins.BMC evolutionary biology · 2020Article
- De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Flanking heterozygosity influences the relative probability of different base substitutions in humans.Royal Society open science · 2019Article
- Population genomics of an outbreak of the potato late blight pathogen, Phytophthora infestans, reveals both clonality and high genotypic diversity.Molecular plant pathology · 2019Article
- The effects of transcription and recombination on mutational dynamics of short tandem repeats.Nucleic acids research · 2018Article
- Article
- Examination of Clock and Adcyap1 gene variation in a neotropical migratory passerine.PloS one · 2018Article
- Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai.International journal of legal medicine · 2016Article
- Reverse Transcription Errors and RNA-DNA Differences at Short Tandem Repeats.Molecular biology and evolution · 2016Article
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Authors and funding
1 author at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Whole genome sequencing of families of Arabidopsis has recently lent strong support to the heterozygote instability (HI) hypothesis that heterozygosity locally increases mutation rate. However, there is an important theoretical difference between the impact on base substitutions, where mutation rate increases in regions surrounding a heterozygous site, and the impact of HI on sequences such as microsatellites, where mutations are likely to occur at the heterozygous site itself. At microsatellite loci, HI should create a positive feedback loop, with heterozygosity and mutation rate mutually increasing each other. Direct support for HI acting on microsatellites is limited and contradictory. I therefore analysed AC microsatellites in 1163 genome sequences from the 1000 genomes project. I used the presence of rare alleles, which are likely to be very recent in origin, as a surrogate measure of mutation rate. I show that rare alleles are more likely to occur at locus-population combinations with higher heterozygosity even when all populations carry exactly the same number of alleles.
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