ArticlePloS one2013
Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers.
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96 citing papers in PubMed, 214 citations in OpenAlex.
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- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
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- The contribution of short tandem repeats to splicing variation in the human cortex.bioRxiv : the preprint server for biology · 2026Article
- A distal promoter and aberrant splicing enable canonical translation of out-of-frame proteins in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- The CGG triplet repeat binding protein 1 counteracts R-loop induced transcription-replication stress.EMBO reports · 2025Article
- The structure, folding kinetics, and dynamics of long poly(UG) RNA.Nucleic acids research · 2025Article
- Evaluation of genetic instability of short tandem repeats in hepatocellular carcinoma.Scientific reports · 2025Article
- M-band wavelet-based multi-view clustering of cells.PLoS computational biology · 2025Article
- Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape.bioRxiv : the preprint server for biology · 2025Article
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- Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.Nature communications · 2025Article
- SATIN: a micro and mini satellite mining tool of total genome and coding regions with analysis of perfect repeats polymorphism in coding regions.BMC bioinformatics · 2024Article
- Assembly of continuous high-resolution draft genome sequence of Hemicentrotus pulcherrimus using long-read sequencing.Development, growth & differentiation · 2024Article
- Dyads of GGC and GCC form hotspot colonies that coincide with the evolution of human and other great apes.BMC genomic data · 2024Article
- The Potential Role of Genic-SSRs in Driving Ecological Adaptation Diversity inInternational journal of molecular sciences · 2024Article
- Solution Structure of Poly(UG) RNA.Journal of molecular biology · 2023Article
- Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.Human genetics · 2023Review
- Polygenic burden of short tandem repeat expansions promote risk for Alzheimer's disease.medRxiv : the preprint server for health sciences · 2023Article
- Genetic characteristics of spouse selection based on short tandem repeats in DNA and lunula count on fingertip.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2023Article
36 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tandem repeats are genomic elements that are prone to changes in repeat number and are thus often polymorphic. These sequences are found at a high density at the start of human genes, in the gene's promoter. Increasing empirical evidence suggests that length variation in these tandem repeats can affect gene regulation. One class of tandem repeats, known as microsatellites, rapidly alter in repeat number. Some of the genetic variation induced by microsatellites is known to result in phenotypic variation. Recently, our group developed a novel method for measuring the evolutionary conservation of microsatellites, and with it we discovered that human microsatellites near transcription start sites are often highly conserved. In this study, we examined the properties of microsatellites found in promoters. We found a high density of microsatellites at the start of genes. We showed that microsatellites are statistically associated with promoters using a wavelet analysis, which allowed us to test for associations on multiple scales and to control for other promoter related elements. Because promoter microsatellites tend to be G/C rich, we hypothesized that G/C rich regulatory elements may drive the association between microsatellites and promoters. Our results indicate that CpG islands, G-quadruplexes (G4) and untranslated regulatory regions have highly significant associations with microsatellites, but controlling for these elements in the analysis does not remove the association between microsatellites and promoters. Due to their intrinsic lability and their overlap with predicted functional elements, these results suggest that many promoter microsatellites have the potential to affect human phenotypes by generating mutations in regulatory elements, which may ultimately result in disease. We discuss the potential functions of human promoter microsatellites in this context.
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