ArticleBMC genomics2008
Short tandem repeats in human exons: a target for disease mutations.
Article in BMC genomics, 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, 66 citations in OpenAlex.
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- Discovery of miRNAs and Development of Heat-Responsive miRNA-SSR Markers for Characterization of Wheat Germplasm for Terminal Heat Tolerance Breeding.Frontiers in genetics · 2021Article
- Large scale in silico characterization of repeat expansion variation in human genomes.Scientific data · 2020Article
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- RepeatsDB 2.0: improved annotation, classification, search and visualization of repeat protein structures.Nucleic acids research · 2017Article
- Reverse Transcription Errors and RNA-DNA Differences at Short Tandem Repeats.Molecular biology and evolution · 2016Article
- Recent evolution of the salivary mucin MUC7.Scientific reports · 2016Article
- Applications of microfluidics and microchip electrophoresis for potential clinical biomarker analysis.Analytical and bioanalytical chemistry · 2015Review
- Detection and characterization of small insertion and deletion genetic variants in modern layer chicken genomes.BMC genomics · 2015Article
- Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.PLoS genetics · 2014Article
- Mature microsatellites: mechanisms underlying dinucleotide microsatellite mutational biases in human cells.G3 (Bethesda, Md.) · 2013Article
- DNA capture-probe based separation of double-stranded polymerase chain reaction amplification products in poly(dimethylsiloxane) microfluidic channels.Biomicrofluidics · 2012Article
- Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target.Nucleic acids research · 2012Review
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- 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 at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn recent years it has been demonstrated that structural variations, such as indels (insertions and deletions), are common throughout the genome, but the implications of structural variations are still not clearly understood. Long tandem repeats (e.g. microsatellites or simple repeats) are known to be hypermutable (indel-rich), but are rare in exons and only occasionally associated with diseases. Here we focus on short (imperfect) tandem repeats (STRs) which fall below the radar of conventional tandem repeat detection, and investigate whether STRs are targets for disease-related mutations in human exons. In particular, we test whether they share the hypermutability of the longer tandem repeats and whether disease-related genes have a higher STR content than non-disease-related genes.
resultsWe show that validated human indels are extremely common in STR regions compared to non-STR regions. In contrast to longer tandem repeats, our definition of STRs found them to be present in exons of most known human genes (92%), 99% of all STR sequences in exons are shorter than 33 base pairs and 62% of all STR sequences are imperfect repeats. We also demonstrate that STRs are significantly overrepresented in disease-related genes in both human and mouse. These results are preserved when we limit the analysis to STRs outside known longer tandem repeats.
conclusionBased on our findings we conclude that STRs represent hypermutable regions in the human genome that are linked to human disease. In addition, STRs constitute an obvious target when screening for rare mutations, because of the relatively low amount of STRs in exons (1,973,844 bp) and the limited length of STR regions.
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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.