ArticleProceedings of the National Academy of Sciences of the United States of America2009
Triplet repeat length bias and variation in the human transcriptome.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 36 citations in OpenAlex.
- Inherent instability of simple DNA repeats shapes an evolutionarily stable distribution of repeat lengths.Nature communications · 2025Article
- A deep population reference panel of tandem repeat variation.Nature communications · 2023Article
- A deep population reference panel of tandem repeat variation.bioRxiv : the preprint server for biology · 2023Article
- Large scale in silico characterization of repeat expansion variation in human genomes.Scientific data · 2020Article
- Signatures of selection in mammalian clock genes with coding trinucleotide repeats: Implications for studying the genomics of high-pace adaptation.Ecology and evolution · 2017Article
- Tandem repeat variation in human and great ape populations and its impact on gene expression divergence.Genome research · 2015Article
- MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals.Genome research · 2015Article
- The landscape of human STR variation.Genome research · 2014Article
- Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing.Human mutation · 2013Article
- Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target.Nucleic acids research · 2012Review
- Review
- Transcription-induced DNA toxicity at trinucleotide repeats: double bubble is trouble.Cell cycle (Georgetown, Tex.) · 2011Article
- Article
- A genomic portrait of human microsatellite variation.Molecular biology and evolution · 2011Article
- Increased polymorphism near low-complexity sequences across the genomes of Plasmodium falciparum isolates.Genome biology and evolution · 2011Article
- Non-B DB: a database of predicted non-B DNA-forming motifs in mammalian genomes.Nucleic acids research · 2011Article
- Trinucleotide repeats in human genome and exome.Nucleic acids research · 2010Article
- Article
- What is a microsatellite: a computational and experimental definition based upon repeat mutational behavior at A/T and GT/AC repeats.Genome biology and evolution · 2010Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
Length variation in short tandem repeats (STRs) is an important family of DNA polymorphisms with numerous applications in genetics, medicine, forensics, and evolutionary analysis. Several major diseases have been associated with length variation of trinucleotide (triplet) repeats including Huntington's disease, hereditary ataxias and spinobulbar muscular atrophy. Using the reference human genome, we have catalogued all triplet repeats in genic regions. This data revealed a bias in noncoding DNA repeat lengths. It also enabled a survey of repeat-length polymorphisms (RLPs) in human genomes and a comparison of the rate of polymorphism in humans versus divergence from chimpanzee. For short repeats, this analysis of three human genomes reveals a relatively low RLP rate in exons and, somewhat surprisingly, in introns. All short RLPs observed in multiple genomes are biallelic (at least in this small sample). In contrast, long repeats are highly polymorphic and some long RLPs are multiallelic. For long repeats, the chimpanzee sequence frequently differs from all observed human alleles. This suggests a high expansion/contraction rate in all long repeats. Expansions and contractions are not, however, affected by natural selection discernable from our comparison of human-chimpanzee divergence with human RLPs. Our catalog of human triplet repeats and their surrounding flanking regions can be used to produce a cost-effective whole-genome assay to test individuals. This repeat assay could someday complement SNP arrays for producing tests that assess the risk of an individual to develop a disease, or become part of personalized genomic strategy that provides therapeutic guidance with respect to drug response.
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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.