ReviewProceedings of the National Academy of Sciences of the United States of America1995
Simple tandem DNA repeats and human genetic disease.
Review in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
What it found
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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
72 citing papers in PubMed, 337 citations in OpenAlex.
- Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation.The New phytologist · 2025Review
- Effects of PCNA Stability on the Formation of Mutations.International journal of molecular sciences · 2024Article
- ULTRA-Effective Labeling of Repetitive Genomic Sequence.bioRxiv : the preprint server for biology · 2024Article
- ULTRA-effective labeling of tandem repeats in genomic sequence.Bioinformatics advances · 2024Article
- How sequence alterations enhance the stability and delay expansion of DNA triplet repeat domains.QRB discovery · 2023Review
- Breaking the paradigm: early insights from mammalian DNA breakomes.The FEBS journal · 2022Review
- Possibilities and challenges of small molecule organic compounds for the treatment of repeat diseases.Proceedings of the Japan Academy. Series B, Physical and biological sciences · 2022Article
- Characterization of Simple Sequence Repeats (SSRs) in Ciliated Protists Inferred by Comparative Genomics.Microorganisms · 2020Article
- Use of local genetic ancestry to assessNeurology. Genetics · 2020Article
- Tandem repeats lead to sequence assembly errors and impose multi-level challenges for genome and protein databases.Nucleic acids research · 2019Review
- Dynamic DNA Energy Landscapes and Substrate Complexity in Triplet Repeat Expansion and DNA Repair.Biomolecules · 2019Article
- Identification of novel polymorphism in buffalo stanniocalcin-1 gene and its expression analysis in mammary gland under different stages of lactation.Journal of genetics · 2019Article
- Predicting the mutations generated by repair of Cas9-induced double-strand breaks.Nature biotechnology · 2018Article
- Are all repeats created equal? Understanding DNA repeats at an individual level.Current genetics · 2017Review
- Review
- Periodic power spectrum with applications in detection of latent periodicities in DNA sequences.Journal of mathematical biology · 2016Article
- De novo sequencing, assembly and analysis of eight different transcriptomes from the Malayan pangolin.Scientific reports · 2016Article
- Microsatellites in Pursuit of Microbial Genome Evolution.Frontiers in microbiology · 2015Review
- Discretized Gaussian mixture for genotyping of microsatellite loci containing homopolymer runs.Bioinformatics (Oxford, England) · 2014Article
- Androgen receptor polyglutamine repeat number: models of selection and disease susceptibility.Evolutionary applications · 2013Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The human genome contains many repeated DNA sequences that vary in complexity of repeating unit from a single nucleotide to a whole gene. The repeat sequences can be widely dispersed or in simple tandem arrays. Arrays of up to 5 or 6 nt are known as simple tandem repeats, and these are widely dispersed and highly polymorphic. Members of one group of the simple tandem repeats, the trinucleotide repeats, can undergo an increase in copy number by a process of dynamic mutation. Dynamic mutations of the CCG trinucleotide give rise to one group of fragile sites on human chromosomes, the rare folate-sensitive group. One member of this group, the fragile X (FRAXA) is responsible for the most common familial form of mental retardation. Another member of the group FRAXE is responsible for a rarer mild form of mental retardation. Similar mutations of AGC repeats give rise to a number of neurological disorders. The expanded repeats are unstable between generations and somatically. The intergenerational instability gives rise to unusual patterns of inheritance--particularly anticipation, the increasing severity and/or earlier age of onset of the disorder in successive generations. Dynamic mutations have been found only in the human species, and possible reasons for this are considered. The mechanism of dynamic mutation is discussed, and a number of observations of simple tandem repeat mutation that could assist in understanding this phenomenon are commented on.
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Registered trials
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.