ArticleBiochemistry2010
AGG interruptions in (CGG)(n) DNA repeat tracts modulate the structure and thermodynamics of non-B conformations in vitro.
Article in Biochemistry, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.Biomolecules · 2024Review
- A single CAA interrupt in a DNA three-way junction containing a CAG repeat hairpin results in parity-dependent trapping.Nucleic acids research · 2024Article
- How sequence alterations enhance the stability and delay expansion of DNA triplet repeat domains.QRB discovery · 2023Review
- De novo transcriptome assembly, gene annotation, and EST-SSR marker development of an important medicinal and edible crop, Amomum tsaoko (Zingiberaceae).BMC plant biology · 2022Article
- Mechanisms of theInternational journal of molecular sciences · 2022Review
- Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome.Frontiers in genetics · 2022Review
- Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.American journal of medical genetics. Part A · 2019Article
- CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.Frontiers in genetics · 2018Article
- FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation.Frontiers in genetics · 2018Article
- Correlation of Thermal Stability and Structural Distortion of DNA Interstrand Cross-Links Produced from Oxidized Abasic Sites with Their Selective Formation and Repair.Biochemistry · 2015Article
- The Repeat Expansion Diseases: The dark side of DNA repair.DNA repair · 2015Review
- Mechanism of siRNA production from repetitive DNA.Genes & development · 2015Article
- DNA secondary structure at chromosomal fragile sites in human disease.Current genomics · 2015Article
- Microsatellite interruptions stabilize primate genomes and exist as population-specific single nucleotide polymorphisms within individual human genomes.PLoS genetics · 2014Article
- The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.Frontiers in genetics · 2014Review
- Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.Frontiers in genetics · 2014Review
- AGG/CCT interruptions affect nucleosome formation and positioning of healthy-length CGG/CCG triplet repeats.BMC biochemistry · 2013Article
- A dual-mode single-molecule fluorescence assay for the detection of expanded CGG repeats in Fragile X syndrome.Molecular biotechnology · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The trinucleotide repeat sequence CGG/CCG is known to expand in the human genome. This expansion is the primary pathogenic signature of fragile X syndrome, which is the most common form of inherited mental retardation. It has been proposed that formation of non-B conformations by the repetitive sequence contributes to the expansion mechanism. It is also known that the CGG/CCG repeat sequence of healthy individuals, which is not prone to expansion, contains AGG/CCT interruptions every 8-11 CGG/CCG repeats. Using DNA containing 19 or 39 CGG repeats, we have found that both the position and number of interruptions modulate the non-B conformation adopted by the repeat sequence. Analysis by chemical probes revealed larger loops and the presence of bulges for sequences containing interruptions. Additionally, using optical analysis and calorimetry, the effect of these structural changes on the thermodynamic stability of the conformation has been quantified. Notably, changing even one nucleotide, as occurs when CGG is replaced with an AGG interruption, causes a measurable decrease in the stability of the conformation adopted by the repeat sequence. These results provide insight into the role interruptions may play in preventing expansion in vivo and also contribute to our understanding of the relationship between non-B conformations and trinucleotide repeat expansion.
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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.