ArticleAmerican journal of human genetics1996
Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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Who cites it
23 citing papers in PubMed, 70 citations in OpenAlex.
- Emerging drivers of DNA repeat expansions.Biochemical Society transactions · 2025Review
- Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.Cell · 2023Article
- Native functions of short tandem repeats.eLife · 2023Article
- Fragile sites, chromosomal lesions, tandem repeats, and disease.Frontiers in genetics · 2022Review
- Alternative DNA StructuresMicrobiology and molecular biology reviews : MMBR · 2021Review
- Human DNA Helicase B as a Candidate for Unwinding Secondary CGG Repeat Structures at theFrontiers in molecular neuroscience · 2018Article
- Of Men and Mice: Modeling the Fragile X Syndrome.Frontiers in molecular neuroscience · 2018Article
- Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites.Advances in experimental medicine and biology · 2017Review
- Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.Mutation research · 2015Article
- Preferential Breakpoints in the Recovery of Broken Dicentric Chromosomes in Drosophila melanogaster.Genetics · 2015Article
- Temporal differences in DNA replication during the S phase using single fiber analysis of normal human fibroblasts and glioblastoma T98G cells.Cell cycle (Georgetown, Tex.) · 2009Article
- Replication fork stalling at natural impediments.Microbiology and molecular biology reviews : MMBR · 2007Review
- An origin of DNA replication in the promoter region of the human fragile X mental retardation (FMR1) gene.Molecular and cellular biology · 2007Article
- Role of replication and CpG methylation in fragile X syndrome CGG deletions in primate cells.American journal of human genetics · 2005Article
- Two breakpoint clusters at fragile site FRA3B form phased nucleosomes.Genome research · 2004Article
- Molecular basis for expression of common and rare fragile sites.Molecular and cellular biology · 2003Article
- Expansion of the (CTG)(n) repeat in the 5'-UTR of a reporter gene impedes translation.Nucleic acids research · 2000Article
- Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability.Molecular and cellular biology · 2000Article
- Analysis of replication timing at the FRA10B and FRA16B fragile site loci.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2000Article
- Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Trinucleotide repeat expansions have been implicated in the causation of a number of neurodegenerative disorders. In the case of fragile X syndrome, full expansion of the FMR1 repeat element (CGG)n has also been correlated with replication timing delay of the locus and proximal flanking sequences in male lymphoblasts. To define more extensively this altered region of DNA replication, as well as to extend these studies to female cells containing premutant and mutant alleles, study of the replication timing properties of a >2-Mb zone in the FRAXA region (Xq27.3-q28) was undertaken by using a FISH technique. In this assay, relative times of replication of specific loci are inferred from the ratios of singlet and doublet hybridization signals in interphase nuclei. In all individuals with a full expansion of the trinucleotide repeat, a large (1-1.2-Mb) region of delayed timing was observed; the apparent timing of the earlier-replicating allele in female cells in this region was intermediate between normal and affected alleles in males, which is in accordance with expectations of a mixed population of cells resulting from random X inactivation. In addition, expansion of the nearby FRAXE locus also was found to correlate with replication timing delay, although the extent of the altered region was somewhat less. Trinucleotide repeat expansion thus may be acting in the Xq27.3-q28 region to alter long-range chromatin structure that could influence transcription of gene sequences within the affected domain.
Indexed as
Identifiers
8755928PMC1914744W2992013007What OpenQuestion holds
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.