ArticleNucleic acids research2008
ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.
Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 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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Who cites it
46 citing papers in PubMed, 54 citations in OpenAlex.
- Long-read sequencing reveals extensivebioRxiv : the preprint server for biology · 2025Article
- Sleep deficiency as a driver of cellular stress and damage in neurological disorders.Sleep medicine reviews · 2022Review
- Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions.Nature reviews. Neurology · 2022Review
- Review
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.Brain sciences · 2019Article
- Genome-wide Identification of Structure-Forming Repeats as Principal Sites of Fork Collapse upon ATR Inhibition.Molecular cell · 2018Article
- Review
- Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase.Nature communications · 2016Article
- Review
- CGG-repeat dynamics andMolecular autism · 2016Article
- X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion.Human molecular genetics · 2014Article
- Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.PLoS genetics · 2014Article
- Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disorders.Human mutation · 2014Article
- Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.Journal of neurodevelopmental disorders · 2014Review
- The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.Human mutation · 2014Article
- Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.Frontiers in genetics · 2014Review
- The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.Journal of neurodevelopmental disorders · 2014Review
- Chromatin modifications and DNA repair: beyond double-strand breaks.Frontiers in genetics · 2014Review
- Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo.Cell cycle (Georgetown, Tex.) · 2014Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Fragile X mental retardation syndrome is a repeat expansion disease caused by expansion of a CGG.CCG-repeat tract in the 5' UTR of the FMR1 gene. In humans, small expansions occur more frequently on paternal transmission while large expansions are exclusively maternal in origin. It has been suggested that expansion is the result of aberrant DNA replication, repair or recombination. To distinguish amongst these possibilities we crossed mice containing 120 CGG.CCG-repeats in the 5' UTR of the mouse Fmr1 gene to mice with mutations in ATR, a protein important in the cellular response to stalled replication forks and bulky DNA lesions. We show here that ATR heterozygosity results in increased expansion rates of maternally, but not paternally, transmitted alleles. In addition, age-related somatic expansions occurred in mice of both genders that were not seen in ATR wild-type animals. Some ATR-sensitive expansion occurs in postmitotic cells including haploid gametes suggesting that aberrant DNA repair is responsible. Our data suggest that two mechanisms of repeat expansion exist that may explain the small and large expansions seen in humans. In addition, our data provide an explanation for the maternal bias of large expansions in humans and the lower incidence of these expansions in mice.
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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.