ArticleNucleic acids research2009
ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice.
Article in Nucleic acids research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 36 citations in OpenAlex.
- Large-scale expansions of Friedreich's ataxia GAA•TTC repeats in an experimental human system: role of DNA replication and prevention by LNA-DNA oligonucleotides and PNA oligomers.Nucleic acids research · 2023Article
- Sleep deficiency as a driver of cellular stress and damage in neurological disorders.Sleep medicine reviews · 2022Review
- Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.Brain sciences · 2019Article
- Review
- Contracting CAG/CTG repeats using the CRISPR-Cas9 nickase.Nature communications · 2016Article
- Review
- Stabilization of histone demethylase PHF8 by USP7 promotes breast carcinogenesis.The Journal of clinical investigation · 2016Article
- CGG-repeat dynamics andMolecular autism · 2016Article
- Cis-acting DNA sequence at a replication origin promotes repeat expansion to fragile X full mutation.The Journal of cell biology · 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
- The multiple molecular facets of 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
- DNA repair/replication transcripts are down regulated in patients with Fragile X Syndrome.BMC research notes · 2013Article
- Somatic expansion in mouse and human carriers of fragile X premutation alleles.Human mutation · 2013Article
- Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.Biochimica et biophysica acta · 2012Review
- Altered replication in human cells promotes DMPK (CTG)(n) · (CAG)(n) repeat instability.Molecular and cellular biology · 2012Article
- Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.Annals of human genetics · 2012Review
- Instability of (CTG)n•(CAG)n trinucleotide repeats and DNA synthesis.Cell & bioscience · 2012Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Expansion of a tandem repeat tract is responsible for the Repeat Expansion diseases, a group of more than 20 human genetic disorders that includes those like Fragile X (FX) syndrome that result from repeat expansion in the FMR1 gene. We have previously shown that the ATM and Rad3-related (ATR) checkpoint kinase protects the genome against one type of repeat expansion in a FX premutation mouse model. By crossing the FX premutation mice to Ataxia Telangiectasia-Mutated (Atm) mutant mice, we show here that ATM also prevents repeat expansion. However, our data suggest that the ATM-sensitive mechanism is different from the ATR-sensitive one. Specifically, the effect of the ATM deficiency is more marked when the premutation allele is paternally transmitted and expansions occur more frequently in male offspring regardless of the Atm genotype of the offspring. The gender effect is most consistent with a repair event occurring in the early embryo that is more efficient in females, perhaps as a result of the action of an X-linked DNA repair gene. Our data thus support the hypothesis that two different mechanisms of FX repeat expansion exist, an ATR-sensitive mechanism seen on maternal transmission and an ATM-sensitive mechanism that shows a male expansion bias.
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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.