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Molecular and Cellular Biology Volume 32, 2012 - Issue 9
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Article

Altered Replication in Human Cells Promotes DMPK (CTG)n · (CAG)n Repeat Instability

Guoqi LiuDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USACorrespondence[email protected] [email protected]
,
Xiaomi ChenDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA
,
Yanzhe GaoDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA
,
Todd LewisDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA
,
Joanna BarthelemyDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USA
&
Michael LeffakDepartment of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, Ohio, USACorrespondence[email protected] [email protected]
Pages 1618-1632 | Received 15 Dec 2011, Accepted 10 Feb 2012, Published online: 20 Mar 2023

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Laura C Roseaulin, Chiaki Noguchi & Eishi Noguchi. (2013) Proteasome-dependent degradation of replisome components regulates faithful DNA replication. Cell Cycle 12:16, pages 2564-2569.
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Guoqi Liu, Xiaomi Chen & Michael Leffak. (2013) Oligodeoxynucleotide Binding to (CTG) · (CAG) Microsatellite Repeats Inhibits Replication Fork Stalling, Hairpin Formation, and Genome Instability. Molecular and Cellular Biology 33:3, pages 571-581.
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Stephanie L. Smith-Roe, Shivani S. Patel, Yingchun Zhou, Dennis A. Simpson, Shangbang Rao, Joseph G. Ibrahim, Marila Cordeiro-Stone & William K. Kaufmann. (2013) Separation of intra-S checkpoint protein contributions to DNA replication fork protection and genomic stability in normal human fibroblasts. Cell Cycle 12:2, pages 332-345.
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Adam R. Leman & Eishi Noguchi. (2012) Local and global functions of Timeless and Tipin in replication fork protection. Cell Cycle 11:21, pages 3945-3955.
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Anastasia Rastokina, Jorge Cebrián, Negin Mozafari, Nicholas H Mandel, C I Edvard Smith, Massimo Lopes, Rula Zain & Sergei M Mirkin. (2023) 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.
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Guliang Wang & Karen M. Vasquez. (2022) Dynamic alternative DNA structures in biology and disease. Nature Reviews Genetics 24:4, pages 211-234.
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Jinal A. Patel & Hyungjin Kim. (2023) The TIMELESS effort for timely DNA replication and protection. Cellular and Molecular Life Sciences 80:4.
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Tomonori Shibata & Kazuhiko Nakatani. (2023) A small molecule binding to TGGAA pentanucleotide repeats that cause spinocerebellar ataxia type 31. Bioorganic & Medicinal Chemistry Letters 79, pages 129082.
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Hao-Wen Hsiao, Chi-Chun Yang & Hisao Masai. (2021) Roles of Claspin in regulation of DNA replication, replication stress responses and oncogenesis in human cells. Genome Instability & Disease 2:5, pages 263-280.
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Rachel Adihe Lokanga, Daman Kumari & Karen Usdin. (2021) Common Threads: Aphidicolin-Inducible and Folate-Sensitive Fragile Sites in the Human Genome. Frontiers in Genetics 12.
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Vanessa C. Wheeler & Vincent Dion. (2021) Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models. Journal of Huntington's Disease 10:1, pages 123-148.
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Rujuta Yashodhan Gadgil, Eric J. Romer, Caitlin C. Goodman, S.Dean RiderJr.Jr., French J. Damewood, Joanna R. Barthelemy, Kazuo Shin-ya, Helmut Hanenberg & Michael Leffak. (2020) Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication. Journal of Biological Chemistry 295:45, pages 15378-15397.
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Catherine H Freudenreich. (2020) A Timeless Tale: G4 structure recognition by the fork protection complex triggers unwinding by DDX 11 helicase . The EMBO Journal 39:18.
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Leticia K Lerner, Sandro Holzer, Mairi L Kilkenny, Saša Šviković, Pierre Murat, Davide Schiavone, Cara B Eldridge, Alice Bittleston, Joseph D Maman, Dana Branzei, Katherine Stott, Luca Pellegrini & Julian E Sale. (2020) Timeless couples G‐quadruplex detection with processing by DDX 11 helicase during DNA replication . The EMBO Journal 39:18.
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Diana Azenha, Santiago Hernandez-Perez, Yuse Martin, Marta S. Viegas, Alexandra Martins, Maria C. Lopes, Eric W. -F. Lam, Raimundo Freire & Teresa C. Martins. (2020) Implications of CLSPN Variants in Cellular Function and Susceptibility to Cancer. Cancers 12:9, pages 2396.
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Rujuta Yashodhan Gadgil, S. Dean RiderJr.Jr., Todd Lewis, Joanna Barthelemy & Michael Leffak. 2020. Trinucleotide Repeats. Trinucleotide Repeats 121 136 .
Völker, Plum, Gindikin & Breslauer. (2019) Dynamic DNA Energy Landscapes and Substrate Complexity in Triplet Repeat Expansion and DNA Repair. Biomolecules 9:11, pages 709.
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Lionel Gellon, Simran Kaushal, Jorge Cebrián, Mayurika Lahiri, Sergei M Mirkin & Catherine H Freudenreich. (2019) Mrc1 and Tof1 prevent fragility and instability at long CAG repeats by their fork stabilizing function. Nucleic Acids Research 47:2, pages 794-805.
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Artem V. Kononenko, Thomas Ebersole, Karen M. Vasquez & Sergei M. Mirkin. (2018) Mechanisms of genetic instability caused by (CGG)n repeats in an experimental mammalian system. Nature Structural & Molecular Biology 25:8, pages 669-676.
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Ryan J. McGinty & Sergei M. Mirkin. (2018) Cis- and Trans-Modifiers of Repeat Expansions: Blending Model Systems with Human Genetics. Trends in Genetics 34:6, pages 448-465.
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Diana Azenha, Maria Celeste Lopes & Teresa C. Martins. (2017) Claspin functions in cell homeostasis—A link to cancer?. DNA Repair 59, pages 27-33.
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Ryan J. McGinty, Franco Puleo, Anna Y. Aksenova, Julia A. Hisey, Alexander A. Shishkin, Erika L. Pearson, Eric T. Wang, David E. Housman, Claire Moore & Sergei M. Mirkin. (2017) A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA)n Repeats Associated with Friedreich’s Ataxia. Cell Reports 20:10, pages 2490-2500.
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Michael Leffak. (2017) Break-induced replication links microsatellite expansion to complex genome rearrangements. BioEssays 39:8, pages 1700025.
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Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D. Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon & Christopher E. Pearson. (2017) CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. The American Journal of Human Genetics 100:3, pages 488-505.
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Jane C Kim, Samantha T Harris, Teresa Dinter, Kartik A Shah & Sergei M Mirkin. (2016) The role of break-induced replication in large-scale expansions of (CAG)n/(CTG)n repeats. Nature Structural & Molecular Biology 24:1, pages 55-60.
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Ellen L. van Agtmaal, Laurène M. André, Marieke Willemse, Sarah A. Cumming, Ingeborg D.G. van Kessel, Walther J.A.A. van den Broek, Geneviève Gourdon, Denis Furling, Vincent Mouly, Darren G. Monckton, Derick G. Wansink & Bé Wieringa. (2017) CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing. Molecular Therapy 25:1, pages 24-43.
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Nozomi Sugimoto & Masatoshi Fujita. 2017. DNA Replication. DNA Replication 61 78 .
Mariana C. Gadaleta, Alberto González-Medina & Eishi Noguchi. (2016) Timeless protection of telomeres. Current Genetics 62:4, pages 725-730.
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Joanna Barthelemy, Helmut Hanenberg & Michael Leffak. (2016) FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. Nucleic Acids Research 44:14, pages 6803-6816.
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Martina Stevanoni, Elisa Palumbo & Antonella Russo. (2016) The Replication of Frataxin Gene Is Assured by Activation of Dormant Origins in the Presence of a GAA-Repeat Expansion. PLOS Genetics 12:7, pages e1006201.
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Anke E. E. G. Gudde, Anchel González-Barriga, Walther J. A. A. van den Broek, Bé Wieringa & Derick G. Wansink. (2016) A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle. Human Molecular Genetics 25:8, pages 1648-1662.
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Guy-Franck Richard. (2015) Shortening trinucleotide repeats using highly specific endonucleases: a possible approach to gene therapy?. Trends in Genetics 31:4, pages 177-186.
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Jeannine Gerhardt, Mark J. Tomishima, Nikica Zaninovic, Dilek Colak, Zi Yan, Qiansheng Zhan, Zev Rosenwaks, Samie R. Jaffrey & Carl L. Schildkraut. (2014) The DNA Replication Program Is Altered at the FMR1 Locus in Fragile X Embryonic Stem Cells. Molecular Cell 53:1, pages 19-31.
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J. Du, E. Campau, E. Soragni, C. Jespersen & J. M. Gottesfeld. (2013) Length-dependent CTG{middle dot}CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells. Human Molecular Genetics 22:25, pages 5276-5287.
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Xiaomi Chen, Guoqi Liu & Michael Leffak. (2013) Activation of a human chromosomal replication origin by protein tethering. Nucleic Acids Research 41:13, pages 6460-6474.
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Andrei Kuzminov. (2013) Inhibition of DNA synthesis facilitates expansion of low-complexity repeats. BioEssays 35:4, pages 306-313.
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Laura C. Roseaulin, Chiaki Noguchi, Esteban Martinez, Melissa A. Ziegler, Takashi Toda & Eishi Noguchi. (2013) Coordinated Degradation of Replisome Components Ensures Genome Stability upon Replication Stress in the Absence of the Replication Fork Protection Complex. PLoS Genetics 9:1, pages e1003213.
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Guoqi Liu, Sheré Myers, Xiaomi Chen, John J. Bissler, Richard R. Sinden & Michael Leffak. (2012) Replication Fork Stalling and Checkpoint Activation by a PKD1 Locus Mirror Repeat Polypurine-Polypyrimidine (Pu-Py) Tract. Journal of Biological Chemistry 287:40, pages 33412-33423.
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