Literature DB >> 24411078

To switch or not to switch: at the origin of repeat expansion disease.

Ekaterina V Mirkin1, Sergei M Mirkin2.   

Abstract

Expansions of DNA repeats cause hereditary disorders in humans. Gerhardt et al. (2014) argue that a developmental switch in the direction of DNA replication through the (CGG)n repeat predisposes it to expansions during intergenerational transmissions leading to fragile X syndrome.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 24411078      PMCID： PMC3940269          DOI： 10.1016/j.molcel.2013.12.021

Source DB:  PubMed          Journal:  Mol Cell        ISSN： 1097-2765            Impact factor:   17.970


  10 in total

1.  Positioned to expand.

Authors:  Sergei M Mirkin; Ekaterina V Smirnova
Journal:  Nat Genet       Date:  2002-05       Impact factor: 38.330

2.  Evidence of cis-acting factors in replication-mediated trinucleotide repeat instability in primate cells.

Authors:  John D Cleary; Kerrie Nichol; Yuh-Hwa Wang; Christopher E Pearson
Journal:  Nat Genet       Date:  2002-04-22       Impact factor: 38.330

3.  Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.

Authors:  Taurai Nenguke; Mirit I Aladjem; James F Gusella; Nancy S Wexler; Norman Arnheim
Journal:  Hum Mol Genet       Date:  2003-05-01       Impact factor: 6.150

4.  Association of fragile X syndrome with delayed replication of the FMR1 gene.

Authors:  R S Hansen; T K Canfield; M M Lamb; S M Gartler; C D Laird
Journal:  Cell       Date:  1993-07-02       Impact factor: 41.582

5.  Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.

Authors:  John D Cleary; Stéphanie Tomé; Arturo López Castel; Gagan B Panigrahi; Laurent Foiry; Katharine A Hagerman; Hana Sroka; David Chitayat; Geneviève Gourdon; Christopher E Pearson
Journal:  Nat Struct Mol Biol       Date:  2010-08-15       Impact factor: 15.369

6.  The DNA replication program is altered at the FMR1 locus in fragile X embryonic stem cells.

Authors:  Jeannine Gerhardt; Mark J Tomishima; Nikica Zaninovic; Dilek Colak; Zi Yan; Qiansheng Zhan; Zev Rosenwaks; Samie R Jaffrey; Carl L Schildkraut
Journal:  Mol Cell       Date:  2013-11-27       Impact factor: 17.970

7.  Replication-dependent instability at (CTG) x (CAG) repeat hairpins in human cells.

Authors:  Guoqi Liu; Xiaomi Chen; John J Bissler; Richard R Sinden; Michael Leffak
Journal:  Nat Chem Biol       Date:  2010-08-01       Impact factor: 15.040

8.  Replisome stalling and stabilization at CGG repeats, which are responsible for chromosomal fragility.

Authors:  Irina Voineagu; Christine F Surka; Alexander A Shishkin; Maria M Krasilnikova; Sergei M Mirkin
Journal:  Nat Struct Mol Biol       Date:  2009-01-11       Impact factor: 15.369

Review 9.  The balancing act of DNA repeat expansions.

Authors:  Jane C Kim; Sergei M Mirkin
Journal:  Curr Opin Genet Dev       Date:  2013-05-29       Impact factor: 5.578

10.  The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.

Authors:  Rachel Adihe Lokanga; Xiao-Nan Zhao; Karen Usdin
Journal:  Hum Mutat       Date:  2014-01       Impact factor: 4.878
  10 in total
  17 in total

1.  Molecular mechanism of resolving trinucleotide repeat hairpin by helicases.

Authors:  Yupeng Qiu; Hengyao Niu; Lela Vukovic; Patrick Sung; Sua Myong
Journal:  Structure       Date:  2015-05-21       Impact factor: 5.006

Review 2.  Repeat instability during DNA repair: Insights from model systems.

Authors:  Karen Usdin; Nealia C M House; Catherine H Freudenreich
Journal:  Crit Rev Biochem Mol Biol       Date:  2015-01-22       Impact factor: 8.250

Review 3.  G4-associated human diseases.

Authors:  Nancy Maizels
Journal:  EMBO Rep       Date:  2015-07-06       Impact factor: 8.807

Review 4.  RNAi screening comes of age: improved techniques and complementary approaches.

Authors:  Stephanie E Mohr; Jennifer A Smith; Caroline E Shamu; Ralph A Neumüller; Norbert Perrimon
Journal:  Nat Rev Mol Cell Biol       Date:  2014-09       Impact factor: 94.444

5.  Topological impact of noncanonical DNA structures on Klenow fragment of DNA polymerase.

Authors:  Shuntaro Takahashi; John A Brazier; Naoki Sugimoto
Journal:  Proc Natl Acad Sci U S A       Date:  2017-08-21       Impact factor: 11.205

Review 6.  Close encounters: Moving along bumps, breaks, and bubbles on expanded trinucleotide tracts.

Authors:  Aris A Polyzos; Cynthia T McMurray
Journal:  DNA Repair (Amst)       Date:  2017-06-09

7.  Cell line differences in replication timing of human glutamate receptor genes and other large genes associated with neural disease.

Authors:  Yoshihisa Watanabe; Kiyoshi Shibata; Masato Maekawa
Journal:  Epigenetics       Date:  2014-10       Impact factor: 4.528

Review 8.  Amazing Diversity in Biochemical Roles of Fe(II)/2-Oxoglutarate Oxygenases.

Authors:  Caitlyn Q Herr; Robert P Hausinger
Journal:  Trends Biochem Sci       Date:  2018-04-27       Impact factor: 13.807

9.  Replication stress at microsatellites causes DNA double-strand breaks and break-induced replication.

Authors:  Rujuta Yashodhan Gadgil; Eric J Romer; Caitlin C Goodman; S Dean Rider; French J Damewood; Joanna R Barthelemy; Kazuo Shin-Ya; Helmut Hanenberg; Michael Leffak
Journal:  J Biol Chem       Date:  2020-09-01       Impact factor: 5.157

Review 10.  Trinucleotide expansion in disease: why is there a length threshold?

Authors:  Do-Yup Lee; Cynthia T McMurray
Journal:  Curr Opin Genet Dev       Date:  2014-10-01       Impact factor: 5.578
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