Literature DB >> 23725800

The balancing act of DNA repeat expansions.

Jane C Kim1, Sergei M Mirkin.   

Abstract

Expansions of microsatellite DNA repeats contribute to the inheritance of nearly 30 developmental and neurological disorders. Significant progress has been made in elucidating the molecular mechanisms of repeat expansions using various model organisms and mammalian cell culture, and models implicating nearly all DNA transactions such as replication, repair, recombination, and transcription have been proposed. It is likely that different models of repeat expansions are not mutually exclusive and may explain repeat instability for different developmental stages and tissues. This review focuses on the contributions from studies in budding yeast toward unraveling the mechanisms and genetic control of repeat expansions, highlighting similarities and differences of replication models and describing a balancing act hypothesis to account for apparent discrepancies.
Copyright © 2013 Elsevier Ltd. All rights reserved.

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Year:  2013        PMID: 23725800      PMCID: PMC3703482          DOI: 10.1016/j.gde.2013.04.009

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  56 in total

Review 1.  Fragile sites still breaking.

Authors:  G R Sutherland; E Baker; R I Richards
Journal:  Trends Genet       Date:  1998-12       Impact factor: 11.639

2.  Repeat expansion--all in a flap?

Authors:  D A Gordenin; T A Kunkel; M A Resnick
Journal:  Nat Genet       Date:  1997-06       Impact factor: 38.330

3.  Analysis of strand slippage in DNA polymerase expansions of CAG/CTG triplet repeats associated with neurodegenerative disease.

Authors:  J Petruska; M J Hartenstine; M F Goodman
Journal:  J Biol Chem       Date:  1998-02-27       Impact factor: 5.157

4.  Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation.

Authors:  J K Schweitzer; D M Livingston
Journal:  Hum Mol Genet       Date:  1998-01       Impact factor: 6.150

5.  Expansion and length-dependent fragility of CTG repeats in yeast.

Authors:  C H Freudenreich; S M Kantrow; V A Zakian
Journal:  Science       Date:  1998-02-06       Impact factor: 47.728

6.  The trinucleotide repeat sequence d(CGG)15 forms a heat-stable hairpin containing Gsyn. Ganti base pairs.

Authors:  M Mitas; A Yu; J Dill; I S Haworth
Journal:  Biochemistry       Date:  1995-10-03       Impact factor: 3.162

7.  Role of yeast Rth1 nuclease and its homologs in mutation avoidance, DNA repair, and DNA replication.

Authors:  R E Johnson; G K Kovvali; L Prakash; S Prakash
Journal:  Curr Genet       Date:  1998-07       Impact factor: 3.886

8.  Orientation-dependent and sequence-specific expansions of CTG/CAG trinucleotide repeats in Saccharomyces cerevisiae.

Authors:  J J Miret; L Pessoa-Brandão; R S Lahue
Journal:  Proc Natl Acad Sci U S A       Date:  1998-10-13       Impact factor: 11.205

9.  Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli.

Authors:  S Kang; A Jaworski; K Ohshima; R D Wells
Journal:  Nat Genet       Date:  1995-06       Impact factor: 38.330

10.  GAA instability in Friedreich's Ataxia shares a common, DNA-directed and intraallelic mechanism with other trinucleotide diseases.

Authors:  A M Gacy; G M Goellner; C Spiro; X Chen; G Gupta; E M Bradbury; R B Dyer; M J Mikesell; J Z Yao; A J Johnson; A Richter; S B Melançon; C T McMurray
Journal:  Mol Cell       Date:  1998-03       Impact factor: 17.970

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  56 in total

Review 1.  DNA replication stress: from molecular mechanisms to human disease.

Authors:  Sergio Muñoz; Juan Méndez
Journal:  Chromosoma       Date:  2016-01-21       Impact factor: 4.316

Review 2.  The role of fork stalling and DNA structures in causing chromosome fragility.

Authors:  Simran Kaushal; Catherine H Freudenreich
Journal:  Genes Chromosomes Cancer       Date:  2019-01-29       Impact factor: 5.006

3.  Structure and Dynamics of DNA and RNA Double Helices of CAG and GAC Trinucleotide Repeats.

Authors:  Feng Pan; Viet Hoang Man; Christopher Roland; Celeste Sagui
Journal:  Biophys J       Date:  2017-07-11       Impact factor: 4.033

Review 4.  The Repeat Expansion Diseases: The dark side of DNA repair.

Authors:  Xiao-Nan Zhao; Karen Usdin
Journal:  DNA Repair (Amst)       Date:  2015-04-30

Review 5.  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

6.  Development of novel macrocyclic small molecules that target CTG trinucleotide repeats.

Authors:  Julio F Serrano; JuYeon Lee; L Daniel Curet; Lauren D Hagler; Sarah E Bonson; Emma J Schuster; Steven C Zimmerman
Journal:  Bioorg Med Chem       Date:  2019-05-14       Impact factor: 3.641

Review 7.  To switch or not to switch: at the origin of repeat expansion disease.

Authors:  Ekaterina V Mirkin; Sergei M Mirkin
Journal:  Mol Cell       Date:  2014-01-09       Impact factor: 17.970

8.  Atypical structures of GAA/TTC trinucleotide repeats underlying Friedreich's ataxia: DNA triplexes and RNA/DNA hybrids.

Authors:  Jiahui Zhang; Ashkan Fakharzadeh; Feng Pan; Christopher Roland; Celeste Sagui
Journal:  Nucleic Acids Res       Date:  2020-09-25       Impact factor: 16.971

Review 9.  Precarious maintenance of simple DNA repeats in eukaryotes.

Authors:  Alexander J Neil; Jane C Kim; Sergei M Mirkin
Journal:  Bioessays       Date:  2017-07-13       Impact factor: 4.345

Review 10.  Causes and consequences of replication stress.

Authors:  Michelle K Zeman; Karlene A Cimprich
Journal:  Nat Cell Biol       Date:  2014-01       Impact factor: 28.824

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