Literature DB >> 9259953

Intriguing association between disease associated unstable trinucleotide repeat and CpG island.

G Gourdon1, P Dessen, A S Lia, C Junien, H Hofmann-Radvanyi.   

Abstract

Expansion of (C+G)-rich trinucleotide repeats has been shown to be associated with several autosomal or X-linked genetic diseases and/or fragile sites. By analysing the sequences available in the databases, we found, in a significant proportion of triplet associated genes or fragile sites (11/12), a CpG island close to the trinucleotide repeat. This association led us to assume that flanking regions and chromatin structure near the triplets might play a role in repeat instability.

Entities:  

Mesh:

Year:  1997        PMID: 9259953

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  9 in total

1.  CpG methylation modifies the genetic stability of cloned repeat sequences.

Authors:  Kerrie Nichol; Christopher E Pearson
Journal:  Genome Res       Date:  2002-08       Impact factor: 9.043

2.  Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.

Authors:  Arturo López Castel; Masayuki Nakamori; Stephanie Tomé; David Chitayat; Geneviève Gourdon; Charles A Thornton; Christopher E Pearson
Journal:  Hum Mol Genet       Date:  2010-11-01       Impact factor: 6.150

Review 3.  Modifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.

Authors:  Vanessa C Wheeler; Vincent Dion
Journal:  J Huntingtons Dis       Date:  2021

4.  Expanded CAG/CTG repeats resist gene silencing mediated by targeted epigenome editing.

Authors:  Bin Yang; Alicia C Borgeaud; Marcela Buřičová; Lorène Aeschbach; Oscar Rodríguez-Lima; Gustavo A Ruiz Buendía; Cinzia Cinesi; Alysha S Taylor; Tuncay Baubec; Vincent Dion
Journal:  Hum Mol Genet       Date:  2022-02-03       Impact factor: 6.150

5.  CTG repeat instability and size variation timing in DNA repair-deficient mice.

Authors:  Cédric Savouret; Edith Brisson; Jeroen Essers; Roland Kanaar; Albert Pastink; Hein te Riele; Claudine Junien; Geneviève Gourdon
Journal:  EMBO J       Date:  2003-05-01       Impact factor: 11.598

6.  MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice.

Authors:  Cédric Savouret; Corinne Garcia-Cordier; Jérôme Megret; Hein te Riele; Claudine Junien; Geneviève Gourdon
Journal:  Mol Cell Biol       Date:  2004-01       Impact factor: 4.272

Review 7.  Microsatellite repeat instability and neurological disease.

Authors:  Judith R Brouwer; Rob Willemsen; Ben A Oostra
Journal:  Bioessays       Date:  2009-01       Impact factor: 4.345

8.  Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline.

Authors:  Vincent Dion; Yunfu Lin; Leroy Hubert; Robert A Waterland; John H Wilson
Journal:  Hum Mol Genet       Date:  2008-02-05       Impact factor: 6.150

9.  CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Authors:  Randell T Libby; Katharine A Hagerman; Victor V Pineda; Rachel Lau; Diane H Cho; Sandy L Baccam; Michelle M Axford; John D Cleary; James M Moore; Bryce L Sopher; Stephen J Tapscott; Galina N Filippova; Christopher E Pearson; Albert R La Spada
Journal:  PLoS Genet       Date:  2008-11-14       Impact factor: 5.917

  9 in total

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