Literature DB >> 9397685

Dynamic mutation: possible mechanisms and significance in human disease.

R I Richards1, G R Sutherland.   

Abstract

Increases in repeat-DNA copy number are the molecular basis of a growing list of human genetic diseases, including fragile X syndrome, myotonic dystrophy, Huntington disease and a form of epilepsy. Repeat-DNA sequences undergo a unique process of dynamic mutation, the common properties of which probably reflect common molecular events. This form of mutation is no longer restricted to trinucleotide repeats, because repeats of different length have been found to undergo expansion.

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Year:  1997        PMID: 9397685     DOI: 10.1016/s0968-0004(97)01108-0

Source DB:  PubMed          Journal:  Trends Biochem Sci        ISSN: 0968-0004            Impact factor:   13.807


  27 in total

1.  The roles of mutS, sbcCD and recA in the propagation of TGG repeats in Escherichia coli.

Authors:  X Pan; D R Leach
Journal:  Nucleic Acids Res       Date:  2000-08-15       Impact factor: 16.971

2.  FMR1 haplotype analyses among Indians: a weak founder effect and other findings.

Authors:  Deepti Sharma; Meena Gupta; B K Thelma
Journal:  Hum Genet       Date:  2002-12-14       Impact factor: 4.132

Review 3.  Structures of trinucleotide repeats in human transcripts and their functional implications.

Authors:  Anna Jasinska; Gracjan Michlewski; Mateusz de Mezer; Krzysztof Sobczak; Piotr Kozlowski; Marek Napierala; Wlodzimierz J Krzyzosiak
Journal:  Nucleic Acids Res       Date:  2003-10-01       Impact factor: 16.971

Review 4.  DNA secondary structure: a common and causative factor for expansion in human disease.

Authors:  C T McMurray
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

5.  Role of everlasting triplet expansions in protein evolution.

Authors:  Zohar Koren; Edward N Trifonov
Journal:  J Mol Evol       Date:  2010-12-16       Impact factor: 2.395

Review 6.  Comparative genomics and molecular dynamics of DNA repeats in eukaryotes.

Authors:  Guy-Franck Richard; Alix Kerrest; Bernard Dujon
Journal:  Microbiol Mol Biol Rev       Date:  2008-12       Impact factor: 11.056

7.  Modelling studies on neurodegenerative disease-causing triplet repeat sequences d(GGC/GCC)n and d(CAG/CTG)n.

Authors:  S Chowdhury; M Bansal
Journal:  J Biosci       Date:  2001-12       Impact factor: 1.826

8.  Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q.

Authors:  A Tunnacliffe; C Jones; D Le Paslier; R Todd; D Cherif; M Birdsall; L Devenish; C Yousry; F E Cotter; M R James
Journal:  Genome Res       Date:  1999-01       Impact factor: 9.043

9.  Triplet repeats form secondary structures that escape DNA repair in yeast.

Authors:  H Moore; P W Greenwell; C P Liu; N Arnheim; T D Petes
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-16       Impact factor: 11.205

10.  DNA dinucleotide evolution in humans: fitting theory to facts.

Authors:  A Renwick; L Davison; H Spratt; J P King; M Kimmel
Journal:  Genetics       Date:  2001-10       Impact factor: 4.562

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