Literature DB >> 9469848

Large CAG/CTG repeat templates produced by PCR, usefulness for the DIRECT method of cloning genes with CAG/CTG repeat expansions.

M A Pujana1, V Volpini, X Estivill.   

Abstract

We report here a simple method for generating large CAG/CTG repeat sequences. We have applied this method to clone the genomic sequence containing the CAG/CTG repeat and its upstream intronic sequence present in spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) by a modified DIRECT method. With these modifications we have considerably simplified the generation of the repeat probe used to screen for anomalous bands. This method will facilitate the molecular approach to other genetic disorders where expansions of repeat sequences could be involved.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9469848      PMCID： PMC147394          DOI： 10.1093/nar/26.5.1352

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


  19 in total

1.  Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.

Authors:  A R La Spada; E M Wilson; D B Lubahn; A E Harding; K H Fischbeck
Journal:  Nature       Date:  1991-07-04       Impact factor: 49.962

2.  Anticipation legitimized: unstable DNA to the rescue.

Authors:  G R Sutherland; R I Richards
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

3.  Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Authors:  A J Verkerk; M Pieretti; J S Sutcliffe; Y H Fu; D P Kuhl; A Pizzuti; O Reiner; S Richards; M F Victoria; F P Zhang
Journal:  Cell       Date:  1991-05-31       Impact factor: 41.582

4.  Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

Authors:  G David; N Abbas; G Stevanin; A Dürr; G Yvert; G Cancel; C Weber; G Imbert; F Saudou; E Antoniou; H Drabkin; R Gemmill; P Giunti; A Benomar; N Wood; M Ruberg; Y Agid; J L Mandel; A Brice
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

5.  CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.

Authors:  Y Kawaguchi; T Okamoto; M Taniwaki; M Aizawa; M Inoue; S Katayama; H Kawakami; S Nakamura; M Nishimura; I Akiguchi
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330

6.  Identification and characterization of the gene causing type 1 spinocerebellar ataxia.

Authors:  S Banfi; A Servadio; M Y Chung; T J Kwiatkowski; A E McCall; L A Duvick; Y Shen; E J Roth; H T Orr; H Y Zoghbi
Journal:  Nat Genet       Date:  1994-08       Impact factor: 38.330

7.  Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

Authors:  R Koide; T Ikeuchi; O Onodera; H Tanaka; S Igarashi; K Endo; H Takahashi; R Kondo; A Ishikawa; T Hayashi
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

8.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors:  S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

9.  Direct detection of expanded (CAG/CTG) repeats in the myotonin-protein kinase genes of myotonic dystrophy patients using a high-stringency hybridization method.

Authors:  K Sanpei; S Igarashi; I Eguchi; Y Takiyama; H Tanaka; S Tsuji
Journal:  Biochem Biophys Res Commun       Date:  1995-07-17       Impact factor: 3.575

10.  Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Authors:  V Campuzano; L Montermini; M D Moltò; L Pianese; M Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; A Monticelli; F Zara; J Cañizares; H Koutnikova; S I Bidichandani; C Gellera; A Brice; P Trouillas; G De Michele; A Filla; R De Frutos; F Palau; P I Patel; S Di Donato; J L Mandel; S Cocozza; M Koenig; M Pandolfo
Journal:  Science       Date:  1996-03-08       Impact factor: 47.728
View more
  3 in total

1.  Physio-pathological roles of transglutaminase-catalyzed reactions.

Authors:  Mariangela Ricotta; Maura Iannuzzi; Giulia De Vivo; Vittorio Gentile
Journal:  World J Biol Chem       Date:  2010-05-26

2.  Possible role of the transglutaminases in the pathogenesis of Alzheimer's disease and other neurodegenerative diseases.

Authors:  Antonio Martin; Giulia De Vivo; Vittorio Gentile
Journal:  Int J Alzheimers Dis       Date:  2011-02-16

3.  In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats.

Authors:  Grzegorz Figura; Edyta Koscianska; Wlodzimierz J Krzyzosiak
Journal:  Int J Mol Sci       Date:  2015-08-11       Impact factor: 5.923
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.