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Titre du document / Document title

The Werner syndrome gene : the molecular basis of RecQ helicase-deficiency diseases

Auteur(s) / Author(s)

SHEN J.-C. (1) ; LOEB L. A. (1) ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

(1) Department of Pathology, University of Washington, Seattle, Washington 98195-7705, ETATS-UNIS

Résumé / Abstract

Werner syndrome (WS) is an autosomal recessive genetic disorder that is manifested by genetic instability and premature onset of age-related diseases, including atherosclerosis and cancer. The gene that is mutated in WS cells (WRN) has been identified recently. Characterizations of the WRN gene product indicate that WRN encodes both a 3'→5' DNA helicase, belonging to the Escherichia coli RecQ helicase family, and a 3'→5' DNA exonuclease. Studies to define the molecular mechanism of WRN-DNA transactions are currently underway in many laboratories. Preliminary results indicate that WRN functions as a key factor in resolving aberrant DNA structures that arise from DNA metabolic processes such as replication, recombination and/or repair, to preserve the genetic integrity in cells.

Revue / Journal Title

Trends in genetics    ISSN  0168-9525 

Source / Source

2000, vol. 16, no5, pp. 213-220 (73 ref.)

Langue / Language

Anglais

Editeur / Publisher

Elsevier, Amsterdam, PAYS-BAS  (1985) (Revue)

Mots-clés anglais / English Keywords

Review

;

Human

;

Mutation

;

Gene

;

DNA

;

Molecular structure

;

Cell function

;

Repair

;

Gene expression

;

Recombination

;

Replication

;

Werner syndrome

;

Skin disease

;

Genetic disease

;

Eye disease

;

Hydrolases

;

Enzyme

;

Mots-clés français / French Keywords

Article synthèse

;

Homme

;

Mutation

;

Gène

;

DNA

;

Structure moléculaire

;

Fonction cellulaire

;

Réparation

;

Expression génique

;

Recombinaison

;

Réplication

;

Werner syndrome

;

DNA helicase

;

Peau pathologie

;

Maladie héréditaire

;

Oeil pathologie

;

Hydrolases

;

Enzyme

;

Mots-clés espagnols / Spanish Keywords

Artículo síntesis

;

Hombre

;

Mutación

;

Gen

;

DNA

;

Estructura molecular

;

Función celular

;

Reparación

;

Expresión genética

;

Recombinación

;

Replicación

;

Werner síndrome

;

Piel patología

;

Enfermedad hereditaria

;

Ojo patología

;

Hydrolases

;

Enzima

;

Localisation / Location

INIST-CNRS, Cote INIST : 20873 B, 35400008760911.0040

Nº notice refdoc (ud4) : 1348733



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