Werner syndrome: entering the helicase era.
Werner syndrome is a rare autosomal recessive disorder that mimics some of the characteristics of aging. The gene for this disorder has recently been identified as a helicase of the recQ subclass. Other phenotypically distinctive disorders caused by different helicase mutations include Bloom syndrome, Cockayne syndrome, xeroderma pigmentosum and trichothiodystrophy. Possible mechanisms by which helicases might produce the variable phenotypes are discussed. These include altered nucleotide excision repair and RNA polymerase II-mediated transcription. The discovery of the helicase defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process.
Epstein
C J
CJ
Department of Pediatrics, University of California, San Francisco 94143-0748, USA. cepst@itsa.ucsf.edu
Motulsky
A G
AG
D000251:Adenosine Triphosphatases / Q000235:genetics*; D001816:Bloom Syndrome / Q000235:genetics; D003057:Cockayne Syndrome / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004260:DNA Repair; D005090:Exodeoxyribonucleases; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D053484:RecQ Helicases; D014158:Transcription, Genetic; D014898:Werner Syndrome / Q000235:genetics* / Q000503:physiopathology; D000071657:Werner Syndrome Helicase
D005090:Exodeoxyribonucleases; D000251:Adenosine Triphosphatases; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase