Bloom's syndrome workshop focuses on the functional specificities of RecQ helicases

Nathan A. Ellis, Miriam Sander, Curtis C. Harris, Vilhelm A. Bohr

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Human cells express five DNA helicases that are paralogs of Escherichia coli RecQ and which constitute the family of human RecQ helicases. Disease-causing mutations in three of these five human DNA helicases, BLM, WRN, and RECQL4, cause rare severe human genetic diseases with distinct clinical phenotypes characterized by developmental defects, skin abnormalities, genomic instability, and cancer susceptibility. Although biochemical and genetic evidence support roles for all five human RecQ helicases in DNA replication, DNA recombination, and the biological responses to DNA damage, many questions concerning the various functions of the human RecQ helicases remain unanswered. Researchers investigating human and non-human RecQ helicases held a workshop on May 27-28, 2008, at the University of Chicago Gleacher Center, during which they shared insights, discussed recent progress in understanding the biochemistry, biology, and genetics of the RecQ helicases, and developed research strategies that might lead to therapeutic approaches to the human diseases that result from mutations in RecQ helicase genes. Some workshop sessions were held jointly with members of a recently formed advocacy and support group for persons with Bloom's syndrome and their families. This report describes the outcomes and main discussion points of the workshop.

Original languageEnglish (US)
Pages (from-to)681-691
Number of pages11
JournalMechanisms of Ageing and Development
Volume129
Issue number11
DOIs
StatePublished - Nov 1 2008
Externally publishedYes

Keywords

  • Aging
  • Cancer
  • Crossing over
  • DNA replication
  • Genomic instability
  • Holliday junction resolution
  • Homologous recombination

ASJC Scopus subject areas

  • Aging
  • Developmental Biology

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