The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells

Norma F. Neff, Nathan A. Ellis, Ye Tian Zhang, James Noonan, Kelly Huang, Maureen Sanz, Maria Proytcheva

Research output: Contribution to journalArticle

117 Scopus citations

Abstract

Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of a Saccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern.

Original languageEnglish (US)
Pages (from-to)665-676
Number of pages12
JournalMolecular biology of the cell
Volume10
Issue number3
DOIs
StatePublished - Mar 1999
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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