Nuclear structure in normal and Bloom syndrome cells

Victor Yankiwski, Robert A. Marciniak, Leonard Guarente, Norma F. Neff

Research output: Contribution to journalArticlepeer-review

156 Scopus citations

Abstract

Bloom syndrome (BS) is a rare cancer-predisposing disorder in which the cells of affected persons have a high frequency of somatic mutation and genomic instability. BLM, the protein altered in BS, is a RecQ DNA helicase. This report shows that BLM is found in the nucleus of normal human cells in the nuclear domain 10 or promyelocytic leukemia nuclear bodies. These structures are punctate depots of proteins disrupted upon vital infection and in certain human malignancies. BLM is found primarily in nuclear domain 10 except during S phase when it colocalizes with the Werner syndrome gene product, WRN, in the nucleolus. BLM colocalizes with a select subset of telomeres in normal cells and with large telomeric clusters seen in simian virus 40-transformed normal fibroblasts. During S phase, BS cells expel micronuclei containing sites of DNA synthesis, BLM is likely to be part of a DNA surveillance mechanism operating during S phase.

Original languageEnglish (US)
Pages (from-to)5214-5219
Number of pages6
JournalProceedings of the National Academy of Sciences of the United States of America
Volume97
Issue number10
DOIs
StatePublished - May 9 2000

Keywords

  • Nuclear domain 10
  • Nucleolus
  • Promyelocytic leukemia body
  • RecQ DNA helicase
  • Telomere

ASJC Scopus subject areas

  • General

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