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 viral 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.
journal_name
Proc Natl Acad Sci U S Aauthors
Yankiwski V,Marciniak RA,Guarente L,Neff NFdoi
10.1073/pnas.090525897keywords:
subject
Has Abstractpub_date
2000-05-09 00:00:00pages
5214-9issue
10eissn
0027-8424issn
1091-6490pii
090525897journal_volume
97pub_type
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