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Vol. 10, Issue 3, 665-676, March 1999
*Laboratory of Human Genetics, New York Blood Center, New York, New
York 10021; 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.
Department of Human Genetics, Memorial
Sloan-Kettering Cancer Center, New York, New York 10021;
§Department of Microbiology, Cornell University Medical
College, New York, New York 10021; and Department of
Pathology, Albert Einstein College of Medicine, Bronx, New York 10461
Corresponding author. E-mail address:
nneff{at}nybc.org.
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