Human homologues of yeast helicase

Bloom's syndrome and Werner's syndrome are two rare human genetic diseases characterized by genomic instability and a predisposition to cancer. The genes responsible for these syndromes have recently been cloned: both encode large proteins similar in size and sequence to each other and to...

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Bibliographic Details
Published in:Nature (London) 1996-10, Vol.383 (6602), p.678-679
Main Authors: Lu, Jian, Mullen, Janet R, Brill, Steven J, Kleff, Susanne, Romeo, Annette M, Sternglanz, Rolf
Format: Article
Language:English
Subjects:
Animals
Bloom Syndrome - enzymology
DNA Helicases - genetics
DNA Helicases - metabolism
Humanities and Social Sciences
Humans
multidisciplinary
Mutagenesis, Site-Directed
Rabbits
Recombinant Proteins - genetics
Recombinant Proteins - metabolism
RecQ Helicases
Saccharomyces cerevisiae
Saccharomyces cerevisiae - enzymology
Saccharomyces cerevisiae - genetics
Saccharomyces cerevisiae Proteins
Science
Science (multidisciplinary)
scientific-correspondence
Werner Syndrome - enzymology
Yeasts
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Summary:Bloom's syndrome and Werner's syndrome are two rare human genetic diseases characterized by genomic instability and a predisposition to cancer. The genes responsible for these syndromes have recently been cloned: both encode large proteins similar in size and sequence to each other and to the yeast Sgs1 protein. All three proteins are closely related in a central domain to a known DNA helicase, the Escherichia coli RecQ protein. Here we demonstrate that yeast Sgs1 protein has DNA helicase activity. Surprisingly, site-directed mutations that eliminate helicase activity can still complement certain yeast sgs1 mutants. These result suggest that Sgs1, and by inference, its human homologues, has an important function not related to its helicase activity. In the case of Werner's syndrome, the sites of the sequenced mutations are consistent with this idea.
ISSN:0028-0836
1476-4687
DOI:10.1038/383678a0