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Cell
Volume 83, Issue 4, 17 November 1995, Pages 655-666
 
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doi:10.1016/0092-8674(95)90105-1    
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Copyright © 1995

Article

The Bloom's syndrome gene product is homologous to RecQ helicases

Nathan A. Ellis *, , Joanna Groden , , Tian-Zhang Ye *, Joel Straughen , David J. Lennon *, Susan Ciocci *, Maria Proytcheva * and James German *

Laboratory of Human Genetics New York Blood Center, New York, New York 10021, USA

* Department of Molecular Genetics Biochemistry and Microbiology University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA


Received 12 October 1995; 
Revised 26 October 1995. 
Available online 14 April 2004.

Abstract

The Bloom's syndrome (BS) gene, BLM, plays an important role in the maintenance of genomic stability in somatic cells. A candidate for BLM was identified by direct selection of a cDNA derived from a 250 kb segment of the genome to which BLM had been assigned by somatic crossover point mapping. In this novel mapping method, cells were used from persons with BS that had undergone intragenic recombination within BLM. cDNA analysis of the candidate gene identified a 4437 by cDNA that encodes a 1417 amino acid peptide with homology to the RecQ helicases, a sub-family of DExH box-containing DNA and RNA helicases. The presence of chain-terminating mutations in the candidate gene in persons with BS proved that it was BLM.

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