@article{3c28a63f83ad4548bf11c554cf5b82cb,
title = "The Bloom's syndrome gene product is homologous to RecQ helicases",
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.",
author = "Ellis, {Nathan A.} and Joanna Groden and Ye, {Tian Zhang} and Joel Straughen and Lennon, {David J.} and Susan Ciocci and Maria Proytcheva and James German",
note = "Funding Information: We are grateful to Manuel Buchwald, University of Toronto, for providing the lymphoblastoid cDNA library in pREP4; Dorothy Warburton, Columbia University, for providing the GS69K-1 cell line; and Larry Gelbert, Bristol Myers Squibb, for help in searching the expressed sequence database. We thank Norma Neff and James Ray for critical reading of the manuscript and Mary Claire King for valuable discussion and encouragement. This work was supported by the Lucille P. Markey Charitable Trust (J. Groden), the Center for Environmental Genetics at the University of Cincinnati grant ES-06096 (J. Groden), and the National Foundation for Jewish Genetic Disease (J. German), the New York Blood Center, and National Institutes of Health grants HD-04134, CA-50697, and GM-47890.",
year = "1995",
month = nov,
day = "17",
doi = "10.1016/0092-8674(95)90105-1",
language = "English (US)",
volume = "83",
pages = "655--666",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "4",
}