| | |  | | | | Record from Web of Science® | | | | | | |
| THE BLOOMS-SYNDROME GENE-PRODUCT IS HOMOLOGOUS TO RECQ HELICASES |
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| Author(s): ELLIS NA, GRODEN J, YE TZ, STRAUGHEN J, LENNON DJ, CIOCCI S, PROYTCHEVA M, GERMAN J |
| Source: CELL Volume: 83 Issue: 4 Pages: 655-666 Published: NOV 17 1995 |
| Times Cited: 798 References: 61 |
| 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 bp cDNA that encodes a 1417 amino acid peptide with homology to the RecQ helicases, a subfamily 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: ELLIS, NA (reprint author), NEW YORK BLOOD CTR, HUMAN GENET LAB, NEW YORK, NY 10021 USA |
Addresses:
1. UNIV CINCINNATI, COLL MED, DEPT MOLEC GENET BIOCHEM & MICROBIOL, CINCINNATI, OH 45267 USA |
| Publisher: CELL PRESS, 50 CHURCH ST CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: TF248 |
| ISSN: 0092-8674 |
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