THE BLOOMS-SYNDROME GENE-PRODUCT IS HOMOLOGOUS TO RECQ HELICASES

被引：1196

作者：

ELLIS, NA ^{[1
]}

GRODEN, J ^{[1
]}

YE, TZ ^{[1
]}

STRAUGHEN, J ^{[1
]}

LENNON, DJ ^{[1
]}

CIOCCI, S ^{[1
]}

PROYTCHEVA, M ^{[1
]}

GERMAN, J ^{[1
]}

机构：

[1] UNIV CINCINNATI, COLL MED, DEPT MOLEC GENET BIOCHEM & MICROBIOL, CINCINNATI, OH 45267 USA

来源：

CELL | 1995年 / 83卷 / 04期

关键词：

D O I：

10.1016/0092-8674(95)90105-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：655 / 666

页数：12

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