publication . Article . Other literature type . 1995

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

Ellis, Nathan A.; Groden, Joanna; Ye, Tian-Zhang; Straughen, Joel; Lennon, David J.; Ciocci, Susan; Proytcheva, Maria; German, James;
Open Access English
  • Published: 01 Nov 1995 Journal: Cell, issue 4, pages 655-666 (issn: 00928674, Copyright policy)
Abstract
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 ...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseasesurogenital system
free text keywords: Biochemistry, Genetics and Molecular Biology(all), General Biochemistry, Genetics and Molecular Biology, Candidate gene, Biology, Gene, Bloom syndrome, medicine.disease, medicine, Bloom syndrome protein, RecQ helicase, Molecular biology, Complementary DNA, Sgs1, Topoisomerase III, Genetics
Related research
Abstract
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 ...
Subjects
Medical Subject Headings: congenital, hereditary, and neonatal diseases and abnormalitiesnutritional and metabolic diseasesurogenital system
free text keywords: Biochemistry, Genetics and Molecular Biology(all), General Biochemistry, Genetics and Molecular Biology, Candidate gene, Biology, Gene, Bloom syndrome, medicine.disease, medicine, Bloom syndrome protein, RecQ helicase, Molecular biology, Complementary DNA, Sgs1, Topoisomerase III, Genetics
Related research
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