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

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

Research output: Contribution to journalArticle

1119 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)655-666
Number of pages12
JournalCell
Volume83
Issue number4
DOIs
StatePublished - Nov 17 1995
Externally publishedYes

Fingerprint

RecQ Helicases
Bloom Syndrome
Complementary DNA
Genes
RNA Helicases
DNA Helicases
Genomic Instability
Genetic Association Studies
Genetic Recombination
Maintenance
Genome
Amino Acids
Peptides
Mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Cell Biology
  • Molecular Biology

Cite this

Ellis, N., Groden, J., Ye, T. Z., Straughen, J., Lennon, D. J., Ciocci, S., ... German, J. (1995). The Bloom's syndrome gene product is homologous to RecQ helicases. Cell, 83(4), 655-666. https://doi.org/10.1016/0092-8674(95)90105-1

The Bloom's syndrome gene product is homologous to RecQ helicases. / Ellis, Nathan; Groden, Joanna; Ye, Tian Zhang; Straughen, Joel; Lennon, David J.; Ciocci, Susan; Proytcheva, Maria; German, James.

In: Cell, Vol. 83, No. 4, 17.11.1995, p. 655-666.

Research output: Contribution to journalArticle

Ellis, N, Groden, J, Ye, TZ, Straughen, J, Lennon, DJ, Ciocci, S, Proytcheva, M & German, J 1995, 'The Bloom's syndrome gene product is homologous to RecQ helicases', Cell, vol. 83, no. 4, pp. 655-666. https://doi.org/10.1016/0092-8674(95)90105-1
Ellis N, Groden J, Ye TZ, Straughen J, Lennon DJ, Ciocci S et al. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell. 1995 Nov 17;83(4):655-666. https://doi.org/10.1016/0092-8674(95)90105-1
Ellis, Nathan ; Groden, Joanna ; Ye, Tian Zhang ; Straughen, Joel ; Lennon, David J. ; Ciocci, Susan ; Proytcheva, Maria ; German, James. / The Bloom's syndrome gene product is homologous to RecQ helicases. In: Cell. 1995 ; Vol. 83, No. 4. pp. 655-666.
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