The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells Journal Article
| Authors: | Neff, N. F.; Ellis, N. A.; Ye, T. Z.; Noonan, J.; Huang, K.; Sanz, M.; Proytcheva, M. |
| Article Title: | The DNA helicase activity of BLM is necessary for the correction of the genomic instability of Bloom syndrome cells |
| Abstract: | Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is localized in nuclear foci and absent from BS cells. BLM encodes a DNA helicase, and proteins from three missense alleles lack displacement activity. BLM transfected into BS cells reduces the frequency of sister chromatid exchanges and restores BLM in the nucleus. Missense alleles fail to reduce the sister chromatid exchanges in transfected BS cells or restore the normal nuclear pattern. BLM complements a phenotype of a Saccharomyces cerevisiae sgs1 top3 strain, and the missense alleles do not. This work demonstrates the importance of the enzymatic activity of BLM for its function and nuclear localization pattern. |
| Keywords: | controlled study; protein expression; child, preschool; unclassified drug; gene mutation; mutation; nonhuman; phenotype; enzyme activity; gene expression regulation; dna; saccharomyces cerevisiae; recombinant proteins; cellular distribution; genetic stability; helicase; saccharomyces cerevisiae proteins; adenosine triphosphatases; enzyme localization; dna helicases; dna, complementary; genetic complementation test; bloom syndrome; protein blm; humans; male; female; priority journal; article |
| Journal Title: | Molecular Biology of the Cell |
| Volume: | 10 |
| Issue: | 3 |
| ISSN: | 1059-1524 |
| Publisher: | The American Society for Cell Biology |
| Date Published: | 1999-03-01 |
| Start Page: | 665 |
| End Page: | 676 |
| Language: | English |
| PUBMED: | 10069810 |
| PROVIDER: | scopus |
| PMCID: | PMC25194 |
| DOI: | 10.1091/mbc.10.3.665 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 16 August 2016 -- Source: Scopus |
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