ArticleAmerican journal of human genetics1999
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 49 citations in OpenAlex.
- Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.Frontiers in oncology · 2022Review
- The BLM helicase is a new therapeutic target in multiple myeloma involved in replication stress survival and drug resistance.Frontiers in immunology · 2022Article
- Distinct pathways of homologous recombination controlled by the SWS1-SWSAP1-SPIDR complex.Nature communications · 2021Article
- Heterozygous germlineProceedings of the National Academy of Sciences of the United States of America · 2020Article
- Fanconi anaemia and cancer: an intricate relationship.Nature reviews. Cancer · 2018Review
- Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition.Molecular syndromology · 2017Review
- Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.Molecular genetics & genomic medicine · 2016Article
- A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.Molecular biology reports · 2014Article
- Aberrant chromosome morphology in human cells defective for Holliday junction resolution.Nature · 2011Article
- Dominant negative mutations affect oligomerization of human pyruvate kinase M2 isozyme and promote cellular growth and polyploidy.The Journal of biological chemistry · 2010Article
- Mechanisms of recombination between diverged sequences in wild-type and BLM-deficient mouse and human cells.Molecular and cellular biology · 2010Article
- SUMO modification regulates BLM and RAD51 interaction at damaged replication forks.PLoS biology · 2009Article
- The HRDC domain of BLM is required for the dissolution of double Holliday junctions.The EMBO journal · 2005Article
- Identification of RecQL1 as a Holliday junction processing enzyme in human cell lines.Nucleic acids research · 2005Article
- Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype.Oncogene · 2004Article
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- Differential regulation of human RecQ family helicases in cell transformation and cell cycle.Oncogene · 2000Article
- A role for PML and the nuclear body in genomic stability.Oncogene · 1999Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
The gene BLM, mutated in Bloom syndrome (BS), encodes the nuclear protein BLM, which when absent, as it is from most BS cells, results in genomic instability. A manifestation of this instability is an excessive rate of sister-chromatid exchange (SCE). Here we describe the effects on this abnormal cellular phenotype of stable transfection of normal BLM cDNAs into two types of BS cells, SV40-transformed fibroblasts and Epstein-Barr virus (EBV)-transformed lymphoblastoid cells. Clones of BLM-transfected fibroblasts produced normal amounts of BLM by western blot analysis and displayed a normal nuclear localization of the protein by immunofluorescence microscopy. They had a mean of 24 SCEs/46 chromosomes, in contrast to the mean of 69 SCEs in controls transfected only with the vector. BLM-transfected fibroblast clones that expressed highest levels of the BLM protein had lowest levels of SCE. The lymphoblastoid cells transfected with BLM had SCE frequencies of 22 and 42 in two separate experiments in which two different selectable markers were used, in contrast to 57 and 58 in vector-transfected cells; in this type cell, however, the BLM protein was below the level detectable by western blot analysis. These experiments prove that BLM cDNA encodes a functional protein capable of restoring to or toward normal the uniquely characteristic high-SCE phenotype of BS cells.
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