ArticleAmerican journal of human genetics1997
Genetic mapping using microcell-mediated chromosome transfer suggests a locus for Nijmegen breakage syndrome at chromosome 8q21-24.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 66 citations in OpenAlex.
- NBS1 facilitates preribosomal RNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Monogenic Inborn Errors of Immunity with impaired IgG response to polysaccharide antigens but normal IgG levels and normal IgG response to protein antigens.Frontiers in pediatrics · 2024Review
- Highly Efficient Microcell-Mediated Transfer of HACs Containing a Genomic Region of Interest into Mammalian Cells.Current protocols · 2021Article
- Human Radiosensitivity and Radiosusceptibility: What Are the Differences?International journal of molecular sciences · 2021Review
- A single synonymous mutation determines the phosphorylation and stability of the nascent protein.Journal of molecular cell biology · 2019Article
- Combinations of chromosome transfer and genome editing for the development of cell/animal models of human disease and humanized animal models.Journal of human genetics · 2018Review
- NBS1 and multiple regulations of DNA damage response.Journal of radiation research · 2016Review
- Moving toward a higher efficiency of microcell-mediated chromosome transfer.Molecular therapy. Methods & clinical development · 2016Article
- Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.Biomolecules · 2015Review
- A pathway from chromosome transfer to engineering resulting in human and mouse artificial chromosomes for a variety of applications to bio-medical challenges.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2015Review
- Nijmegen breakage syndrome (NBS).Orphanet journal of rare diseases · 2012Review
- BubR1 localizes to centrosomes and suppresses centrosome amplification via regulating Plk1 activity in interphase cells.Oncogene · 2009Article
- The involvement of DNA-damage and -repair defects in neurological dysfunction.American journal of human genetics · 2008Review
- Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Microcell-mediated chromosome transfer (MMCT): small cells with huge potential.Mammalian genome : official journal of the International Mammalian Genome Society · 2003Review
- Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.Oncogene · 2002Review
- Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.Clinical and experimental immunology · 2002Article
- Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.Molecular and cellular biology · 2001Article
- Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Archives of disease in childhood · 2000Review
- Human monochromosome hybrid cell panel characterized by FISH in the JCRB/HSRRB.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2000Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by microcephaly, short stature, immunodeficiency, and a high incidence of cancer. Cultured cells from NBS show chromosome instability, an increased sensitivity to radiation-induced cell killing, and an abnormal cell-cycle regulation after irradiation. Hitherto, patients with NBS have been divided into the two complementation groups V1 and V2, on the basis of restoration of radioresistant DNA synthesis, suggesting that each group arises from a different gene. However, the presence of genetic heterogeneity in NBS has been considered to be controversial. To localize the NBS gene, we have performed functional complementation assays using somatic cell fusion between NBS-V1 and NBS-V2 cells, on the basis of hyper-radiosensitivity, and then have performed a genomewide search for the NBS locus, using microcell-mediated chromosome transfer followed by complementation assays based on radiosensitivity. We found that radiation resistance was not restored in the fused NBS-V1 and NBS-V2 cells and that only human chromosome 8 complements the sensitivity to ionizing radiation, in NBS cell lines. In complementation assays performed after the transfer of a reduced chromosome, merely the long arm of chromosome 8 was sufficient for restoring the defect. Our results strongly suggest that NBS is a homogeneous disorder and that the gene for NBS is located at 8q21-24.
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