ArticleAmerican journal of human genetics1998
Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 53 citations in OpenAlex.
- NBS1 facilitates preribosomal RNA biogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway.Frontiers in immunology · 2020Article
- T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.Balkan journal of medical genetics : BJMG · 2016Article
- A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.BMC medical genetics · 2015Article
- Occupational solvent exposure, genetic variation of DNA repair genes, and the risk of non-Hodgkin's lymphoma.European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) · 2012Article
- Clinical radiation sensitivity with DNA repair disorders: an overview.International journal of radiation oncology, biology, physics · 2009Review
- Fanconi anaemia.Journal of medical genetics · 2003Review
- Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability.Oncogene · 2002Review
- Chk2 activation dependence on Nbs1 after DNA damage.Molecular and cellular biology · 2001Article
- Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization.Molecular and cellular biology · 2001Article
- The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone.Clinical reviews in allergy & immunology · 2001Review
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Authors and funding
14 authors at 8 institutions in 5 countries.
Funding
Abstract
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, a birdlike face, growth retardation, immunodeficiency, lack of secondary sex characteristics in females, and increased incidence of lymphoid cancers. NBS cells display a phenotype similar to that of cells from ataxia-telangiectasia patients, including chromosomal instability, radiation sensitivity, and aberrant cell-cycle-checkpoint control following exposure to ionizing radiation. A recent study reported genetic linkage of NBS to human chromosome 8q21, with strong linkage disequilibrium detected at marker D8S1811 in eastern European NBS families. We collected a geographically diverse group of NBS families and tested them for linkage, using an expanded panel of markers at 8q21. In this article, we report linkage of NBS to 8q21 in 6/7 of these families, with a maximum LOD score of 3.58. Significant linkage disequilibrium was detected for 8/13 markers tested in the 8q21 region, including D8S1811. In order to further localize the gene for NBS, we generated a radiation-hybrid map of markers at 8q21 and constructed haplotypes based on this map. Examination of disease haplotypes segregating in 11 NBS pedigrees revealed recombination events that place the NBS gene between D8S1757 and D8S270. A common founder haplotype was present on 15/18 disease chromosomes from 9/11 NBS families. Inferred (ancestral) recombination events involving this common haplotype suggest that NBS can be localized further, to an interval flanked by markers D8S273 and D8S88.
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