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lüll Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1 Tauchi HJ Radiat Res 2000[Mar]; 41 (1): 9-17Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, combined immunodeficiency, and a high incidence of lymphoid tumor. Cells from NBS patients show chromosomal instability, hypersensitivity to ionizing radiation and abnormal p53-mediated cell cycle regulation. We cloned the underlying gene for NBS, designated NBS1, by complementation-assisted positional cloning from the candidate region 8q21. Large genomic sequencing, as well as a search using computer programs, provides a powerful approach for identifying the underlying gene for a disease. The NBS1 gene encodes a protein of 754 amino acids that has FHA and BRCT domains which often are conserved in cell-cycle checkpoint proteins. The gene has weak homology to the yeast (Saccharomyces cerevisiae) Xrs2 protein in the N-terminus region. Like yeast Xrs2, the NBS1 protein forms a complex with hRAD50/hMRE11, and the complex is condensed as foci in the nucleus after irradiation, indicative that this triple-complex is a crucial factor in DNA repair. Functional analysis of the NBS1 protein is in progress and it should provide further clues to understanding the repair mechanism of radiation-induced DNA double-strand breaks.|*Cloning, Molecular[MESH]|*Genes, Recessive[MESH]|*Saccharomyces cerevisiae Proteins[MESH]|Amino Acid Sequence[MESH]|Ataxia Telangiectasia/classification/*genetics[MESH]|Cell Cycle Proteins/chemistry[MESH]|Cell Line, Transformed[MESH]|Chromosomes, Human, Pair 8/*genetics[MESH]|Chromosomes, Human/radiation effects/ultrastructure[MESH]|DNA Repair/*genetics[MESH]|Ethnicity/genetics[MESH]|Fungal Proteins/genetics[MESH]|Genetic Complementation Test[MESH]|Humans[MESH]|Microcephaly/*genetics[MESH]|Molecular Sequence Data[MESH]|Neoplastic Syndromes, Hereditary/*genetics[MESH]|Nuclear Proteins/*genetics/physiology[MESH]|Poland/epidemiology[MESH]|Protein Structure, Tertiary[MESH]|Radiation Tolerance/*genetics[MESH]|Saccharomyces cerevisiae/genetics[MESH]|Sequence Homology, Amino Acid[MESH]|Severe Combined Immunodeficiency/*genetics[MESH]|Syndrome[MESH] |