Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve Pubget Overpricing |
lüll Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability Tauchi H; Matsuura S; Kobayashi J; Sakamoto S; Komatsu KOncogene 2002[Dec]; 21 (58): 8967-80DNA double-strand breaks represent the most potentially serious damage to a genome and hence, at least two pathways of DNA repair have evolved; namely, homologous recombination repair and non-homologous end joining. Defects in both rejoining processes result in genomic instability including chromosome rearrangements, LOH and gene mutations, which may lead to development of malignancies. Nijmegen breakage syndrome is a recessive genetic disorder, characterized by elevated sensitivity to ionizing radiation that induces double-strand breaks, and high frequency of malignancies. NBS1, the product of the gene underlying the disease, forms a multimeric complex with hMRE11/hRAD50 nuclease and recruits them to the vicinity of sites of DNA damage by direct binding to phosphorylated histone H2AX. The combination of the highly-conserved NBS1 forkhead associated domain and BRCA1 C-terminus domain has a crucial role for recognition of damaged sites. Thereafter, the NBS1-complex proceeds to rejoin double-strand breaks predominantly by homologous recombination repair in vertebrates. This process collaborates with cell-cycle checkpoints at S and G2 phase to facilitate DNA repair. NBS1 is also associated with telomere maintenance and DNA replication. Based on recent knowledge regarding NBS1, we propose here a two-step binding mechanism for damage recognition by repair proteins, and describe the molecular links to factors for genome stability.|*Saccharomyces cerevisiae Proteins[MESH]|Animals[MESH]|Cell Cycle Proteins/chemistry/*genetics/*metabolism[MESH]|Chromosome Breakage[MESH]|Chromosome Disorders/*etiology/genetics[MESH]|DNA Repair Enzymes[MESH]|DNA Repair/physiology[MESH]|DNA-Binding Proteins/chemistry/genetics/metabolism[MESH]|Disease Models, Animal[MESH]|Fungal Proteins/chemistry/genetics/metabolism[MESH]|Genome, Human[MESH]|Histones/genetics/metabolism[MESH]|Humans[MESH]|MRE11 Homologue Protein[MESH]|Mice[MESH]|Neoplasms/genetics[MESH]|Nuclear Proteins/chemistry/*genetics/*metabolism[MESH]|Phosphorylation[MESH]|Recombination, Genetic[MESH]|Telomere/genetics[MESH] |