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Data suggest HSP90AA1-dependent regulation of ATM-NBN-CHK2 and ATR-CHK1 axes influences cells capability to repair double-stranded DNA damage; mechanisms include phosphorylation, polyubiquitination, and proteasomal degradation/proteolysis. (HSP90AA1 = heat shock protein 90kDa alpha; ATM = ataxia telangiectasia mutated protein; NBN = nibrin; CHK = checkpoint kinase; ATR = ataxia telangiectasia and Rad3 related kinase)
Mre11 (show MRE11A Proteins)-Rad50 (show RAD50 Proteins)-Nbs1 complex initiates DNA double strand break repair.
Phosphorylation status of NBS1 determines how dysfunctional telomeres are repaired.
The results illuminate the important role of Nbs1 and CtIP (show RBBP8 Proteins) in determining the substrates and consequences of human Mre11 (show MRE11A Proteins)/Rad50 (show RAD50 Proteins) nuclease (show DCLRE1C Proteins) activities on protein-DNA lesions.
The Nbs1 homologs that promote herpes simplex virus 1 infection also interact with the herpes simplex virus 1 ICP0 protein.
The CC genotype of NBS1 Glu185Gln may increase lung cancer risk only for males and smokers and may serve as a practical marker for early detective and predictive purposes of lung cancer
surmise that the higher fertility of female c.657del5 carriers reflects a lower miscarriage rate in these women, thereby reflecting the role of the NBN gene product, nibrin, in the repair of DNA double strand breaks and their processing in immune gene rearrangements, telomere maintenance, and meiotic recombination
although Mre11 (show MRE11A Proteins) is required for efficient HR-dependent repair of ionizing-radiation-induced DSBs, Mre11 (show MRE11A Proteins) is largely dispensable for DSB resection in both chicken DT40 and human TK6 B cell lines.
a somatic missense mutation c.1061C>T (p.P354L) in the NBN gene in a patient with CCS (show CCS Proteins) lacking an EWSR1 (show EWSR1 Proteins)-ATF1 (show AFT1 Proteins) fusion.
The high expression of MRE11 (show MRE11A Proteins)-RAD50 (show RAD50 Proteins)-NBS1 complex constituents could be a predictor for poor prognosis and chemoresistance in gastric cancer
Low NBS1 expression is associated with B-cell lymphomas.
findings show that NBS1 is crucial for macrophage function during normal aging
TRIP13 (show TRIP13 Proteins)-deficient spermatocytes also progress to an H1t (show HIST1H1T Proteins)-positive stage if ATM (show ATM Proteins) activity is attenuated by hypomorphic mutations in Mre11 (show MRE11A Proteins) or Nbs1 or by elimination of the ATM (show ATM Proteins)-effector kinase CHK2 (show CHEK2 Proteins)
In the absence of wild type nibrin, the repair of spontaneous errors, presumably arising during DNA replication, makes a major contribution to the basal mutation rate.
Nbs1 mutants initially accumulate replication intermediate, not DSBs.
This report showed that ATM (show ATM Proteins)-Chk2 (show CHEK2 Proteins)-P53 (show TP53 Proteins) signaling pathway and the AKT (show AKT1 Proteins)/mTOR (show FRAP1 Proteins) signaling pathway are responsible for the enhanced apoptosis of the Nbn-deficient mature oligodendrocytes.
JNK (show MAPK8 Proteins) signaling and ATR signaling are likely to converge to regulate the cerebellar apoptosis of newborn Nbn-deficient mice.
Nbn and Atm (show ATM Proteins) collaborate to prevent DSB accumulation and apoptosis during development in a tissue- and developmental stage-specific manner.
the antagonism and redundancy of ATMIN (show ATMIN Proteins) and NBS1 constitute a crucial regulatory mechanism for ATM (show ATM Proteins) signaling and function.
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation.
, Nijmegen breakage syndrome 1 (nibrin)
, cell cycle regulatory protein p95
, p95 protein of the MRE11/RAD50 complex
, nijmegen breakage syndrome protein 1 homolog