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NBS1Nijmegen Breakage Syndrome 1
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ATM-dependent phosphorylation of BRCA1, NBS1 and two additional players in the NBS1 branch of the pathway the SMC1, a chromosomal structural maintenance protein and FANCD2, a Fanconi anemia complementation group D2 protein, both are needed for an intact intra-S phase checkpoint (Shiloh et al.
Subsequently, several downstream substrates, such as P53 and ChK2, and DNA repair factors, such as H2AX and NBS1, are activated (24).
Note exquisite sensitivity in cell strains derived from DNA damage sensing- or repair-deficient cells derived from patients with abnormal ATM, NBS1 and DNA ligase IV proteins.