Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ].
Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ]. NBS1 homologues from plants are also involved in DNA repair and recombination []. In S. pombe, Nbs1 is required for DNA damage repair and S-phase DNA damage checkpoint [, ].
RAD50 is involved in DNA double-strand break repair (DSBR), telomere maintenance and meiotic recombination [, , ]. The RAD50/MRE11 complex possesses single-strand endonuclease activity and ATP-dependent double-strand-specific exonuclease activity [, ]. RAD50 provides ATP-dependent control of Mre11 by unwinding and/or repositioning DNA ends into the MRE11 active site [, , ]. This entry represents the eukaryotic Rad50 that is distantly related to the SbcC family of bacterial proteins.In Saccharomyces cerevisiae, Rad50 forms the MRX complex with Mre11 and Xrs2. In humans, RAD50 forms the MRN complex with MRE11 and NBN (also known as NBS1). Mutations in the RAD50 gene cause the Nijmegen breakage syndrome-like disorder (NBSLD) []. The genetic variations in the RAD50 gene have been linked to susceptibility to asthma [].
This is the C-terminal region of Nibrin (also known as DNA damage repair protein Nbs1) that has been identified to be necessary for the binding of Mre11 and Tel1 []. Nibrin (also known as Nbs1 or p95) plays an important role in the DNA damage response (DDR) and DNA repair. It is part of the nuclear MRN complex, which consists of Mre11, Rad50, and Nbs1, and is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis [, , , , , ]. Mutations in the NBN gene coding for nibrin cause the Nijmegen Breakage Syndrome (NBS), a rare autosomal recessive disorder characterised by genomic instability and increased risk of haematopoietic malignancies [, ].
