What does MRE11 do?

MRE11 has a role in microhomology-mediated end joining (MMEJ) repair of double strand breaks. It is one of 6 enzymes required for this error prone DNA repair pathway. MRE11 is over-expressed in breast cancers.

What is the mre11a gene?

MRE11 meiotic recombination 11 homolog A (MRE11) is a gene that encodes a nuclear protein that functions in homologous recombination, the maintenance of telomere length, and DNA double-strand break repair.

What does MRE11 stand for?

Meiotic recombination 11 homolog A (MRE11) is the nuclease subunit of the MRN complex, a heterotrimeric complex consisting of MRE11, RAD50, and NBS1 proteins and having diverse roles in several repair pathways.

What proteins are used in homologous recombination?

The central protein involved in homologous recombination is RecA, which promotes the exchange of strands between homologous DNAs that causes heteroduplexes to form (Figure 5.35). The action of RecA can be considered in three stages.

What is 53BP1?

53BP1 mediates the recruitment of factors in the cell cycle G1 phase that play a role in NHEJ, V(D)J and CSR. During S phase after exposure to DNA damaging agents, ATM/MOF-dependent phosphorylated 53BP1 interacts with RIF1, which is critical for intra-S-phase checkpoint activation.

What is RAD50 gene?

RAD50 (RAD50 Double Strand Break Repair Protein) is a Protein Coding gene. Diseases associated with RAD50 include Nijmegen Breakage Syndrome-Like Disorder and Skin Benign Neoplasm. Among its related pathways are Cell Cycle, Mitotic and Integrated Breast Cancer Pathway.

What is NBN mutation?

NBN mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the NBN gene. 2. Cancer risks. You have an increased chance to develop female breast cancer and possibly other cancers such as ovarian cancer.

What is yh2ax?

H2A histone family member X (usually abbreviated as H2AX) is a type of histone protein from the H2A family encoded by the H2AFX gene. An important phosphorylated form is γH2AX (140S), which forms when double-strand breaks appear.

What are 53BP1 foci?

Several observations suggest that the 53BP1 foci represent sites of DNA DSB processing. First, 53BP1 foci were induced by agents that cause DNA DSBs, but not by agents that cause DNA damage other than DSBs or by agents that block DNA replication.

What is the function of RAD50 protein?

The protein complex including Mre11, Rad50, and Nbs1 (MRN) functions in DNA double-strand break repair to recognize and process DNA ends as well as signal for cell cycle arrest. Amino acid sequence similarity and overall architecture make Rad50 a member of the structural maintenance of chromosome (SMC) protein family.