Scientific background: |
RRM2B (Ribonucleotide Reductase, M2 B), also known as P53R2, is an enzyme that in humans is encoded by the RRM2B gene. Tanaka et al. (2000) mapped the p53R2 gene to chromosome 8q23.1 by fluorescence in situ hybridization. Tanaka et al. (2000) found that expression of p53R2, but not R2, was induced by ultraviolet and gamma-irradiation and adriamycin treatment in a wildtype p53-dependent manner. Induction of p53R2 in p53-deficient cells caused G2/M arrest and protected cells from death in response to adriamycin. Inhibition of endogenous p53R2 expression in cells that had an intact p53-dependent DNA damage checkpoint reduced ribonucleotide reductase activity, DNA repair, and cell survival after exposure to various genotoxins. |
References: |
1. Kimura, T., Takeda, S., Sagiya, Y., Gotoh, M., Nakamura, Y., Arakawa, H. Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nature Genet. 34: 440-445, 2003.
2. Kollberg, G., Darin, N., Benan, K., Moslemi, A.-R., Lindal, S., Tulinius, M., Oldfors, A., Holme, E. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromusc. Disord. 19: 147-150, 2009.
3. Takata, A., Kato, M., Nakamura, M., Yoshikawa, T., Kanba, S., Sano, A., Kato, T. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. Genome Biol. 12: R92, 2011.
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