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RRM2B deficiency causes dATP and dGTP depletion through enhanced degradation and slower synthesis.
Awoyomi OF, Gorospe CM, Das B, Mishra P, Sharma S, Diachenko O, Nilsson AK, Tran P, Wanrooij PH, Chabes A. Awoyomi OF, et al. Proc Natl Acad Sci U S A. 2025 Apr 22;122(16):e2503531122. doi: 10.1073/pnas.2503531122. Epub 2025 Apr 17. Proc Natl Acad Sci U S A. 2025. PMID: 40244665 Free PMC article.
Mitochondrial DNA (mtDNA) replication requires a steady supply of deoxyribonucleotides (dNTPs), synthesized de novo by ribonucleotide reductase (RNR). In nondividing cells, RNR consists of RRM1 and RRM2B subunits. ...Identifying dATP and dGTP depletion as a h …
Mitochondrial DNA (mtDNA) replication requires a steady supply of deoxyribonucleotides (dNTPs), synthesized de novo by ribonucleotide …
Identifying ribonucleotide reductase subunit genes as potential lung adenocarcinomas biomarkers using integrated bioinformatics analysis.
Shang J, Kondowe B, Zhang H, Xie X. Shang J, et al. Malawi Med J. 2024 Jul 30;36(2):134-143. doi: 10.4314/mmj.v36i2.11. eCollection 2024 Jun. Malawi Med J. 2024. PMID: 40191558 Free PMC article.
INTRODUCTION: Dysregulation of ribonucleotide reductase (RR) subunit genes (RRM1, RRM2 and RRM2B) expression is reported to be involved in the occurrence of various human malignancies. ...RESULTS: The study found that RRM1 and RRM2 might be an attractive targ …
INTRODUCTION: Dysregulation of ribonucleotide reductase (RR) subunit genes (RRM1, RRM2 and RRM2B) expression is reporte …
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P, Zhou B, Kang Q, Chen X, Tian X, Hui L, Hao S, Wu H, Zhang C. Ma P, et al. Mol Genet Genomic Med. 2024 Jun;12(6):e2434. doi: 10.1002/mgg3.2434. Mol Genet Genomic Med. 2024. PMID: 38860500 Free PMC article.
SOX10 (OMIM # 602229), MYO15A (OMIM # 602666) and WFS1 (OMIM # 606201) were each detected in two patients. Meanwhile, OSBPL2 (OMIM # 606731), RRM2B (OMIM # 604712), OTOG (OMIM # 604487), STRC (OMIM # 606440), PCDH15 (OMIM # 605514), LOXHD1 (OMIM # 613072), CDH23 (OMIM # 60 …
SOX10 (OMIM # 602229), MYO15A (OMIM # 602666) and WFS1 (OMIM # 606201) were each detected in two patients. Meanwhile, OSBPL2 (OMIM # 606731) …
Genetic dissection of Huntington's disease modification by variation at RRM2B.
Lee K, Shin B, Kim M, Lee SW, Oh YM, Kim KH, Jiang A, Ko K, Gillis T, Lucente D, Lee R, Kwak S, Lee JM, Wheeler VC, Yoo AS, Gusella JF, MacDonald ME, Seong IS. Lee K, et al. Hum Mol Genet. 2025 Nov 18;34(23):2004-2018. doi: 10.1093/hmg/ddaf150. Hum Mol Genet. 2025. PMID: 41092345
One such modifier, 8AM1, maps to chromosome 8 near RRM2B, a gene not directly involved in the machinery that lengthens the repeat. To investigate this locus, we performed capture sequencing and identified variants at both the 5' and 3' ends of RRM2B with expected mi …
One such modifier, 8AM1, maps to chromosome 8 near RRM2B, a gene not directly involved in the machinery that lengthens the repeat. To …
p53-dependent crosstalk between DNA replication integrity and redox metabolism mediated through a NRF2-PARP1 axis.
Elfar GA, Aning O, Ngai TW, Yeo P, Chan JWK, Sim SH, Goh L, Yuan J, Phua CZJ, Yeo JZZ, Mak SY, Goh BKP, Chow PK, Tam WL, Ho YS, Cheok CF. Elfar GA, et al. Nucleic Acids Res. 2024 Nov 11;52(20):12351-12377. doi: 10.1093/nar/gkae811. Nucleic Acids Res. 2024. PMID: 39315696 Free PMC article.
We searched for p53-dependent factors and elucidated RRM2B as a prime factor. Deficiency in p53/RRM2B results in the activation of an NRF2 antioxidant transcriptional program, with a concomitant elevation in basal PARylation in cells. Dissecting the consequences of …
We searched for p53-dependent factors and elucidated RRM2B as a prime factor. Deficiency in p53/RRM2B results in the activatio …
Identification of a new human senescent skin cell marker ribonucleoside-diphosphate reductase subunit M2 B.
Takaya K, Kishi K. Takaya K, et al. Biogerontology. 2024 Nov;25(6):1239-1251. doi: 10.1007/s10522-024-10135-5. Epub 2024 Sep 11. Biogerontology. 2024. PMID: 39261410
This requires the identification of specific protein markers of senescent cells, such as ribonucleoside-diphosphate reductase subunit M2 B (RRM2B), which is upregulated in various malignancies in response to DNA stress damage. ...In a model of cellular senescence …
This requires the identification of specific protein markers of senescent cells, such as ribonucleoside-diphosphate reductase subunit …
Genetic and environmental associations of nonspecific chromosomal aberrations.
Hemminki K, Niazi Y, Vodickova L, Vodicka P, Försti A. Hemminki K, et al. Mutagenesis. 2025 Mar 15;40(1):30-38. doi: 10.1093/mutage/geae006. Mutagenesis. 2025. PMID: 38422374 Free PMC article. Review.

The associations (at P < 10-5) on 1473 healthy individuals were broadly classified in candidate genes from functional pathways related to DNA damage response/repair, including PSMA1, UBR5, RRM2B, PMS2P4, STAG3L4, BOD1, COPRS, and FTO; another group included genes relate

…

The associations (at P < 10-5) on 1473 healthy individuals were broadly classified in candidate genes from functional pathways related to

…
RRM1 O-GlcNAcylation inhibition suppresses pancreatic cancer via TK1-mediated replication stress.
Tien SC, Shih M, Hu CM. Tien SC, et al. Cancer Gene Ther. 2025 May;32(5):550-562. doi: 10.1038/s41417-025-00895-8. Epub 2025 Mar 28. Cancer Gene Ther. 2025. PMID: 40155654 Free PMC article.
O-GlcNAcylation of ribonucleotide reductase large subunit M1 (RRM1) at position 734 influences high glucose-induced genomic instability and cell transformation in normal pancreatic cells. By disrupting the ribonucleotide reductase complex, it re …
O-GlcNAcylation of ribonucleotide reductase large subunit M1 (RRM1) at position 734 influences high glucose-induced gen …
Causal associations between human plasma proteins and prostate cancer identified by proteome-wide Mendelian randomization.
Chen L, Gu Y, Chen Y, Yu W, Zhou Y, Rong Z, Pang X. Chen L, et al. Elife. 2025 Nov 17;14:RP101584. doi: 10.7554/eLife.101584. Elife. 2025. PMID: 41247789 Free PMC article.
Druggability analyses nominated several potential drug targets for PCa, such as HSPB1, RRM2B, and PSCA. Our findings reveal novel risk loci and candidate protein biomarkers, providing new etiological insights and potential avenues for PCa early detection and therapy....
Druggability analyses nominated several potential drug targets for PCa, such as HSPB1, RRM2B, and PSCA. Our findings reveal novel ris …
Deoxynucleoside supplementation ameliorates the disease associated phenotypes in a zebrafish model of RRM2B mtDNA depletion syndrome.
Munro B, Hines D, Mueller JS, Horvath R. Munro B, et al. Hum Mol Genet. 2025 May 17;34(11):967-977. doi: 10.1093/hmg/ddaf047. Hum Mol Genet. 2025. PMID: 40211788 Free PMC article.
Zebrafish larvae carrying a homozygous nonsense mutation in rrm2b present with impaired movement, reduced mtDNA copy number and elevated lactate. ...In parallel with increased mtDNA copy number, we detected improved movement and reduction of lactate in the rrm2b-/- …
Zebrafish larvae carrying a homozygous nonsense mutation in rrm2b present with impaired movement, reduced mtDNA copy number and eleva …
24 results