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Journal articles on the topic 'Pol01'

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Published: 29 July 2024

Last updated: 30 July 2024

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1

Perfecto-Avalos, Yocanxochitl, Jose R. Borbolla Escoboza, Luis M. Villela-Martiez, et al. "Correlation between FOXP3 Gene Polymorphisms in Donors, and the Severity of Acute Graft-Versus-Host Disease in Patients after Related Allogeneic Stem Cell Transplantation." Blood 110, no. 11 (2007): 3233. http://dx.doi.org/10.1182/blood.v110.11.3233.3233.

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Abstract INTRODUCTION: Acute Graft-versus-host disease (aGVHD) is a major complication of allogeneic stem cell transplantation (alloSCT). Risk factors include patient age, sex matching, CMV status and degree of match. Regulatory T cells are critical for immune tolerance processes such as aGVHD, and express the transcription factor FOXP3, a member of the forkhead/winged-helix family, identified as a key regulatory gene required for the development and activity of these cells. It has been suggested that genetic expression of FOXP3 is inversely correlated with the severity of the GVHD. We studied

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Pachlopnik Schmid, Jana, Roxane Lemoine, Nadine Nehme та ін. "Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)". Journal of Experimental Medicine 209, № 13 (2012): 2323–30. http://dx.doi.org/10.1084/jem.20121303.

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DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ε 1), encoding the catalytic subunit of Polε, caused facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) in a large, consanguineous family. The mutation resulte

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3

TUBAU, SUSAGNA. "The asymmetric behavior of English negative quantifiers in negative sentences." Journal of Linguistics 56, no. 4 (2020): 775–806. http://dx.doi.org/10.1017/s0022226719000495.

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In this paper, the unexpected behavior of object negative quantifiers in some diagnostic tests of sentential negation is accounted for within a Minimalist framework assuming that: (i) negative quantifiers decompose into negation and an existential quantifier; (ii) negative quantifiers are multidominant phrase markers, as Parallel Merge allows the verb to c-select their existential part but not their negative part, thus giving negation remerge flexibility; (iii) tag questions involve or-coordination of TPs, and neither/so clauses involve and-coordination of TPs; (iv) two positions for sententia

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4

Shimada, Kenji, Monika Tsai-Pflugfelder, Niloofar Davoodi Vijeh Motlagh, et al. "The stabilized Pol31–Pol3 interface counteracts Pol32 ablation with differential effects on repair." Life Science Alliance 4, no. 9 (2021): e202101138. http://dx.doi.org/10.26508/lsa.202101138.

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DNA polymerase δ, which contains the catalytic subunit, Pol3, Pol31, and Pol32, contributes both to DNA replication and repair. The deletion of pol31 is lethal, and compromising the Pol3–Pol31 interaction domains confers hypersensitivity to cold, hydroxyurea (HU), and methyl methanesulfonate, phenocopying pol32Δ. We have identified alanine-substitutions in pol31 that suppress these deficiencies in pol32Δ cells. We characterize two mutants, pol31-T415A and pol31-W417A, which map to a solvent-exposed loop that mediates Pol31–Pol3 and Pol31–Rev3 interactions. The pol31-T415A substitution compromi

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Miyabayashi, Hiroka, Hiroyuki D. Sakai, and Norio Kurosawa. "DNA Polymerase B1 Binding Protein 1 Is Important for DNA Repair by Holoenzyme PolB1 in the Extremely Thermophilic Crenarchaeon Sulfolobus acidocaldarius." Microorganisms 9, no. 2 (2021): 439. http://dx.doi.org/10.3390/microorganisms9020439.

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DNA polymerase B1 (PolB1) is a member of the B-family DNA polymerase family and is a replicative DNA polymerase in Crenarchaea. PolB1 is responsible for the DNA replication of both the leading and lagging strands in the thermophilic crenarchaeon Sulfolobus acidocaldarius. Recently, two subunits, PolB1-binding protein (PBP)1 and PBP2, were identified in Saccharolobus solfataricus. Previous in vitro studies suggested that PBP1 and PBP2 influence the core activity of apoenzyme PolB1 (apo-PolB1). PBP1 contains a C-terminal acidic tail and modulates the strand-displacement synthesis activity of Pol

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6

Yao, Jianfei, Shiying Dang, Lifeng Li, et al. "Characteristics of POLE and POLD1 gene variations in Chinese cancer patients." Journal of Clinical Oncology 37, no. 15_suppl (2019): e14031-e14031. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e14031.

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e14031 Background: POLE and POLD1 gene variations have been suggested as potential markers for immunotherapy due to their significant association with the tumor mutation burden (TMB), an effective indicator for response prediction in immunotherapy. Methods: In this study, we systematically studied the spectrum and characteristics of POLE and POLD1 gene variations from 1,392 Chinese cancer patients, and their correlation with existing immunotherapeutic markers and cancer associated genes. Results: We found that the frequency of POLE variations was not statistically different from that in COSMIC

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7

Tian, Junjie, Cheng Cheng, Jianguo Gao, et al. "POLD1 as a Prognostic Biomarker Correlated with Cell Proliferation and Immune Infiltration in Clear Cell Renal Cell Carcinoma." International Journal of Molecular Sciences 24, no. 7 (2023): 6849. http://dx.doi.org/10.3390/ijms24076849.

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DNA polymerase delta 1 catalytic subunit (POLD1) plays a vital role in genomic copy with high fidelity and DNA damage repair processes. However, the prognostic value of POLD1 and its relationship with tumor immunity in clear cell renal cell carcinoma (ccRCC) remains to be further explored. Transcriptional data sets and clinical information were obtained from the TCGA, ICGC, and GEO databases. Differentially expressed genes (DEGs) were derived from the comparison between the low and high POLD1 expression groups in the TCGA–KIRC cohort. KEGG and gene ontology (GO) analyses were performed for tho

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8

Coston, Tucker, Elizabeth Mauer, Jeremy Clifton Jones, et al. "Characterizing the genomic landscape of POLE/POLD1-mutated colorectal adenocarcinoma." Journal of Clinical Oncology 41, no. 4_suppl (2023): 199. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.199.

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199 Background: The progression of neoplasia in colorectal cancer (CRC) has been well characterized, with the evolution typically involving mutations in APC, KRAS, and p53, among others. POLE/POLD1 genes encode for proteins essential in enzymatic DNA polymerase function, yet POLE/POLD1 mutations in tumors are poorly characterized. Pathogenic mutations in POLE/POLD1 lead to decreased fidelity of DNA replication, resulting in a high tumor mutational burden (TMB-H) independent of deficient mismatch repair (dMMR) and high microsatellite instability (MSI-H). Studies have shown associations between

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9

Jia, Yongning, Yaqun Xin, Hongling Yuan, et al. "Abstract 5751: Comprehensive analysis of POLE/POLD1 variants, MMR deficient/MSI, and tumor mutational burden in Chinese population." Cancer Research 82, no. 12_Supplement (2022): 5751. http://dx.doi.org/10.1158/1538-7445.am2022-5751.

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Abstract Background: Mutations in genes encoding DNA polymerase epsilon (POLE) and delta 1 (POLD1) can lead to defects in the DNA replication, resulting in a hypermutated tumor phenotype, which might help identify potential responders to immunotherapy. This study aims to comprehensively investigate the different variants of POLE/POLD1 mutants and how it related to MSI/MMR status and TMB levels within a large Chinese population. Methods:Among 15640 Chinese patients who underwent NGS testing, the prevalence of POLE/POLD1 mutants was analyzed and the high frequencies of POLE/POLD1 variants as wel

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10

Syed, Masood Pasha, Morgan Ferrell, Svea Cheng, et al. "Molecular and clinical characteristics of POLE/POLD1 alterations among patients with colorectal cancer." Journal of Clinical Oncology 42, no. 3_suppl (2024): 184. http://dx.doi.org/10.1200/jco.2024.42.3_suppl.184.

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184 Background: POLE and POLD1 alterations (DNA polymerase ε and DNA polymerase δ) are key biomarkers of immune response for patients with MSS colorectal cancers (CRC). The clinical and molecular characteristics of POLE/POLD1 alterations are not yet well defined across CRCs. In this study, we investigated the clinical/molecular features of POLE and POLD1 alterations and its association with MSI-H CRC. Methods: All the patients and mutation data were selected from the cBioPortal database (https://www.cbioportal.org). All nonsynonymous mutations including missense, frameshift, nonsense, nonstop,

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Niu, Yanling, Tonghui Ma, Yanling Niu, and Tao Li. "Investigating the various predictive values of POLE/POLD1 mutations for response to immune checkpoint inhibitors (ICIs) in different solid tumors." Journal of Clinical Oncology 39, no. 15_suppl (2021): 2606. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.2606.

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2606 Background: Both POLE and POLD1 encode the catalytic subunit of polymerase enzyme complexes involved in DNA replication and repair. The mutations of POLE and POLD1 have been shown to be oncogenic and lead to DNA repair defects and elevated tumor mutation burden (TMB). And patients with POLE/POLD1 mutations are more likely to benefit from ICIs therapy. Previous studies have shown that TMB has divergent predictive value for response to ICIs therapy in different cancer types. We hypothesized that the associations between POLE/POLD1 mutations and ICIs efficacy are also varied in different sol

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12

Lin, Xia. "PO01." Brachytherapy 20, no. 3 (2021): S56. http://dx.doi.org/10.1016/j.brachy.2021.06.089.

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Tsao, Wei-chung, Raquel Buj, Katherine M. Aird, Julia M. Sidorova, and Kristin A. Eckert. "Overexpression of oncogenic H-Ras in hTERT-immortalized and SV40-transformed human cells targets replicative and specialized DNA polymerases for depletion." PLOS ONE 16, no. 5 (2021): e0251188. http://dx.doi.org/10.1371/journal.pone.0251188.

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DNA polymerases play essential functions in replication fork progression and genome maintenance. DNA lesions and drug-induced replication stress result in up-regulation and re-localization of specialized DNA polymerases η and κ. Although oncogene activation significantly alters DNA replication dynamics, causing replication stress and genome instability, little is known about DNA polymerase expression and regulation in response to oncogene activation. Here, we investigated the consequences of mutant H-RAS G12V overexpression on the regulation of DNA polymerases in h-TERT immortalized and SV40-t

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14

Gutiérrez, Pedro J. A., and Teresa S.-F. Wang. "Genomic Instability Induced by Mutations in Saccharomyces cerevisiae POL1." Genetics 165, no. 1 (2003): 65–81. http://dx.doi.org/10.1093/genetics/165.1.65.

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Abstract Mutations of chromosome replication genes can be one of the early events that promote genomic instability. Among genes that are involved in chromosomal replication, DNA polymerase α is essential for initiation of replication and lagging-strand synthesis. Here we examined the effect of two mutations in S. cerevisiae POL1, pol1-1 and pol1-17, on a microsatellite (GT)16 tract. The pol1-17 mutation elevated the mutation rate 13-fold by altering sequences both inside and downstream of the (GT)16 tract, whereas the pol1-1 mutation increased the mutation rate 54-fold by predominantly alterin

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Pasli, Melisa, Sara Cowles, Jasmin Jo, et al. "Miscellaneous Posters PO101." Brachytherapy 22, no. 5 (2023): S119. http://dx.doi.org/10.1016/j.brachy.2023.06.202.

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Yang, Gao, Jian'An Huang, Yukun Zu, et al. "Analysis of mutation detection of POLD1/pole in pan-cancer." Journal of Clinical Oncology 38, no. 15_suppl (2020): 3142. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.3142.

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3142 Background: Previous studies proved that mutation of POLD1 and POLE elevates base-substitution mutations and lead to the elevation of tumor mutation burden (TMB). Other signature needs to explore to identify driver mutations in these two genes. Methods: Using gene-panel target-capture next generation sequencing, we analyzed the TMB and POLD1/POLE mutation in 17383 tumor tissue or plasma ctDNA samples from different patients. Results: Tumor mutation burdens were calculated of all the 17383 samples. According to the present research and our panel, we use 10 and 100 Mut/Mb to define hypermut

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17

Lin, Xia. "Physics PO01." Brachytherapy 20, no. 3 (2021): S5. http://dx.doi.org/10.1016/j.brachy.2021.05.104.

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Gola, Michał, Przemysław Stefaniak, Janusz Godlewski, Barbara Alicja Jereczek-Fossa, and Anna Starzyńska. "Prospects of POLD1 in Human Cancers: A Review." Cancers 15, no. 6 (2023): 1905. http://dx.doi.org/10.3390/cancers15061905.

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Cancer is the second leading cause of death globally, exceeded only by cardiovascular disease. Despite the introduction of several survival-prolonging treatment modalities, including targeted therapy and immunotherapy, the overall prognosis for the metastatic disease remains challenging. Therefore, the identification of new molecular biomarkers and therapeutic targets related to cancer diagnosis and prognosis is of paramount importance. DNA polymerase delta 1 (POLD1), a catalytic and proofreading subunit of the DNA polymerase δ complex, performs a crucial role in DNA replication and repair pro

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Zheng, Shuhua, Eric D. Donnelly, and Jonathan B. Strauss. "Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer." JAMA Network Open 7, no. 1 (2024): e2351906. http://dx.doi.org/10.1001/jamanetworkopen.2023.51906.

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ImportanceBlack patients with endometrial cancer (EC) in the United States have higher mortality than patients of other races with EC. The prevalence of POLE and POLD1 pathogenic alterations in patients of different races with EC are not well studied.ObjectiveTo explore the prevalence of and outcomes associated with POLE and POLD1 alterations in differential racial groups.Design, Setting, and ParticipantsThis retrospective cohort study incorporated the largest available data set of patients with EC, including American Association for Cancer Research Project GENIE (Genomics Evidence Neoplasia I

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20

Siraj, Abdul K., Rong Bu, Maham Arshad, et al. "POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer." Endocrine Connections 9, no. 9 (2020): 923–32. http://dx.doi.org/10.1530/ec-20-0258.

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Thyroid cancer is the most frequent endocrine cancer with an increasing incidence rate worldwide and is the second most common malignancy among females in Saudi Arabia. Papillary thyroid cancer (PTC) is the most common subtype. Germline pathogenic variants in the proofreading domain of the POLE and POLD1 genes predispose to several types of cancers. However, the role of pathogenic variants of these two genes in PTC remains unknown. Capture sequencing, Sanger sequencing and immunohistochemistry were performed on 300 PTC cases from the Middle Eastern region. One germline pathogenic variant each

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Bappy, Md Nazmul Islam, Anindita Roy, Md Gulam Rabbany Rabbi, et al. "Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene." Genetics Research 2022 (May 11, 2022): 1–12. http://dx.doi.org/10.1155/2022/1740768.

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POLD1 (DNA polymerase delta 1, catalytic subunit) is a protein-coding gene that encodes the large catalytic subunit (POLD1/p125) of the DNA polymerase delta (Polδ) complex. The consequence of missense or nonsynonymous SNPs (nsSNPs), which occur in the coding region of a specific gene, is the replacement of single amino acid. It may also change the structure, stability, and/or functions of the protein. Mutation in the POLD1 gene is associated with autosomal dominant predisposition to colonic adenomatous polyps, colon cancer, endometrial cancer (EDMC), breast cancer, and brain tumors. These de n

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Pätzold, LA, D. Bērziņa, Z. Daneberga, J. Gardovskis, and E. Miklaševičs. "Detection of allelic variants of the POLE and POLD1 genes in colorectal cancer patients." Balkan Journal of Medical Genetics 20, no. 2 (2017): 83–87. http://dx.doi.org/10.1515/bjmg-2017-0028.

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Abstract Incidence of colorectal cancer is high worldwide and it mostly occurs as an accumulation of environmental factors and genetic alterations. Hereditary colorectal cancer can develop as a part of a hereditary syndrome. There is a suspected correlation between colorectal cancer and allelic variants of the POLE and POLD1 genes. The aim of the present study was to look for associations between the allelic variants in the POLE and POLD1 genes and colorectal cancer. One thousand, seven hundred and forty-nine DNA samples from colorectal cancer patients were collected from 2002 to 2013. Samples

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Isohanni, P., A. H. Hakonen, L. Euro, et al. "POLG1 manifestations in childhood." Neurology 76, no. 9 (2011): 811–15. http://dx.doi.org/10.1212/wnl.0b013e31820e7b25.

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Venkatesan, Ranga N., Piper M. Treuting, Evan D. Fuller та ін. "Mutation at the Polymerase Active Site of Mouse DNA Polymerase δ Increases Genomic Instability and Accelerates Tumorigenesis". Molecular and Cellular Biology 27, № 21 (2007): 7669–82. http://dx.doi.org/10.1128/mcb.00002-07.

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ABSTRACT Mammalian DNA polymerase δ (Pol δ) is believed to replicate a large portion of the genome and to synthesize DNA in DNA repair and genetic recombination pathways. The effects of mutation in the polymerase domain of this essential enzyme are unknown. Here, we generated mice harboring an L604G or L604K substitution in highly conserved motif A in the polymerase active site of Pol δ. Homozygous Pold1 L604G/L604G and Pold1 L604K/L604K mice died in utero. However, heterozygous animals were viable and displayed no overall increase in disease incidence, indicative of efficient compensation for

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Stopińska, Katarzyna, Tomasz Grzybowski, Boris A. Malyarchuk, Miroslava V. Derenko, and Danuta Miścicka-Sliwka. "Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay." Acta Biochimica Polonica 53, no. 3 (2006): 591–95. http://dx.doi.org/10.18388/abp.2006_3332.

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Many well-defined mutations in the gene for the catalytic subunit of polymerase gamma (POLG1) have been found to be associated with disease, whereas the status of several mutations remains unresolved due to the conflicting reports on their frequencies in populations of healthy individuals. Here, we have developed a highly sensitive, real-time allelic discrimination assay enabling detection of the Y831C mutation in the POLG1 gene. The Y831C mutation is present in the Polish population at a frequency of 2.25%. The new assay is well suited to both extensive population studies and molecular diagno

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Robinson, Philip S., Tim H. H. Coorens, Claire Palles, et al. "Increased somatic mutation burdens in normal human cells due to defective DNA polymerases." Nature Genetics 53, no. 10 (2021): 1434–42. http://dx.doi.org/10.1038/s41588-021-00930-y.

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AbstractMutation accumulation in somatic cells contributes to cancer development and is proposed as a cause of aging. DNA polymerases Pol ε and Pol δ replicate DNA during cell division. However, in some cancers, defective proofreading due to acquired POLE/POLD1 exonuclease domain mutations causes markedly elevated somatic mutation burdens with distinctive mutational signatures. Germline POLE/POLD1 mutations cause familial cancer predisposition. Here, we sequenced normal tissue and tumor DNA from individuals with germline POLE/POLD1 mutations. Increased mutation burdens with characteristic muta

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YÖNTEM, Ahmet, İbrahim BAYRAM, Gülay SEZGİN, Serhan KÜPELİ, Ayşe ÖZKAN, and Atila TANYEL,İ. "DNA polymerase delta (POLD1 and POLD2) gene expression in pediatric acute lymphoblastic leukemia patients and its relationship with prognosis." Cukurova Medical Journal 48, no. 2 (2023): 377–84. http://dx.doi.org/10.17826/cumj.1221593.

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Purpose: This study aimed to investigate the status of DNA polymerase delta (POLD1 and POLD2) gene expression at the time of diagnosis in pediatric acute lymphoblastic leukemia (ALL) patients, compared with the normal population, and its relationship with prognosis and other clinical findings. Materials and Methods: Seventy-three patients diagnosed with ALL between January 2008 and November 2015 and 29 healthy control subjects were included in the study. Gene expression profiling of peripheral blood samples was performed using Real-time PCR. Results: The mean value of POLD1 gene ex

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van Well, Evelien, Tim Govers, Stavroula Giannouli, et al. "GYN Posters PO01." Brachytherapy 22, no. 5 (2023): S65—S66. http://dx.doi.org/10.1016/j.brachy.2023.06.102.

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Sharma, Manish R., James T. Auman, Nirali M. Patel, et al. "Exceptional Chemotherapy Response in Metastatic Colorectal Cancer Associated With Hyper-Indel–Hypermutated Cancer Genome and Comutation of POLD1 and MLH1." JCO Precision Oncology, no. 1 (November 2017): 1–12. http://dx.doi.org/10.1200/po.16.00015.

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Purpose A 73-year-old woman with metastatic colon cancer experienced a complete response to chemotherapy with dose-intensified irinotecan that has been durable for 5 years. We sequenced her tumor and germ line DNA and looked for similar patterns in publicly available genomic data from patients with colorectal cancer. Patients and Methods Tumor DNA was obtained from a biopsy before therapy, and germ line DNA was obtained from blood. Tumor and germline DNA were sequenced using a commercial panel with approximately 250 genes. Whole-genome amplification and exome sequencing were performed for POLE

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Meira, Bruna, Rafael Roque, Miguel Pinto, and André Caetano. "Late-onset presentation of POLG1-associated mitochondrial disease." BMJ Case Reports 12, no. 3 (2019): e228482. http://dx.doi.org/10.1136/bcr-2018-228482.

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Mutations in the nuclear POLG1 gene compromise the integrity of mitochondrial DNA and show great allelic and clinical heterogeneity. Among adult POLG1-associated mitochondrial disease, the main clinical feature is chronic progressive external ophthalmoplegia. Other related clinical manifestations are sensory or cerebellar ataxia, peripheral neuropathy, myopathy or extrapyramidal symptoms. We report the case of a 72-year-old man who presented with a late onset sensory neuronopathy, chronic progressive external ophthalmoplegia, gait ataxia and parkinsonism. Genetic studies showed a compound hete

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Yu, Lijun, Meiyan Wei, and Fengyan Li. "Longitudinal Analysis of Gene Expression Changes During Cervical Carcinogenesis Reveals Potential Therapeutic Targets." Evolutionary Bioinformatics 16 (January 2020): 117693432092057. http://dx.doi.org/10.1177/1176934320920574.

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Despite advances in the treatment of cervical cancer (CC), the prognosis of patients with CC remains to be improved. This study aimed to explore candidate gene targets for CC. CC datasets were downloaded from the Gene Expression Omnibus database. Genes with similar expression trends in varying steps of CC development were clustered using Short Time-series Expression Miner (STEM) software. Gene functions were then analyzed using the Gene Ontology (GO) database and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. Protein interactions among genes of interest were predicted, fol

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Pang, Linrong, Tao Xu, Hua Tao, et al. "The landscape of POLE/POLD1 mutations in Chinese solid tumor patients." Journal of Clinical Oncology 37, no. 15_suppl (2019): e13050-e13050. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13050.

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e13050 Background: DNA polymerase epsilon and polymerase delta encoded by the POLE and POLD1 gene are the major components participating in DNA replication, which both carry a proofreading (exonuclease) domain allowing error correction during replication. In case of POLE/POLD1 mutation, a deficient DNA repair activity results in a hypermutated phenotype of cancer, which would be a promising biomarker for immune checkpoint inhibitors (ICPIs). However, the prevalence of POLE and POLD1 in Chinese patients (pts) with solid tumors remained unknown. Methods: Targeted panel sequencing of 450 cancer g

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Dawan, Jirapat, and Juhee Ahn. "Variability in Adaptive Resistance of Salmonella Typhimurium to Sublethal Levels of Antibiotics." Antibiotics 11, no. 12 (2022): 1725. http://dx.doi.org/10.3390/antibiotics11121725.

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This study was designed to evaluate the adaptive resistance of Salmonella Typhimurium under continuous sublethal selective pressure. Salmonella Typhimurium ATCC 19585 (STATCC) and S. Typhimurium CCARM 8009 (STCCARM) were sequentially cultured for 3 days at 37 °C in trypticase soy broth containing 1/2 × MICs of cefotaxime (CEF1/2), chloramphenicol (CHL1/2), gentamicin (GEN1/2), and polymyxin B (POL1/2). The STATCC and STCCARM exposed to CEF1/2, CHL1/2, GEN1/2, and POL1/2 were evaluated using antibiotic susceptibility, cross-resistance, and relative fitness. The susceptibilities of STATCC expose

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Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "POLG1 mutations in bipolar disorders." Psychiatry and Clinical Neurosciences 71, no. 8 (2017): 569. http://dx.doi.org/10.1111/pcn.12509.

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Tiangyou, W., G. Hudson, D. Ghezzi, et al. "POLG1 in idiopathic Parkinson disease." Neurology 67, no. 9 (2006): 1698–700. http://dx.doi.org/10.1212/01.wnl.0000238963.07425.d5.

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Miguel, Rita, Miguel Fernandes Gago, João Martins, Pedro Barros, José Vale, and Maria José Rosas. "POLG1-related levodopa-responsive parkinsonism." Clinical Neurology and Neurosurgery 126 (November 2014): 47–54. http://dx.doi.org/10.1016/j.clineuro.2014.08.020.

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Finsterer, Josef, and Fulvio A. Scorza. "Phenotypic spectrum of POLG1 mutations." Neurological Sciences 39, no. 3 (2017): 571–73. http://dx.doi.org/10.1007/s10072-017-3116-1.

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Wang, Tao, Dingwei Liu, Lin Wang, et al. "DNA Repair Genes Are Associated with Subtype Classification, Prognosis, and Immune Infiltration in Uveal Melanoma." Journal of Oncology 2022 (January 19, 2022): 1–18. http://dx.doi.org/10.1155/2022/1965451.

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Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. DNA repair genes play a vital role in cancer development. However, there has been very little research about DNA repair genes in UM. This study aimed to evaluate the importance of DNA repair genes and established a signature for predicting prognosis and immune features of UM. In this study, we mined TCGA database through bioinformatics analysis, and the intersect was taken between DNA repair genes and prognosis related genes and yielded 52 genes. We divided 80 UM patients into C1 and C2 subtypes. GSEA results indi

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Martin, Aegina Adams, Isabelle Dionne, Raymund J. Wellinger та Connie Holm. "The Function of DNA Polymerase α at Telomeric G Tails Is Important for Telomere Homeostasis". Molecular and Cellular Biology 20, № 3 (2000): 786–96. http://dx.doi.org/10.1128/mcb.20.3.786-796.2000.

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ABSTRACT Telomere length control is influenced by several factors, including telomerase, the components of telomeric chromatin structure, and the conventional replication machinery. Although known components of the replication machinery can influence telomere length equilibrium, little is known about why mutations in certain replication proteins cause dramatic telomere lengthening. To investigate the cause of telomere elongation in cdc17/pol1 (DNA polymerase α) mutants, we examined telomeric chromatin, as measured by its ability to repress transcription on telomere-proximal genes, and telomeri

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Peramachi Palanivelu. "Polymerase and Proofreading Exonuclease Domains in the DNA Polymerase γ and Nuclear-encoded RNA Polymerase of the Human Mitochondria and Identification of Mitochondrial Disease Mutations in the Polymerase Active Site Region of DNA Polymerase γ". World Journal of Advanced Research and Reviews 21, № 2 (2024): 979–1005. http://dx.doi.org/10.30574/wjarr.2024.21.2.0512.

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Recent reports have made it clear that mutations in the mitochondrial DNA (mtDNA) polymerase γ (POLG1) are a major cause of many human diseases. Mutations in the mtDNA polymerase leads to defective oxidative phosphorylation and ATP production, resulting in many mitochondrial diseases. For their mitochondrial genome replication, humans and animals use POLG1, whose catalytic site is essentially similar to the E. coli DNA polymerase I (DNA pol I). Multiple sequence alignment (MSA) analysis have shown that the POLG1 and E. coli DNA pol I use identical amino acids in their polymerase catalytic site

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Wei, Christina Hsiao, Edward Wenge Wang, Lingzi Ma, et al. "POLD1 DEDD Motif Mutation Confers Hypermutation in Endometrial Cancer and Durable Response to Pembrolizumab." Cancers 15, no. 23 (2023): 5674. http://dx.doi.org/10.3390/cancers15235674.

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Background: Mutations in the DNA polymerase delta 1 (POLD1) exonuclease domain cause DNA proofreading defects, hypermutation, hereditary colorectal and endometrial cancer, and are predictive of immunotherapy response. Exonuclease activity is carried out by two magnesium cations, bound to four highly conserved, negatively charged amino acids (AA) consisting of aspartic acid at amino acid position 316 (p.D316), glutamic acid at position 318 (p.E318), p.D402, and p.D515 (termed DEDD motif). Germline polymorphisms resulting in charge-discordant AA substitutions in the DEDD motif are classified as

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Singh, Keshav K. "MITOCHONDRIA AS REVERSIBLE REGULATORS OF AGING ASSOCIATED SKIN WRINKLES AND HAIR LOSS IN MICE." Innovation in Aging 3, Supplement_1 (2019): S395. http://dx.doi.org/10.1093/geroni/igz038.1461.

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Abstract To evaluate the consequences of the decline in mtDNA content associated with aging we have created an inducible mouse model expressing, in the polymerase domain of POLG1, a dominant-negative mutation that induces depletion of mtDNA. We utilized this inducible mouse model to modulate mitochondrial function by depleting and repleting the mtDNA content. We demonstrate that, in mice, ubiquitous expression of dominant-negative mutant POLG1 leads to 1) reduction of mtDNA content in skin, 2) skin wrinkles, and 3) hair loss. By turning off the mutant POLG1 transgene expression in the whole an

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Ito, Tetsuya, Tadashi Nomizu, Hidetaka Eguchi, et al. "The first case report of polymerase proofreading-associated polyposis in POLD1 variant, c.1433G>A p.S478N, in Japan." Japanese Journal of Clinical Oncology 50, no. 9 (2020): 1080–83. http://dx.doi.org/10.1093/jjco/hyaa090.

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Abstract Polymerase proofreading-associated polyposis, caused by germline variants in the exonuclease domains of POLD1 and POLE, is a dominantly inherited rare condition characterized by oligo-adenomatous polyposis and increased risk of colorectal cancer, endometrial cancer and brain tumours. We report the first Japanese case of polymerase proofreading-associated polyposis carrying a POLD1 variant. The proband was a Japanese woman who had undergone resections of early colorectal carcinomas repeatedly and a hysterectomy with bilateral oophorectomy for endometrial cancer, all of which were diagn

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Chatre, Laurent, Denis S. F. Biard, Alain Sarasin, and Miria Ricchetti. "Reversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndrome." Proceedings of the National Academy of Sciences 112, no. 22 (2015): E2910—E2919. http://dx.doi.org/10.1073/pnas.1422264112.

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UV-sensitive syndrome (UVSS) and Cockayne syndrome (CS) are human disorders caused by CSA or CSB gene mutations; both conditions cause defective transcription-coupled repair and photosensitivity. Patients with CS also display neurological and developmental abnormalities and dramatic premature aging, and their cells are hypersensitive to oxidative stress. We report CSA/CSB-dependent depletion of the mitochondrial DNA polymerase-γ catalytic subunit (POLG1), due to HTRA3 serine protease accumulation in CS, but not in UVsS or control fibroblasts. Inhibition of serine proteases restored physiologic

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Balasubramanian, S., T. Bettin Thomas, D. Mathavan, et al. "Isolation and Screening of Probiotic Bacteria from the Gut of Polychaetes as a Probiotic Potential for Fish Aquaculture." Nature Environment and Pollution Technology 22, no. 2 (2023): 861–68. http://dx.doi.org/10.46488/nept.2023.v22i02.028.

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In the present study, a total of 17 morphologically different gut-associated bacteria were isolated from four species of estuarine polychaetes: polychaetes Capitella capitata, Scalibregma inflatum, Dendronereis aesturiana, and Namalycastis abiuma. The isolated strains were evaluated for their probiotic activities, such as digestive enzymes including protease, amylase, and lipase, and antimicrobial activities by the agar well diffusion method against fish pathogens. Based on their better enzymatic and antibacterial activities, two bacterial strains, CMST Poly1 and CMST Poly2, were selected for

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Fujita, Takehiro, Masami Shuta, Mika Mano, et al. "Forced Gradient Copolymer for Rational Design of Mussel-Inspired Adhesives and Dispersants." Materials 16, no. 1 (2022): 266. http://dx.doi.org/10.3390/ma16010266.

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In recent years, there has been considerable research into functional materials inspired by living things. Much attention has been paid to the development of adhesive materials that mimic the adhesive proteins secreted by a mussel’s foot. These mussel-inspired materials have superior adhesiveness to various adherents owing to the non-covalent interactions of their polyphenolic moieties, e.g., hydrogen bonding, electrostatic interactions, and even hydrophobic interactions. Various factors significantly affect the adhesiveness of mussel-inspired polymers, such as the molecular weight, cross-link

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Jin, Ying, Run-jie Huang, Zong-jiong Mai, et al. "A phase II clinical trial of toripalimab in advanced solid tumors with POLE/POLD1 mutation." Journal of Clinical Oncology 41, no. 4_suppl (2023): 802. http://dx.doi.org/10.1200/jco.2023.41.4_suppl.802.

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802 Background: Prior studies indicated that polymerase epsilon/polymerase delta (POLE/POLD1) exonuclease domain mutations (POL-EDMs) was associated with the efficacy of immune checkpoint inhibitor (ICI). However, there remains controversy about whether patients with POLE/POLD1 non-exonuclease domain mutations (POLE-non-EDMs), which occupied the majority of POLE/POLD1 mutations, could benefit from ICI. Currently, few prospective clinical trials have evaluated the predictive value of POLE/POLD1 mutation in ICI. Methods: We initiated a phase II clinical trial for non-microsatellite instability-h

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Finsterer, Josef. "Valproate Is Contraindicated in POLG1 Mutations." Pediatric Gastroenterology, Hepatology & Nutrition 22, no. 1 (2019): 105. http://dx.doi.org/10.5223/pghn.2019.22.1.105.

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El-Baba, Chirine, Zeinab Ayache, Mona Goli, et al. "The Antitumor Effect of the DNA Polymerase Alpha Inhibitor ST1926 in Glioblastoma: A Proteomics Approach." International Journal of Molecular Sciences 24, no. 18 (2023): 14069. http://dx.doi.org/10.3390/ijms241814069.

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Glioblastoma Multiforme (GBM) is the most aggressive form of malignant brain tumor. The median survival rate does not exceed two years, indicating an imminent need to develop novel therapies. The atypical adamantyl retinoid ST1926 induces apoptosis and growth inhibition in different cancer types. We have shown that ST1926 is an inhibitor of the catalytic subunit of DNA polymerase alpha (POLA1), which is involved in initiating DNA synthesis in eukaryotic cells. POLA1 levels are elevated in GBM versus normal brain tissues. Therefore, we studied the antitumor effects of ST1926 in several human GB

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Keshinro, Ajaratu, Chad Vanderbilt, Jin K. Kim, et al. "Tumor-Infiltrating Lymphocytes, Tumor Mutational Burden, and Genetic Alterations in Microsatellite Unstable, Microsatellite Stable, or Mutant POLE/POLD1 Colon Cancer." JCO Precision Oncology, no. 5 (May 2021): 817–26. http://dx.doi.org/10.1200/po.20.00456.

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PURPOSE To characterize the relationship between tumor-infiltrating lymphocytes (TIL), tumor mutational burden (TMB), and genetic alterations in microsatellite stable (MSS), microsatellite instability (MSI), or mutant POLE/POLD1 colon cancer. MATERIALS AND METHODS Four hundred ninety-nine resected stage I-III colon tumors treated between 2014 and 2019 were assessed for TIL; somatic mutations, copy number alterations, and structural changes in > 400 oncogenes; and MSI status. RESULTS Of the 499 tumors analyzed, 313 were MSS, 175 were MSI, and 11 had POLE/POLD1 pathogenic mutations. Both the

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