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y-family polymerase

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https://www.readbyqxmd.com/read/29318463/a-novel-splice-site-mutation-of-the-prkar1a-gene-c-440-5-g-c-in-a-chinese-family-with-carney-complex
#1
J Fu, F Lai, Y Chen, X Wan, G Wei, Y Li, H Xiao, X Cao
BACKGROUND: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC. METHODS: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Whole blood samples of this pedigree were collected for DNA/RNA analysis. Polymerase chain reaction (PCR) and reverse-transcription polymerase chain reaction analyses were performed to amplify the 11 exons and adjacent introns of PRKAR1A...
January 9, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29284754/viral-discovery-and-diversity-in-trypanosomatid-protozoa-with-a-focus-on-relatives-of-the-human-parasite-leishmania
#2
Danyil Grybchuk, Natalia S Akopyants, Alexei Y Kostygov, Aleksandras Konovalovas, Lon-Fye Lye, Deborah E Dobson, Haroun Zangger, Nicolas Fasel, Anzhelika Butenko, Alexander O Frolov, Jan Votýpka, Claudia M d'Avila-Levy, Pavel Kulich, Jana Moravcová, Pavel Plevka, Igor B Rogozin, Saulius Serva, Julius Lukeš, Stephen M Beverley, Vyacheslav Yurchenko
Knowledge of viral diversity is expanding greatly, but many lineages remain underexplored. We surveyed RNA viruses in 52 cultured monoxenous relatives of the human parasite Leishmania (Crithidia and Leptomonas), as well as plant-infecting PhytomonasLeptomonas pyrrhocoris was a hotbed for viral discovery, carrying a virus (Leptomonas pyrrhocoris ostravirus 1) with a highly divergent RNA-dependent RNA polymerase missed by conventional BLAST searches, an emergent clade of tombus-like viruses, and an example of viral endogenization...
December 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29247828/hypersensitivity-of-mouse-embryonic-fibroblast-cells-defective-for-dna-polymerases-%C3%AE-%C3%AE-and-%C3%AE%C2%BA-to-various-genotoxic-compounds-its-potential-for-application-in-chemical-genotoxic-screening
#3
Jun-Ichi Akagi, Masayuki Yokoi, Young-Man Cho, Takeshi Toyoda, Haruo Ohmori, Fumio Hanaoka, Kumiko Ogawa
Genotoxic agents cause modifications of genomic DNA, such as alkylation, oxidation, bulky adduct formation, and strand breaks, which potentially induce mutations and changes to the structure or number of genes. Majority of point mutations are generated during error-prone bypass of modified nucleotides (translesion DNA synthesis, TLS); however, when TLS fails, replication forks stalled at lesions eventually result in more lethal effects, formation of double-stranded breaks (DSBs). Here we compared sensitivities to various compounds among mouse embryonic fibroblasts derived from wild-type and knock-out mice lacking one of the three Y-family TLS DNA polymerases (Polη, Polι, and Polκ) or all of them (TKO)...
November 26, 2017: DNA Repair
https://www.readbyqxmd.com/read/29238954/il-25-is-involved-in-ctcl-progression-by-establishing-th2-dominant-microenvironment
#4
R Nakajima, T Miyagaki, T Oka, N Takahashi, M Hirakawa, H Suga, A Yoshizaki, H Fujita, Y Asano, M Sugaya, S Sato
BACKGROUND: Interleukin (IL)-25 is a member of the IL-17 family which can promote and augment T-helper type (Th) 2 responses. The expression of IL-25 and its cognate receptor, IL-25 receptor (IL-25R), is upregulated and correlated with disease activity in Th2-associated diseases. OBJECTIVE: To examine the expression and function of IL-25 in cutaneous T-cell lymphoma (CTCL). METHODS: Expression and localization of IL-25 in lesional skin was investigated using immunohistochemistry...
December 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/29234107/bulky-lesion-bypass-requires-dpo4-binding-in-distinct-conformations
#5
Pramodha S Liyanage, Alice R Walker, Alfonso Brenlla, G Andrés Cisneros, Louis J Romano, David Rueda
Translesion DNA synthesis is an essential process that helps resume DNA replication at forks stalled near bulky adducts on the DNA. Benzo[a]pyrene (B[a]P) is a polycyclic aromatic hydrocarbon (PAH) that can be metabolically activated to benzo[a]pyrene diol epoxide (BPDE), which then can react with DNA to form carcinogenic DNA adducts. Here, we have used single-molecule florescence resonance energy transfer (smFRET) experiments, classical molecular dynamics simulations, and nucleotide incorporation assays to investigate the mechanism by which the model Y-family polymerase, Dpo4, bypasses a (+)-cis-B[a]P-N 2-dG adduct in DNA...
December 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29224322/-%C3%AE-1-antitrypsin-pittsburg-mutations-report-of-two-cases-in-the-same-family
#6
L J Cao, X Bai, Z Q Yu, W Zhang, J Su, Z Y Wang, C G Ruan
Objective: To analyze the clinical and laboratory abnormalities of two patients with α1-antitrypsin (α1-AT) Pittsburgh in a family and review the literatures. Methods: Both plasma clotting time and factor activities were performed using clotting or substrate methods. Platelet aggregation was evaluated using an optical aggregometer. The serum protein electrophoresis was performed on Sebia HYDRASYS by using Agarose gel. The exons of α1-AT were amplified by using polymerase chain reaction (PCR) and then sequenced and compared with NCBI GenBank records...
November 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29198202/effects-of-insecticides-chlorpyrifos-emamectin-benzoate-and-fipronil-on-spodoptera-litura-might-be-mediated-by-obps-and-csps
#7
X Lin, Y Jiang, L Zhang, Y Cai
Spodoptera litura is a widespread polyphagous insect pest that can develop resistance and cross-resistance to insecticides, making it difficult to control. Insecticide exposure has previously been linked with induction of specific olfactory-related proteins, including some chemosensory proteins (CSPs) and odorant-binding proteins (OPBs), which may disrupt detection of environmental factors and reduce fitness. However, functional evidence supporting insecticide and OBPs/CSPs mediation remains unknown. Here we fed male S...
December 4, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/29197589/sirt6-expression-and-oxidative-dna-damage-in-individuals-with-prediabetes-and-type-2-diabetes-mellitus
#8
Z Caliskan, T Mutlu, M Guven, M Tuncdemir, M Niyazioğlu, Y Hacioglu, Y Dincer
Sirtuins (SIRTs) is a family of NAD+ dependent histone deacetylases. SIRT6 takes play in glucose homeostasis, genomic stability and DNA repair. Although increased oxidative DNA damage and decreased DNA repair activity were determined in diabetes mellitus, the possible relation between level of oxidative DNA damage and SIRT6 expression has not been investigated so far. We determined SIRT6 expression and urinary 8-hydroxy deoxyguanosine (8-OHdG) levels, marker of oxidative DNA damage, in cases with prediabetes (PreDM) and type 2 diabetes mellitus (T2DM)...
November 29, 2017: Gene
https://www.readbyqxmd.com/read/29129138/the-electrostatic-role-of-the-zn-cys2his2-complex-in-binding-of-operator-dna-with-transcription-factors-mouse-egr-1-from-the-cys2his2-family
#9
Y N Chirgadze, E A Boshkova, R V Polozov, V S Sivozhelezov, A V Dzyabchenko, M B Kuzminsky, V A Stepanenko, V V Ivanov
The mouse factor Zif268, known also as early growth response protein EGR-1, is a classical representative for the Cys2His2 transcription factor family. It is required for binding the RNA polymerase with operator dsDNA to initialize the transcription process. We have shown that only in this family of total six Zn-finger protein families the Zn complex plays a significant role in the protein-DNA binding. Electrostatic feature of this complex in the binding of factor Zif268 from Mus musculus with operator DNA has been considered...
January 7, 2018: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29116069/-participation-of-the-pirna-pathway-in-recruiting-a-component-of-rna-polymerase-i-transcription-initiation-complex-to-germline-cell-nucleoli
#10
E A Fefelova, A D Stolyarenko, E Y Yakushev, V A Gvozdev, M S Klenov
Proteins of the Piwi family and short Piwi-interacting RNAs (piRNAs) ensure the protection of the genome from transposable elements. We have previously shown that nuclear Piwi protein tends to concentrate in the nucleoli of the cells of Drosophila melanogaster ovaries. It could be hypothesized that the function of Piwi in the nucleolus is associated with the repression of R1 and R2 retrotransposons inserted into the rDNA cluster. Here, we show that Piwi participates in recruiting Udd protein to nucleoli. Udd is a component of the conserved Selectivity Factor I-like (SL1-like) complex, which is required for transcription initiation by RNA polymerase I...
September 2017: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/29040737/calcium-driven-dna-synthesis-by-a-high-fidelity-dna-polymerase
#11
Céline Ralec, Etienne Henry, Mélanie Lemor, Tom Killelea, Ghislaine Henneke
Divalent metal ions, usually Mg2+, are required for both DNA synthesis and proofreading functions by DNA polymerases (DNA Pol). Although used as a non-reactive cofactor substitute for binding and crystallographic studies, Ca2+ supports DNA polymerization by only one DNA Pol, Dpo4. Here, we explore whether Ca2+-driven catalysis might apply to high-fidelity (HiFi) family B DNA Pols. The consequences of replacing Mg2+ by Ca2+ on base pairing at the polymerase active site as well as the editing of terminal nucleotides at the exonuclease active site of the archaeal Pyrococcus abyssi DNA Pol (PabPolB) are characterized and compared to other (families B, A, Y, X, D) DNA Pols...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28978678/pufa-status-and-methylmercury-exposure-are-not-associated-with-leukocyte-telomere-length-in-mothers-or-their-children-in-the-seychelles-child-development-study
#12
Alison J Yeates, Sally W Thurston, Huiqi Li, Maria S Mulhern, Emeir M McSorley, Gene E Watson, Conrad F Shamlaye, J J Strain, Gary J Myers, Philip W Davidson, Edwin van Wijngaarden, Karin Broberg
Background: Leukocyte telomere length (TL) is associated with age-related diseases and early mortality, but there is a lack of data on the determinants of TL in early life. Evidence suggests that dietary intake of marine n-3 (ω-3) polyunsaturated fatty acids (PUFAs) is protective of telomere attrition, yet the effect of methylmercury exposure, also found in fish, on TL is unknown.Objective: The aim of this study was to investigate the associations between prenatal PUFA status, methylmercury exposure, and TL in mothers and children in the SCDS (Seychelles Child Development Study), for whom fish consumption is high...
November 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28972162/human-dna-polymerase-%C3%AE-accommodates-rna-for-strand-extension
#13
Yan Su, Martin Egli, F Peter Guengerich
Ribonucleotides are the natural analogs of deoxyribonucleotides, which can be misinserted by DNA polymerases, leading to the most abundant DNA lesions in genomes. During replication, DNA polymerases tolerate patches of ribonucleotides on the parental strands to different extents. The majority of human DNA polymerases have been reported to misinsert ribonucleotides into genomes. However, only PrimPol, DNA polymerase α, telomerase, and the mitochondrial human DNA polymerase (hpol) γ have been shown to tolerate an entire RNA strand...
November 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28950778/first-report-of-a-novel-deletion-due-to-%C3%AE%C2%B5%C3%AE-%C3%AE-%C3%AE-thalassemia-in-a-chinese-family
#14
Annie S Y Hui, Patrick K C Au, Yuen-Ha Ting, Anita S Y Kan, Yvonne K Y Cheng, Alex W K Leung, Kelvin Y K Chan, Chi-Kong Li, Mary H Y Tang, Tak-Yeung Leung
A fetus of Chinese descent presented with ultrasound features of anemia at 20 weeks' gestation. Father had low a mean corpuscular volume (MCV) level. Multiplex gap-polymerase chain reaction (gap-PCR) excluded common α-thalassemia (α-thal) deletions and mutations and PCR sequencing of the α1- and α2-globin genes were negative. The fetus had a normal karyotype. Array comparative genomic hybridization (aCGH) showed a single copy loss of 189.87 kb in chromosome 11p15.4, involving the whole β-globin gene cluster, inherited from the father...
May 2017: Hemoglobin
https://www.readbyqxmd.com/read/28910570/nine-novel-pax9-mutations-and-a-distinct-tooth-agenesis-genotype-phenotype
#15
S-W Wong, D Han, H Zhang, Y Liu, X Zhang, M Z Miao, Y Wang, N Zhao, L Zeng, B Bai, Y-X Wang, H Liu, S A Frazier-Bowers, H Feng
Tooth agenesis is one of the most common developmental anomalies affecting function and esthetics. The paired-domain transcription factor, Pax9, is critical for patterning and morphogenesis of tooth and taste buds. Mutations of PAX9 have been identified in patients with tooth agenesis. Despite significant progress in the genetics of tooth agenesis, many gaps in knowledge exist in refining the genotype-phenotype correlation between PAX9 and tooth agenesis. In the present study, we complete genetic and phenotypic characterization of multiplex Chinese families with nonsyndromic (NS) tooth agenesis...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28895416/associations-of-the-variable-number-of-tandem-repeats-polymorphism-in-the-smyd3-gene-with-risk-and-prognosis-of-esophageal-cancer-a-case-control-study
#16
H F Wang, Y L Qu, L Y Ma, Y Tang
The aim of this study was to explore the associations between the variable number of tandem repeats (VNTR) polymorphism in the SMYD3 gene and the risk and prognosis of esophageal cancer (EC). A total of 546 EC patients (case group) and 580 healthy individuals (control group) were recruited for this study. Direct DNA sequencing of polymerase chain reaction (PCR) products was applied to detect the SMYD3 VNTR genotypes. A non-conditional logistic regression model was used to analyze the associations between different VNTR genotypes and clinicopathological features with the risk of EC...
September 12, 2017: Neoplasma
https://www.readbyqxmd.com/read/28860552/identification-of-amino-acid-residues-involved-in-the-drp-lyase-activity-of-human-pol-%C3%AE
#17
Nataliya Miropolskaya, Ivan Petushkov, Andrey Kulbachinskiy, Alena V Makarova
Besides X-family DNA polymerases (first of all, Pol β) several other human DNA polymerases from Y- and A- families were shown to possess the dRP-lyase activity and could serve as backup polymerases in base excision repair (Pol ι, Rev1, Pol γ and Pol θ). However the exact position of the active sites and the amino acid residues involved in the dRP-lyase activity in Y- and A- family DNA polymerases are not known. Here we carried out functional analysis of fifteen amino acid residues possibly involved in the dRP-lyase activity of human Pol ι...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28834688/innate-immune-genes-in-persistent-mating-induced-endometritis-in-horses
#18
Christina D Marth, Simon M Firestone, Dave Hanlon, Lisa Y Glenton, Glenn F Browning, Neil D Young, Natali Krekeler
Persistent mating-induced endometritis (PMIE) severely decreases fertility in horses. The aim of the present study was to evaluate differences between horses susceptible to PMIE and a control group in terms of the expression of selected immune response and effector genes, and the effects of oestrous cycle stage on this expression. Endometrial biopsies from 18 uterine samples of mares in the control group (eight in dioestrus, 10 in oestrus) and 16 PMIE-susceptible mares (four in dioestrus, 12 in oestrus) were analysed by quantitative real-time reverse transcription-polymerase chain reaction...
August 24, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28806503/identification-of-the-dimer-exchange-interface-of-the-bacterial-dna-damage-response-protein-umud
#19
David A Murison, Rebecca C Timson, Bilyana N Koleva, Michael Ordazzo, Penny J Beuning
The Escherichia coli SOS response, an induced DNA damage response pathway, confers survival on bacterial cells by providing accurate repair mechanisms as well as the potentially mutagenic pathway translesion synthesis (TLS). The umuD gene products are upregulated after DNA damage and play roles in both nonmutagenic and mutagenic aspects of the SOS response. Full-length UmuD is expressed as a homodimer of 139-amino-acid subunits, which eventually cleaves its N-terminal 24 amino acids to form UmuD'. The cleavage product UmuD' and UmuC form the Y-family polymerase DNA Pol V (UmuD'2C) capable of performing TLS...
September 12, 2017: Biochemistry
https://www.readbyqxmd.com/read/28753597/urotensin-2-in-kawasaki-disease-pathogenesis
#20
Cassidy Y Huang, Jane C Burns, Chisato Shimizu
BackgroundGenetic variation in calcium signaling pathways is associated with Kawasaki disease (KD) susceptibility and coronary artery aneurysms (CAA). Expression quantitative trait locus analysis for KD-associated variants in calcium/sodium channel gene solute carrier family 8 member 1 (SLC8A1) revealed an effect on expression of urotensin 2 (UTS2). We speculated that UTS2 is influenced by genetic variation in SLC8A1 and contributes to disease pathogenesis.MethodsWe measured levels of UTS2 and its receptor in blood and tissues using quantitative reverse transcription-polymerase chain reaction, enzyme-linked immunosorbent assay, and immunohistochemical staining...
December 2017: Pediatric Research
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