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y-family polymerase

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https://www.readbyqxmd.com/read/28423907/effects-of-active-site-mutations-on-specificity-of-nucleobase-binding-in-human-dna-polymerase-%C3%AE
#1
Melek N Ucisik, Sharon Hammes-Schiffer
Human DNA polymerase η (Pol η) plays a vital role in protection against skin cancer caused by damage from ultraviolet light. This enzyme rescues stalled replication forks at cyclobutane thymine-thymine dimers (TTDs) by inserting nucleotides opposite these DNA lesions. Residue R61 is conserved in the Pol η enzymes across species, but the corresponding residue, as well as its neighbor S62, is different in other Y-family polymerases, Pol ι and Pol κ. Herein, R61 and S62 are mutated to their Pol ι and Pol κ counterparts...
April 20, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28412207/microrna-183-family-profiles-in-pheochromocytomas-are-related-to-clinical-parameters-and-sdhb-expression
#2
Suja Pillai, Chung Y Lo, Victor Liew, Minella Lalloz, Robert A Smith, Vinod Gopalan, Alfred King-Yin Lam
This study aims to examine the expression profiles of the miR-183 cluster (miR-96/182/183) in pheochromocytoma. Pheochromocytoma tissues were prospectively collected from 50 patients with pheochromocytoma. Expression of miR-183 cluster members and SDHB protein expression were analysed in these tissues by quantitative real-time polymerase chain reaction and immunohistochemistry respectively. The expression of miR-183 cluster members in pheochromocytomas was correlated with the clinical and pathological parameters of these patients...
April 12, 2017: Human Pathology
https://www.readbyqxmd.com/read/28402640/mutagenic-replication-of-n-2-deoxyguanosine-benzo-a-pyrene-adducts-by-escherichia-coli-dna-polymerase-i-and-sulfolobus-solfataricus-dna-polymerase-iv
#3
A S Prakasha Gowda, Jacek Krzeminski, Shantu Amin, Zucai Suo, Thomas E Spratt
Benzo[a]pyrene, a potent human carcinogen, is metabolized in vivo to a diol epoxide that reacts with the N(2)-position of guanine to produce N(2)-BP-dG adducts. These adducts are mutagenic causing G to T transversions. These adducts block replicative polymerases but can be bypassed by the Y-family translesion synthesis polymerases. The mechanisms by which mutagenic bypass occurs is not well-known. We have evaluated base pairing structures using atomic substitution of the dNTP with two stereoisomers, 2'-deoxy-N-[(7R,8S,9R,10S)-7,8,9,10-tetrahydro-7,8,9-trihydroxybenzo[a]pyren-10-yl]guanosine and 2'-deoxy-N-[(7S,8R,9S,10R)-7,8,9,10-tetrahydro-7,8,9-trihydroxybenzo[a]pyren-10-yl]guanosine...
April 19, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28401080/comparison-of-the-frequency-of-y-short-tandem-repeats-markers-between-sadat-and-non-sadat-populations-in-isfahan-province-of-iran
#4
Reihaneh Seyedebrahimi, Ebrahim Esfandiari, Bahman Rashidi, Rasoul Salehi, Ali Gholami Dahghi, Shahriar Dabiri, Majid Kheirollahi
BACKGROUND: Y chromosome is one of the two sex chromosomes and is male specific. Due to limited genetic exchange, the main part of that is passed virtually unchanged from one generation to next generation. The short tandem repeats (STRs) are almost constant on chromosomes that make them as an appropriate factor for use in population genetic studies. In this study, we used the STRs of Y chromosome markers in Sadat families and comparison with other families was investigated. MATERIALS AND METHODS: In this study, sampling was done from fifty unrelated males of Sadat families and fifty unrelated males of non-Sadat families...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28383109/simulating-the-fidelity-and-the-three-mg-mechanism-of-pol-%C3%AE-and-clarifying-the-validity-of-transition-state-theory-in-enzyme-catalysis
#5
Hanwool Yoon, Arieh Warshel
Pol η belongs to the important Y family of DNA polymerases that can catalyze translesion synthesis across sites of damaged DNA. This activity involves the reduced fidelity of Pol η for 8-oxo-7,8-dhyedro-2'-deoxoguanosin(8-oxoG). The fundamental interest in Pol η has grown recently with the demonstration of the importance of a 3(rd) Mg(2+) ion. The current work explores both the fidelity of Pol η and the role of the 3(rd) metal ion, by using empirical valence bond (EVB) simulations. The simulations reproduce the observed trend in fidelity and shed a new light on the role of the 3(rd) metal ion...
April 6, 2017: Proteins
https://www.readbyqxmd.com/read/28364784/tty2-genes-deletions-as-genetic-risk-factor-of-male-infertility
#6
F Shaveisi-Zadeh, R Alibakhshi, R Asgari, Z Rostami-Far, M Bakhtiari, H Abdi, A Movafagh, R Mirfakhraie
Y chromosome has a number of genes that are expressed in testis and have a role in spermatogenesis. TTY2L12A and TTY2L2A are the members of testis transcript Y2 (TTY2) that are Y linked multi-copy gene families, located on Yp11 and Yq11 loci respectively. The aim of this study was to investigate frequency of TTY2L12A and TTY2L2A deletions in azoospermic patients compared with fertile males. This study was performed on 45 infertile males with idiopathic azoospermia without any AZF micro deletions (group A), 33 infertile males with azoospermia which do not screened for AZF micro deletions (group B) and 65 fertile males (group C), from October 2013 to April 2015 in west of Iran...
February 28, 2017: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/28362993/association-between-interleukin-17-gene-polymorphisms-and-the-risk-of-laryngeal-cancer-in-a-chinese-population
#7
F Z Si, Y Q Feng, M Han
IL-17 is associated with the occurrence and development of laryngeal cancer. However, no study has reported the association between IL-17 polymorphisms and laryngeal cancer susceptibility. Therefore, we analyzed the association of three polymorphism loci (rs2275913, 197 G/A; rs3748067, 383 A/G; and rs763780, 7488 T/C) of IL-17A and IL-17F with laryngeal cancer in the Chinese population. A case-control study was performed with 325 patients and 325 controls. Polymorphisms were detected by polymerase chain reaction and sequencing methods...
March 30, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28333147/solute-carrier-family-12-member-5-promotes-tumor-invasion-metastasis-of-bladder-urothelial-carcinoma-by-enhancing-nf-%C3%AE%C2%BAb-mmp-7-signaling-pathway
#8
J Y Liu, Y B Dai, X Li, K Cao, D Xie, Z T Tong, Z Long, H Xiao, M K Chen, Y L Ye, B Liu, J Tan, J Tang, Z Z Xu, Y Gan, Y H Zhou, F Deng, L Y He
Solute carrier family 12 member 5 (SLC12A5), an integral membrane KCl cotransporter, which maintains chloride homeostasis in neurons, is aberrantly expressed and involved in the tumorigenesis of certain cancers. However, the clinical significance and biological role of SLC12A5 in human bladder urothelial carcinoma (BUC) remains unclear. In this study, the expression of SLC12A5 was examined in clinical specimens of primary BUC and in BUC cell lines using quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR), western blot and immunohistochemistry (IHC)...
March 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28279077/translesion-dna-polymerases-in-eukaryotes-what-makes-them-tick
#9
Alexandra Vaisman, Roger Woodgate
Life as we know it, simply would not exist without DNA replication. All living organisms utilize a complex machinery to duplicate their genomes and the central role in this machinery belongs to replicative DNA polymerases, enzymes that are specifically designed to copy DNA. "Hassle-free" DNA duplication exists only in an ideal world, while in real life, it is constantly threatened by a myriad of diverse challenges. Among the most pressing obstacles that replicative polymerases often cannot overcome by themselves are lesions that distort the structure of DNA...
March 9, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28275244/mosaic-chromosome-y-loss-and-testicular-germ-cell-tumor-risk
#10
Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Douglas R Stewart
Studies have suggested mosaic loss of chromosome Y (mLOY) in blood-derived DNA is common in older men. Cohort studies investigating mLOY and mortality have reported contradictory results. Previous work found that a 1.6 Mb deletion of the AZFc region on the Y chromosome (the 'gr/gr' deletion) is associated with both male infertility and increased risk of testicular germ cell tumors (TGCT). We investigated whether mosaic loss across the entire Y chromosome was associated with TGCT. We obtained blood- and buccal-derived DNA from two case-control studies: the NCI Familial Testicular Cancer Study (cases=172; controls=163) and the NCI US Servicemen's Testicular Tumor Environmental and Endocrine Determinants Study (cases=506; controls=611)...
March 9, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28265070/bet-n-terminal-bromodomain-inhibition-selectively-blocks-th17-cell-differentiation-and-ameliorates-colitis-in-mice
#11
Kalung Cheung, Geming Lu, Rajal Sharma, Adam Vincek, Ruihua Zhang, Alexander N Plotnikov, Fan Zhang, Qiang Zhang, Ying Ju, Yuan Hu, Li Zhao, Xinye Han, Jamel Meslamani, Feihong Xu, Anbalagan Jaganathan, Tong Shen, Hongfa Zhu, Elena Rusinova, Lei Zeng, Jiachi Zhou, Jianjun Yang, Liang Peng, Michael Ohlmeyer, Martin J Walsh, David Y Zhang, Huabao Xiong, Ming-Ming Zhou
T-helper 17 (Th17) cells have important functions in adaptor immunity and have also been implicated in inflammatory disorders. The bromodomain and extraterminal domain (BET) family proteins regulate gene transcription during lineage-specific differentiation of naïve CD4(+) T cells to produce mature T-helper cells. Inhibition of acetyl-lysine binding of the BET proteins by pan-BET bromodomain (BrD) inhibitors, such as JQ1, broadly affects differentiation of Th17, Th1, and Th2 cells that have distinct immune functions, thus limiting their therapeutic potential...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28253484/identification-of-fragile-x-pre-mutation-carriers-in-the-chinese-obstetric-population-using-a-robust-fmr1-polymerase-chain-reaction-assay-implications-for-screening-and-prenatal-diagnosis
#12
Y Ky Cheng, C Sw Lin, Y Ky Kwok, Y M Chan, T K Lau, T Y Leung, K W Choy
INTRODUCTION: There is significant morbidity associated with fragile X syndrome. Unfortunately, most maternal carriers are clinically silent during their reproductive years. Because of this, many experts have put forward the notion of preconception or prenatal fragile X carrier screening for females. This study aimed to determine the prevalence of fragile X syndrome pre-mutation and asymptomatic full-mutation carriers in a Chinese pregnant population, and the distribution of cytosine-guanine-guanine (CGG) repeat numbers using a robust fragile X mental retardation 1 (FMR1) polymerase chain reaction assay...
March 3, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28228181/characterization-and-functional-analysis-of-serpin-1-like-gene-from-oak-silkworm-antheraea-pernyi
#13
H M Yu, B J Zhu, Y Sun, G Q Wei, L Wang, C Qian, M Nadeem Abbas, C L Liu
Serpins are a broadly distributed family of proteases found in various organisms that play an important role in regulating the immune response. Here, we identified a serpin-1 gene from Antheraea pernyi that encodes a 279 amino acid protein with a molecular weight of 30.8 kDa. We expressed the recombinant Ap-serpin-1 protein in Escherichia coli and used the purified protein to prepare rabbit anti-Ap-serpin-1 polyclonal antibodies. We calculated the enzyme-linked immunosorbent assay titer of the antibody as 1:128000...
February 23, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/28195147/geosmin-producing-species-of-coelosphaerium-synechococcales-cyanobacteria-in-lake-shinji-japan
#14
T Godo, Y Saki, Y Nojiri, M Tsujitani, S Sugahara, S Hayashi, H Kamiya, S Ohtani, Y Seike
In Lake Shinji, Japan, periodic outbreaks of musty odour have occurred since mid-May 2007. Although the substance responsible for the odour was identified as geosmin, the odour-producing organism was unknown. We cultivated an axenic unialgal strain and determined that a species of Coelosphaerium (Synechococcales) was responsible for the production of geosmin in Lake Shinji. Our analysis was conducted using gas chromatography/mass spectrometry to determine the odorous compound. To determine the algae species, it was observed by optical microscopy to describe its morphological characteristics and the polymerase chain reaction was used to characterise the nucleotide sequence of the 16S rRNA gene and the 16S-23S rRNA internal transcribed spacer region...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28140505/n-2-substituted-2-deoxyguanosine-triphosphate-derivatives-as-selective-substrates-for-human-dna-polymerase-%C3%AE%C2%BA
#15
A S Prakasha Gowda, Marietta Lee, Thomas E Spratt
N(2) -Alkyl-2'-deoxyguanosine triphosphate (N(2) -alkyl-dGTP) derivatives with methyl, butyl, benzyl, or 4-ethynylbenzyl substituents were prepared and tested as substrates for human DNA polymerases. N(2) -Benzyl-dGTP was equal to dGTP as a substrate for DNA polymerase κ (pol κ), but was a poor substrate for pols β, δ, η, ι, or ν. In vivo reactivity was evaluated through incubation of N(2) -4-ethynylbenzyl-dG with wild-type and pol κ deficient mouse embryonic fibroblasts. CuAAC reaction with 5(6)-FAM-azide demonstrated that only cells containing pol κ were able to incorporate N(2) -4-ethynylbenzyl-dG into the nucleus...
March 1, 2017: Angewandte Chemie
https://www.readbyqxmd.com/read/28104409/gigantol-from-dendrobium-chrysotoxum-lindl-binds-and-inhibits-aldose-reductase-gene-to-exert-its-anti-cataract-activity-an-in-vitro-mechanistic-study
#16
Jie Wu, Xue Li, Wencheng Wan, Qiaohong Yang, Weifeng Ma, Dan Chen, Jiangmiao Hu, C-Y Oliver Chen, Xiaoyong Wei
ETHNOPHARMACOLOGICAL RELEVANCE: Dendrobium. chrysotoxum Lindl is a commonly used species of medicinal Dendrobium which belongs to the family of Orchidaceae, locally known as "Shihu" or "Huangcao". D. chrysotoxum Lindl is widely known for medicinal values in traditional Chinese medicine as it possesses anti-inflammatory, anti-hyperglycemic induction, antitumor and antioxidant properties. STUDY AIM: To characterize the interaction between gigantol extracted from D...
January 16, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/28098911/diagnosis-for-choroideremia-in-a-large-chinese-pedigree-by-next%C3%A2-generation-sequencing-ngs-and-non%C3%A2-invasive-prenatal-testing-nipt
#17
Li Zhu, Jingliang Cheng, Boxu Zhou, Chunli Wei, Weichan Yang, Dong Jiang, Iqra Ijaz, Xiaojun Tan, Rui Chen, Junjiang Fu
To develop an effective strategy to isolate and use cell‑free fetal DNA (cffDNA) for the combined use of next‑generation sequencing (NGS) for diagnosing choroideremia and non‑invasive prenatal testing (NIPT) for Y chromosome determination, a large Chinese family with an X‑linked recessive disease, choroideremia, was recruited. Cell‑free DNA was extracted from maternal plasma, and SRY polymerase chain reaction amplification was performed using NIPT. Sanger sequencing was subsequently used for fetal amniotic fluid DNA verification...
March 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28092942/advances-in-structural-and-single-molecule-methods-for-investigating-dna-lesion-bypass-and-repair-polymerases
#18
Austin T Raper, Andrew J Reed, Varun V Gadkari, Zucai Suo
Innovative advances in X-ray crystallography and single-molecule biophysics have yielded unprecedented insight into the mechanisms of DNA lesion bypass and damage repair. Time-dependent X-ray crystallography has been successfully applied to view the bypass of 8-oxo-7,8-dihydro-2'-deoxyguanine (8-oxoG), a major oxidative DNA lesion, and the incorporation of the triphosphate form, 8-oxo-dGTP, catalyzed by human DNA polymerase β. Significant findings of these studies are highlighted here, and their contributions to the current mechanistic understanding of mutagenic translesion DNA synthesis (TLS) and base excision repair are discussed...
January 17, 2017: Chemical Research in Toxicology
https://www.readbyqxmd.com/read/28077248/alternative-splicing-at-exon-2-results-in-the-loss-of-the-catalytic-activity-of-mouse-dna-polymerase-iota-in-vitro
#19
Konstantin Y Kazachenko, Nataliya A Miropolskaya, Leonid V Gening, Vyacheslav Z Tarantul, Alena V Makarova
Y-family DNA polymerase iota (Pol ι) possesses both DNA polymerase and dRP lyase activities and was suggested to be involved in DNA translesion synthesis and base excision repair in mammals. The 129 strain of mice and its derivatives have a natural nonsense codon mutation in the second exon of the Pol ι gene resulting in truncation of the Pol ι protein. These mice were widely used as a Pol ι-null model for in vivo studies of the Pol ι function. However whether 129-derived strains of mice are fully deficient in the Pol ι functions was a subject of discussion since Pol ι mRNA undergoes alternative splicing at exon 2...
February 2017: DNA Repair
https://www.readbyqxmd.com/read/28067843/maintenance-of-genome-integrity-how-mammalian-cells-orchestrate-genome-duplication-by-coordinating-replicative-and-specialized-dna-polymerases
#20
REVIEW
Ryan Barnes, Kristin Eckert
Precise duplication of the human genome is challenging due to both its size and sequence complexity. DNA polymerase errors made during replication, repair or recombination are central to creating mutations that drive cancer and aging. Here, we address the regulation of human DNA polymerases, specifically how human cells orchestrate DNA polymerases in the face of stress to complete replication and maintain genome stability. DNA polymerases of the B-family are uniquely adept at accurate genome replication, but there are numerous situations in which one or more additional DNA polymerases are required to complete genome replication...
January 6, 2017: Genes
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