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https://www.readbyqxmd.com/read/28910570/nine-novel-pax9-mutations-and-a-distinct-tooth-agenesis-genotype-phenotype
#1
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
#2
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
#3
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
#4
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
#5
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
#6
Cassidy Y Huang, Jane C Burns, Chisato Shimizu
BACKGROUND: Genetic 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. METHODS: We 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...
July 28, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28739826/interleukin-17c-in-human-helicobacter-pylori-gastritis
#7
Shingo Tanaka, Hiroyuki Nagashima, Modesto Cruz, Tomohisa Uchida, Takahiro Uotani, José A Jiménez Abreu, Varocha Mahachai, Ratha-Korn Vilaichone, Thawee Ratanachu-Ek, Lotay Tshering, David Y Graham, Yoshio Yamaoka
The interleukin-17 (IL-17) family of cytokines (IL-17A-F) is involved in many inflammatory diseases. Although IL-17A is recognized as being involved in the pathophysiology of H. pylori-associated diseases, the role of other IL-17 cytokine family members remains unclear. Microarray analysis of IL-17 family cytokines was performed in H. pylori-infected and uninfected gastric biopsy specimens. IL-17C mRNA was upregulated approximately 4.5-fold in H. pylori-infected gastric biopsies. This was confirmed by quantitative reverse transcriptase-polymerase chain reaction in infected and uninfected gastric mucosa obtained from Bhutan and from the Dominican Republic...
July 24, 2017: Infection and Immunity
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#8
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28684739/dna-binding-strength-increases-the-processivity-and-activity-of-a-y-family-dna-polymerase
#9
Jing Wu, Alexandra de Paz, Bradley M Zamft, Adam H Marblestone, Edward S Boyden, Konrad P Kording, Keith E J Tyo
DNA polymerase (pol) processivity, i.e., the bases a polymerase extends before falling off the DNA, and activity are important for copying difficult DNA sequences, including simple repeats. Y-family pols would be appealing for copying difficult DNA and incorporating non-natural dNTPs, due to their low fidelity and loose active site, but are limited by poor processivity and activity. In this study, the binding between Dbh and DNA was investigated to better understand how to rationally design enhanced processivity in a Y-family pol...
July 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28666590/regulation-of-dna-damage-tolerance-in-mammalian-cells-by-post-translational-modifications-of-pcna
#10
REVIEW
Rie Kanao, Chikahide Masutani
DNA damage tolerance pathways, which include translesion DNA synthesis (TLS) and template switching, are crucial for prevention of DNA replication arrest and maintenance of genomic stability. However, these pathways utilize error-prone DNA polymerases or template exchange between sister DNA strands, and consequently have the potential to induce mutations or chromosomal rearrangements. Post-translational modifications of proliferating cell nuclear antigen (PCNA) play important roles in controlling these pathways...
June 21, 2017: Mutation Research
https://www.readbyqxmd.com/read/28655184/characterization-of-a-coupled-dna-replication-and-translesion-synthesis-polymerase-supraholoenzyme-from-archaea
#11
Matthew T Cranford, Aurea M Chu, Joshua K Baguley, Robert J Bauer, Michael A Trakselis
The ability of the replisome to seamlessly coordinate both high fidelity and translesion DNA synthesis requires a means to regulate recruitment and binding of enzymes from solution. Co-occupancy of multiple DNA polymerases within the replisome has been observed primarily in bacteria and is regulated by posttranslational modifications in eukaryotes, and both cases are coordinated by the processivity clamp. Because of the heterotrimeric nature of the PCNA clamp in some archaea, there is potential to occupy and regulate specific polymerases at defined subunits...
August 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28652326/trar-directly-regulates-transcription-initiation-by-mimicking-the-combined-effects-of-the-global-regulators-dksa-and-ppgpp
#12
Saumya Gopalkrishnan, Wilma Ross, Albert Y Chen, Richard L Gourse
The Escherichia coli F element-encoded protein TraR is a distant homolog of the chromosome-encoded transcription factor DksA. Here we address the mechanism by which TraR acts as a global regulator, inhibiting some promoters and activating others. We show that TraR regulates transcription directly in vitro by binding to the secondary channel of RNA polymerase (RNAP) using interactions similar, but not identical, to those of DksA. Even though it binds to RNAP with only slightly higher affinity than DksA and is only half the size of DksA, TraR by itself inhibits transcription as strongly as DksA and ppGpp combined and much more than DksA alone...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28622825/mutagenicity-of-%C3%AF-3-fatty-acid-peroxidation-products-in-the-ames-test
#13
Petr Grúz, Masatomi Shimizu, Kei-Ichi Sugiyama, Masamitsu Honma
Polyunsaturated fatty acids (PUFA) represent one of the main building blocks of cellular membranes and their varying composition impacts lifespan as well as susceptibility to cancer and other degenerative diseases. Increased intake of ω-3 PUFA is taught to compensate for the abundance of ω-6 PUFA in modern human diet and prevent cardiocirculatory diseases. However, highly unsaturated PUFA of marine and seed origin easily oxidize to aldehydic products which form DNA adducts. With increased PUFA consumption it is prudent to re-evaluate ω-3 PUFA safety and the genotoxic hazards of their metabolites...
July 2017: Mutation Research
https://www.readbyqxmd.com/read/28620358/the-transcriptional-regulators-of-the-crp-family-regulate-different-essential-bacterial-functions-and-can-be-inherited-vertically-and-horizontally
#14
REVIEW
Gloria Soberón-Chávez, Luis D Alcaraz, Estefanía Morales, Gabriel Y Ponce-Soto, Luis Servín-González
One of the best-studied transcriptional regulatory proteins in bacteria is the Escherichia coli catabolite repressor protein (CRP) that when complexed with 3'-5'-cyclic AMP (cAMP) changes its conformation and interacts with specific DNA-sequences. CRP DNA-binding can result in positive or negative regulation of gene expression depending on the position of its interaction with respect to RNA polymerase binding site. The aim of this work is to review the biological role and phylogenetic relations that some members of the CRP family of transcriptional regulators (also known as cAMP receptor protein family) have in different bacterial species...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28557584/nhs-gene-mutations-in-ashkenazi-jewish-families-with-nance-horan-syndrome
#15
Nadav Shoshany, Isaac Avni, Yair Morad, Chen Weiner, Adi Einan-Lifshitz, Eran Pras
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28466855/a-domain-in-human-exog-converts-apoptotic-endonuclease-to-dna-repair-exonuclease
#16
Michal R Szymanski, Wangsheng Yu, Aleksandra M Gmyrek, Mark A White, Ian J Molineux, J Ching Lee, Y Whitney Yin
Human EXOG (hEXOG) is a 5'-exonuclease that is crucial for mitochondrial DNA repair; the enzyme belongs to a nonspecific nuclease family that includes the apoptotic endonuclease EndoG. Here we report biochemical and structural studies of hEXOG, including structures in its apo form and in a complex with DNA at 1.81 and 1.85 Å resolution, respectively. A Wing domain, absent in other ββα-Me members, suppresses endonuclease activity, but confers on hEXOG a strong 5'-dsDNA exonuclease activity that precisely excises a dinucleotide using an intrinsic 'tape-measure'...
May 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28458162/a-genetic-study-based-on-pcna-ubiquitin-fusions-reveals-no-requirement-for-pcna-polyubiquitylation-in-dna-damage-tolerance
#17
Judit Z Gervai, Judit Gálicza, Zoltán Szeltner, Judit Zámborszky, Dávid Szüts
Post-translational modifications of Proliferating Cell Nuclear Antigen (PCNA) play a key role in regulating the bypass of DNA lesions during DNA replication. PCNA can be monoubiquitylated at lysine 164 by the RAD6-RAD18 ubiquitin ligase complex. Through this modification, PCNA can interact with low fidelity Y family DNA polymerases to promote translesion synthesis. Monoubiquitylated PCNA can be polyubiquitylated on lysine 63 of ubiquitin by a further ubiquitin-conjugating complex. This modification promotes a template switching bypass process in yeast, while its role in higher eukaryotes is less clear...
June 2017: DNA Repair
https://www.readbyqxmd.com/read/28436337/molecular-cloning-expression-and-characterization-of-e2f-transcription-factor-4-from-antheraea-pernyi
#18
M N Abbas, S Kausar, Y-X Sun, Y Sun, L Wang, C Qian, G-Q Wei, B-J Zhu, C-L Liu
The E2F transcription factor family is distributed widely in eukaryotes and has been well studied among mammals. In the present study, the E2F transcription factor 4 (E2F4) gene was isolated from fat bodies of Antheraea pernyi and sequenced. E2F4 comprised a 795 bp open reading frame encoding a deduced amino acid sequence of 264 amino acid residues. The recombinant protein was expressed in Escherichia coli (Transetta DE3), and anti-E2F4 antibodies were prepared. The deduced amino acid sequence displayed significant homology to an E2F4-like protein from Bombyx mori L...
April 24, 2017: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/28423907/effects-of-active-site-mutations-on-specificity-of-nucleobase-binding-in-human-dna-polymerase-%C3%AE
#19
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
#20
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 analyzed 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...
June 2017: Human Pathology
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