Effect of Single-Nucleotide Polymorphisms on Specific Reproduction Parameters in Hungarian Large White Sows
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Down-Regulation of PADI2 Prevents Proliferation and Epithelial
Liu et al. J Transl Med (2020) 18:357 https://doi.org/10.1186/s12967-020-02528-0 Journal of Translational Medicine RESEARCH Open Access Down-regulation of PADI2 prevents proliferation and epithelial-mesenchymal transition in ovarian cancer through inhibiting JAK2/STAT3 pathway in vitro and in vivo, alone or in combination with Olaparib Lidong Liu1,2,3, Zhiwei Zhang1, Guoxiang Zhang1, Ting Wang1, Yingchun Ma1 and Wei Guo1* Abstract Background: Epithelial ovarian cancer (EOC) is the most lethal disease among female genital malignant tumors. Peptidylarginine deiminase type II(PADI II) has been shown to enhance a variety of cancers carcinogenesis, including ovarian cancer. The purpose of this study was to investigate the biological role of PADI2 in ovarian cancer (OC) and the relative mechanism. Methods: Gene Expression Profling Interactive Analysis (GEPIA) (https ://gepia .pku.cn/) and ONCOMINE (https :// www.oncom ine.org/) were used to analyze PADI2 Gene Expression data. The survival curve for the PADI2 gene was generated by using the online Kaplan–Meier mapping site (https ://www.kmplo t.com/). We conducted MTT assay, cloning formation assay and EdU cell proliferation assay to detect the cell activity of PADI2 knockdown A2780 and SKOV3 ovarian cancer cells treated with Olaparib. Cell migration and invasion were observed by would healing and transwell assay. The pathway changes after the treatment of PADI2 were detected by transcriptome sequencing and western blot. The role of PADI2 combined with Olaparib treatment in vivo was studied in nude mouse model bearing ovarian cancer tumor. Results: We investigated the role of PADI2 on EOC in vitro and in vivo. -
Human Identification by Amelogenin Test in Libyans
American Journal of www.biomedgrid.com Biomedical Science & Research ISSN: 2642-1747 --------------------------------------------------------------------------------------------------------------------------------- Research Article Copyright@ Samir Elmrghni Human Identification by Amelogenin Test in Libyans Samir Elmrghni* and Mahmoud Kaddura Department of Forensic Medicine and Toxicology, University of Benghazi, Libya *Corresponding author: Samir Elmrghni, Faculty of Medicine, Department of Forensic Medicine and Toxicology, University of Benghazi-Libya, Benghazi, Libya. To Cite This Article: Samir Elmrghni. Human Identification by Amelogenin Test in Libyans. Am J Biomed Sci & Res. 2019 - 3(6). AJBSR. MS.ID.000737. DOI: 10.34297/AJBSR.2019.03.000737 Received: May 25, 2019 | Published: July 11, 2019 Abstract Sex typing is essential in medical diagnosis of sex-linked disease and forensic science. Gender for criminal evidence of offender is usually as reported the anomalous amelogenin results of 2 male samples (out of 238 males) represented as females (Y deletions) and another 2 samples the initial information for investigation. For individualization, identification of gender is performed in addition to the STR markers recently. We amelogenin results of the controversial samples, DNA was further used in SRY and Y-STR typing. All samples typed as males but two showed with with (X deletions) in Benghazi (Libya). The frequency in both was about 0.8%. Higher than those of the other populations reported. To confirm X chromosomes. From the results, it was highly suggested that for the controversial cases of human gender identification with amelogenin tests, amplificationKeywords: Amelogenin; of SRY gene Libyans or/and Y-STR markers will be adopted to confirm the gender [1]. Introduction gene (AMG) was precisely mapped in the p22 region on the X systems used to determine if the sample being tested is of male gene was first isolated and sequenced [2]. -
Biomarkers of Neonatal Skin Barrier Adaptation Reveal Substantial Differences Compared to Adult Skin
www.nature.com/pr CLINICAL RESEARCH ARTICLE OPEN Biomarkers of neonatal skin barrier adaptation reveal substantial differences compared to adult skin Marty O. Visscher1,2, Andrew N. Carr3, Jason Winget3, Thomas Huggins3, Charles C. Bascom3, Robert Isfort3, Karen Lammers1 and Vivek Narendran1 BACKGROUND: The objective of this study was to measure skin characteristics in premature (PT), late preterm (LPT), and full-term (FT) neonates compared with adults at two times (T1, T2). METHODS: Skin samples of 61 neonates and 34 adults were analyzed for protein biomarkers, natural moisturizing factor (NMF), and biophysical parameters. Infant groups were: <34 weeks (PT), 34–<37 weeks (LPT), and ≥37 weeks (FT). RESULTS: Forty proteins were differentially expressed in FT infant skin, 38 in LPT infant skin, and 12 in PT infant skin compared with adult skin at T1. At T2, 40 proteins were differentially expressed in FT infants, 38 in LPT infants, and 54 in PT infants compared with adults. All proteins were increased at both times, except TMG3, S100A7, and PEBP1, and decreased in PTs at T1. The proteins are involved in filaggrin processing, protease inhibition/enzyme regulation, and antimicrobial function. Eight proteins were decreased in PT skin compared with FT skin at T1. LPT and FT proteins were generally comparable at both times. Total NMF was lower in infants than adults at T1, but higher in infants at T2. CONCLUSIONS: Neonates respond to the physiological transitions at birth by upregulating processes that drive the production of lower pH of the skin and water-binding NMF components, prevent protease activity leading to desquamation, and increase the 1234567890();,: barrier antimicrobial properties. -
Tooth Enamel and Its Dynamic Protein Matrix
International Journal of Molecular Sciences Review Tooth Enamel and Its Dynamic Protein Matrix Ana Gil-Bona 1,2,* and Felicitas B. Bidlack 1,2,* 1 The Forsyth Institute, Cambridge, MA 02142, USA 2 Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA 02115, USA * Correspondence: [email protected] (A.G.-B.); [email protected] (F.B.B.) Received: 26 May 2020; Accepted: 20 June 2020; Published: 23 June 2020 Abstract: Tooth enamel is the outer covering of tooth crowns, the hardest material in the mammalian body, yet fracture resistant. The extremely high content of 95 wt% calcium phosphate in healthy adult teeth is achieved through mineralization of a proteinaceous matrix that changes in abundance and composition. Enamel-specific proteins and proteases are known to be critical for proper enamel formation. Recent proteomics analyses revealed many other proteins with their roles in enamel formation yet to be unraveled. Although the exact protein composition of healthy tooth enamel is still unknown, it is apparent that compromised enamel deviates in amount and composition of its organic material. Why these differences affect both the mineralization process before tooth eruption and the properties of erupted teeth will become apparent as proteomics protocols are adjusted to the variability between species, tooth size, sample size and ephemeral organic content of forming teeth. This review summarizes the current knowledge and published proteomics data of healthy and diseased tooth enamel, including advancements in forensic applications and disease models in animals. A summary and discussion of the status quo highlights how recent proteomics findings advance our understating of the complexity and temporal changes of extracellular matrix composition during tooth enamel formation. -
Ageing-Associated Changes in DNA Methylation in X and Y Chromosomes
Kananen and Marttila Epigenetics & Chromatin (2021) 14:33 Epigenetics & Chromatin https://doi.org/10.1186/s13072-021-00407-6 RESEARCH Open Access Ageing-associated changes in DNA methylation in X and Y chromosomes Laura Kananen1,2,3,4* and Saara Marttila4,5* Abstract Background: Ageing displays clear sexual dimorphism, evident in both morbidity and mortality. Ageing is also asso- ciated with changes in DNA methylation, but very little focus has been on the sex chromosomes, potential biological contributors to the observed sexual dimorphism. Here, we sought to identify DNA methylation changes associated with ageing in the Y and X chromosomes, by utilizing datasets available in data repositories, comprising in total of 1240 males and 1191 females, aged 14–92 years. Results: In total, we identifed 46 age-associated CpG sites in the male Y, 1327 age-associated CpG sites in the male X, and 325 age-associated CpG sites in the female X. The X chromosomal age-associated CpGs showed signifcant overlap between females and males, with 122 CpGs identifed as age-associated in both sexes. Age-associated X chro- mosomal CpGs in both sexes were enriched in CpG islands and depleted from gene bodies and showed no strong trend towards hypermethylation nor hypomethylation. In contrast, the Y chromosomal age-associated CpGs were enriched in gene bodies, and showed a clear trend towards hypermethylation with age. Conclusions: Signifcant overlap in X chromosomal age-associated CpGs identifed in males and females and their shared features suggest that despite the uneven chromosomal dosage, diferences in ageing-associated DNA methylation changes in the X chromosome are unlikely to be a major contributor of sex dimorphism in ageing. -
Control Association Study of PADI2 with Schizophrenia
Journal of Human Genetics (2009) 54, 430–432 & 2009 The Japan Society of Human Genetics All rights reserved 1434-5161/09 $32.00 www.nature.com/jhg SHORT COMMUNICATION A two-stage case–control association study of PADI2 with schizophrenia Yuichiro Watanabe1,2, Ayako Nunokawa1, Naoshi Kaneko1, Tadao Arinami3, Hiroshi Ujike4, Toshiya Inada5, Nakao Iwata6, Hiroshi Kunugi7, Masanari Itokawa8, Takeshi Otowa9, Norio Ozaki10 and Toshiyuki Someya1 Peptidylarginine deiminases (PADIs), five isoforms of which have been identified, catalyze the conversion of arginine residues to citrulline residues in proteins. Recent studies have revealed that abnormal activation of PADI2, the gene for which is expressed throughout the nervous system, is likely to be related to the pathogenesis of neuropsychiatric diseases with neurodegenerative processes, such as Alzheimer’s disease and multiple sclerosis. Such a progressive neurodegenerative process could be involved in the etiology and/or course of schizophrenia, and PADI2 may be a candidate gene for schizophrenia. To assess whether PADI2 has a role in vulnerability to schizophrenia, we conducted a two-stage case–control association study in Japanese individuals. In a screening population of 534 patients and 559 control individuals, we examined eight single-nucleotide polymorphisms (SNPs) including four haplotype tag SNPs and four coding SNPs in PADI2. There was a potential association of a synonymous SNP in exon 7 with schizophrenia. However, we could not replicate this association in a confirmatory population of 2126 patients and 2228 control individuals. The results of this study suggest that PADI2 does not contribute to genetic susceptibility to schizophrenia. Journal of Human Genetics (2009) 54, 430–432; doi:10.1038/jhg.2009.52; published online 29 May 2009 Keywords: case–control study; Japanese; PADI2; schizophrenia; single-nucleotide polymorphism Schizophrenia is a complex genetic disorder that affects approximately performed a two-stage case–control association study in Japanese 1% of the population worldwide. -
Mapping of Quantitative Trait Loci for Milk Yield Traits on Bovine Chromosome 5 in the Fleckvieh Cattle
From the Department of Veterinary Sciences Faculty of Veterinary Medicine Ludwig-Maximilians-Universität München Arbeit angefertigt unter der Leitung von Univ. Prof. Dr. Dr. habil. Martin Förster Mapping of Quantitative Trait Loci for Milk Yield Traits on Bovine Chromosome 5 in the Fleckvieh Cattle Inaugural–Dissertation For the attainment of Doctor Degree in Veterinary Medicine From the Faculty of Veterinary Medicine of the Ludwig-Maximilians-Universität München by Ashraf Fathy Said Awad from Sharkia- Egypt München 2011 Gedruckt mit Genehmigung der Tierärztlichen Fakultät der Ludwig–Maximilians–Universität München Dekan: Univ. Prof. Dr. Braun Berichterstatter: Univ. Prof. Dr. Dr. habil Förster Korreferent: Univ. Prof. Dr. Mansfeld Tag der Promotion: 12. February 2011 This work is dedicated to My Parents, my wife and my lovely daughters; Sama, Shaza, Hana CONTENTS CONTENTS ABBREVIATION……………………………………………………………… IV CHAPTER 1: GENERAL INTRODUCTION……………………………….. 1 CHAPTER 2: REVIEW OF LITERATURE………………………………… 3 2.1. DNA Markers……………………………………………………….. 3 2.1.1. Microsatellites………………………………………………………….. 3 2.1.2. Single Nucleotide Polymorphism (SNPs)…………………………… 4 2.2. Mapping of Quantitative Trait Loci (QTL)…………………….. 5 2.2.1. QTL Mapping Designs………………………………………………... 6 2.2.1.1. Daughter Design………………………………………………... 6 2.2.1.2. Granddaughter Design………………………………………… 7 2.2.1.3. Complex Pedigree Design…………………………………….. 9 2.2.2. QTL Mapping Strategies……………………………………………… 10 2.2.2.1. Candidate Gene Approach……………………………………. 10 2.2.2.2. Genome Scan Approach……………………………………… 11 2.3. Principles of Linkage Mapping…………………………………. 12 2.4. QTL Fine Mapping………………………………………………… 14 2.4.1. Linkage Disequilibrium……………………………………………… 15 2.4.2. Combined Linkage Disequilibrium and Linkage (LDL) Mapping… 17 2.5. Identification of Candidate Genes……………………………… 18 2.6. -
Cellular and Molecular Signatures in the Disease Tissue of Early
Cellular and Molecular Signatures in the Disease Tissue of Early Rheumatoid Arthritis Stratify Clinical Response to csDMARD-Therapy and Predict Radiographic Progression Frances Humby1,* Myles Lewis1,* Nandhini Ramamoorthi2, Jason Hackney3, Michael Barnes1, Michele Bombardieri1, Francesca Setiadi2, Stephen Kelly1, Fabiola Bene1, Maria di Cicco1, Sudeh Riahi1, Vidalba Rocher-Ros1, Nora Ng1, Ilias Lazorou1, Rebecca E. Hands1, Desiree van der Heijde4, Robert Landewé5, Annette van der Helm-van Mil4, Alberto Cauli6, Iain B. McInnes7, Christopher D. Buckley8, Ernest Choy9, Peter Taylor10, Michael J. Townsend2 & Costantino Pitzalis1 1Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK. Departments of 2Biomarker Discovery OMNI, 3Bioinformatics and Computational Biology, Genentech Research and Early Development, South San Francisco, California 94080 USA 4Department of Rheumatology, Leiden University Medical Center, The Netherlands 5Department of Clinical Immunology & Rheumatology, Amsterdam Rheumatology & Immunology Center, Amsterdam, The Netherlands 6Rheumatology Unit, Department of Medical Sciences, Policlinico of the University of Cagliari, Cagliari, Italy 7Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow G12 8TA, UK 8Rheumatology Research Group, Institute of Inflammation and Ageing (IIA), University of Birmingham, Birmingham B15 2WB, UK 9Institute of -
Amelogenin Gene Influence on Enamel Defects of Cleft Lip and Palate Patients
ORIGINAL RESEARCH Genetic and Molecular Biology Amelogenin gene influence on enamel defects of cleft lip and palate patients Abstract: The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip Fernanda Veronese OLIVEIRA(a) Thiago José DIONÍSIO(b) and palate (CLP) and enamel defects (ED). A total of 165 patients were Lucimara Teixeira NEVES(b) divided into four groups: with CLP and ED (n=46), with CLP and with- Maria Aparecida Andrade out ED (n = 34), without CLP and with ED (n = 34), and without CLP Moreira MACHADO(a) Carlos Ferreira SANTOS(b) or ED (n = 51). Genomic DNA was extracted from saliva followed by Thais Marchini OLIVEIRA(a) conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), (a) Department of Pediatric Dentistry, 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, Orthodontics and Community Health, Bauru 3 and 4, respectively. Thirty seven mutations were detected and distrib- School of Dentistry, University of São Paulo, Bauru, SP, Brazil. uted throughout exons 2 (1 mutation – 2.7%), 6 (30 mutations – 81.08%) and 7 (6 mutations – 16.22%) of AMELX. No mutations were found in (b) Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), Bauru, SP, Brazil. 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. -
Deimination, Intermediate Filaments and Associated Proteins
International Journal of Molecular Sciences Review Deimination, Intermediate Filaments and Associated Proteins Julie Briot, Michel Simon and Marie-Claire Méchin * UDEAR, Institut National de la Santé Et de la Recherche Médicale, Université Toulouse III Paul Sabatier, Université Fédérale de Toulouse Midi-Pyrénées, U1056, 31059 Toulouse, France; [email protected] (J.B.); [email protected] (M.S.) * Correspondence: [email protected]; Tel.: +33-5-6115-8425 Received: 27 October 2020; Accepted: 16 November 2020; Published: 19 November 2020 Abstract: Deimination (or citrullination) is a post-translational modification catalyzed by a calcium-dependent enzyme family of five peptidylarginine deiminases (PADs). Deimination is involved in physiological processes (cell differentiation, embryogenesis, innate and adaptive immunity, etc.) and in autoimmune diseases (rheumatoid arthritis, multiple sclerosis and lupus), cancers and neurodegenerative diseases. Intermediate filaments (IF) and associated proteins (IFAP) are major substrates of PADs. Here, we focus on the effects of deimination on the polymerization and solubility properties of IF proteins and on the proteolysis and cross-linking of IFAP, to finally expose some features of interest and some limitations of citrullinomes. Keywords: citrullination; post-translational modification; cytoskeleton; keratin; filaggrin; peptidylarginine deiminase 1. Introduction Intermediate filaments (IF) constitute a unique macromolecular structure with a diameter (10 nm) intermediate between those of actin microfilaments (6 nm) and microtubules (25 nm). In humans, IF are found in all cell types and organize themselves into a complex network. They play an important role in the morphology of a cell (including the nucleus), are essential to its plasticity, its mobility, its adhesion and thus to its function. -
Slitrks Control Excitatory and Inhibitory Synapse Formation with LAR
Slitrks control excitatory and inhibitory synapse SEE COMMENTARY formation with LAR receptor protein tyrosine phosphatases Yeong Shin Yima,1, Younghee Kwonb,1, Jungyong Namc, Hong In Yoona, Kangduk Leeb, Dong Goo Kima, Eunjoon Kimc, Chul Hoon Kima,2, and Jaewon Kob,2 aDepartment of Pharmacology, Brain Research Institute, Brain Korea 21 Project for Medical Science, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul 120-752, Korea; bDepartment of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul 120-749, Korea; and cCenter for Synaptic Brain Dysfunctions, Institute for Basic Science, Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea Edited by Thomas C. Südhof, Stanford University School of Medicine, Stanford, CA, and approved December 26, 2012 (received for review June 11, 2012) The balance between excitatory and inhibitory synaptic inputs, share a similar domain organization comprising three Ig domains which is governed by multiple synapse organizers, controls neural and four to eight fibronectin type III repeats. LAR-RPTP family circuit functions and behaviors. Slit- and Trk-like proteins (Slitrks) are members are evolutionarily conserved and are functionally required a family of synapse organizers, whose emerging synaptic roles are for axon guidance and synapse formation (15). Recent studies have incompletely understood. Here, we report that Slitrks are enriched shown that netrin-G ligand-3 (NGL-3), neurotrophin receptor ty- in postsynaptic densities in rat brains. Overexpression of Slitrks rosine kinase C (TrkC), and IL-1 receptor accessory protein-like 1 promoted synapse formation, whereas RNAi-mediated knock- (IL1RAPL1) bind to all three LAR-RPTP family members or dis- down of Slitrks decreased synapse density. -
Citrullination of Histone H3 Drives IL-6 Production by Bone Marrow Mesenchymal Stem Cells in MGUS and Multiple Myeloma
OPEN Leukemia (2017) 31, 373–381 www.nature.com/leu ORIGINAL ARTICLE Citrullination of histone H3 drives IL-6 production by bone marrow mesenchymal stem cells in MGUS and multiple myeloma G McNee1, KL Eales1,WWei2, DS Williams2, A Barkhuizen3, DB Bartlett2, S Essex2, S Anandram3, A Filer4, PAH Moss4, G Pratt2,5, S Basu3,6, CC Davies2,6 and DA Tennant1 Multiple myeloma (MM), an incurable plasma cell malignancy, requires localisation within the bone marrow. This microenvironment facilitates crucial interactions between the cancer cells and stromal cell types that permit the tumour to survive and proliferate. There is increasing evidence that the bone marrow mesenchymal stem cell (BMMSC) is stably altered in patients with MM—a phenotype also postulated to exist in patients with monoclonal gammopathy of undetermined significance (MGUS) a benign condition that precedes MM. In this study, we describe a mechanism by which increased expression of peptidyl arginine deiminase 2 (PADI2) by BMMSCs in patients with MGUS and MM directly alters malignant plasma cell phenotype. We identify PADI2 as one of the most highly upregulated transcripts in BMMSCs from both MGUS and MM patients, and that through its enzymatic deimination of histone H3 arginine 26, PADI2 activity directly induces the upregulation of interleukin-6 expression. This leads to the acquisition of resistance to the chemotherapeutic agent, bortezomib, by malignant plasma cells. We therefore describe a novel mechanism by which BMMSC dysfunction in patients with MGUS and MM directly leads to pro-malignancy signalling through the citrullination of histone H3R26. Leukemia (2017) 31, 373–381; doi:10.1038/leu.2016.187 INTRODUCTION lesions.12 The phenotypic changes resulting from this altered Multiple myeloma (MM) is a malignant disease of plasma cells transcriptome appear to permit increased stromal support of the within the bone marrow that, despite improving survival, remains malignant plasma cell, and decreased osteoblastic differentiated – incurable meaning an urgent requirement for novel therapies.