WO 2013/022995 A2 14 February 2013 (14.02.2013) P O P C T
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Sequence Overlap Between Autosomal and Sex-Linked Probes on the Illumina Humanmethylation27 Microarray
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Genomics 97 (2011) 214–222 Contents lists available at ScienceDirect Genomics journal homepage: www.elsevier.com/locate/ygeno Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray Yi-an Chen a,b, Sanaa Choufani a, Jose Carlos Ferreira a,b, Daria Grafodatskaya a, Darci T. Butcher a, Rosanna Weksberg a,b,⁎ a Program in Genetics and Genome Biology, Hospital for Sick Children Research Institute, Toronto, Ontario, Canada b Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada article info abstract Article history: The Illumina Infinium HumanMethylation27 BeadChip (Illumina 27k) microarray is a high-throughput Received 12 August 2010 platform capable of interrogating the human DNA methylome. In a search for autosomal sex-specific DNA Accepted 18 December 2010 methylation using this microarray, we discovered autosomal CpG loci showing significant methylation Available online 4 January 2011 differences between the sexes. However, we found that the majority of these probes cross-reacted with sequences from sex chromosomes. Moreover, we determined that 6–10% of the microarray probes are non- Keywords: specific and map to highly homologous genomic sequences. Using probes targeting different CpGs that are Illumina Infinium HumanMethylation 27 BeadChip exact duplicates of each other, we investigated the precision of these repeat measurements and concluded Non-specific cross-reactive probe that the overall precision of this microarray is excellent. In addition, we identified a small number of probes Sex-specific DNA methylation targeting CpGs that include single-nucleotide polymorphisms. -
Supporting Information
Supporting Information Mulders et al. 10.1073/pnas.0905780106 SI Materials and Methods in Opti-MEM (Invitrogen) to myoblasts, in both cases at a final Animals. Hemizygous DM500 mice, derived from the DM300– oligo concentration of 200 nM. Fresh medium was supplemented 328 line (1), express a transgenic human DM1 locus, which bears after 4 hours. After 24 h, medium was changed. RNA was a repeat segment that has expanded to Ϸ500 CTG triplets, isolated 48 h after transfection. because of intergenerational triplet-repeat instability. For the isolation of immortal DM500 myoblasts, DM500 mice were RNA Isolation. Typically, RNA from cultured cells was isolated crossed with H-2Kb-tsA58 transgenic mice (2). Homozygous using the Aurum Total RNA mini kit (guanidine-HCl/ HSALR20b mice express a (CUG)250 segment in the context of mercaptoethanol-based lysis, silica membrane binding; Bio- a human skeletal actin transcript (3). All animal experiments Rad), according to the manufacturer’s protocol. RNA from were approved by the Institutional Animal Care and Use Com- muscle tissue was isolated using TRIzol reagent (Invitrogen). mittees of the Radboud University Nijmegen and the University Alternative methods to isolate RNA from cultured cells in- of Rochester Medical Center. volved: (i) use of the TRIzol reagent, according to the manu- facturer’s protocol; (ii) an oligo(dT) affinity column (Nucleo- Cell Culture. An immortal mouse myoblast cell culture expressing Trap mRNA mini kit; Macherey-Nagel) for the isolation of hDMPK (CUG)500 transcripts was derived from GPS tissue poly(A) RNA; or (iii) a TRIzol procedure preceded by a isolated from DM500 mice additionally expressing 1 copy of the proteinase K digestion of the whole cell lysate (7): in short, cells H-2Kb-tsA58 allele (4). -
A Computational Approach for Defining a Signature of Β-Cell Golgi Stress in Diabetes Mellitus
Page 1 of 781 Diabetes A Computational Approach for Defining a Signature of β-Cell Golgi Stress in Diabetes Mellitus Robert N. Bone1,6,7, Olufunmilola Oyebamiji2, Sayali Talware2, Sharmila Selvaraj2, Preethi Krishnan3,6, Farooq Syed1,6,7, Huanmei Wu2, Carmella Evans-Molina 1,3,4,5,6,7,8* Departments of 1Pediatrics, 3Medicine, 4Anatomy, Cell Biology & Physiology, 5Biochemistry & Molecular Biology, the 6Center for Diabetes & Metabolic Diseases, and the 7Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202; 2Department of BioHealth Informatics, Indiana University-Purdue University Indianapolis, Indianapolis, IN, 46202; 8Roudebush VA Medical Center, Indianapolis, IN 46202. *Corresponding Author(s): Carmella Evans-Molina, MD, PhD ([email protected]) Indiana University School of Medicine, 635 Barnhill Drive, MS 2031A, Indianapolis, IN 46202, Telephone: (317) 274-4145, Fax (317) 274-4107 Running Title: Golgi Stress Response in Diabetes Word Count: 4358 Number of Figures: 6 Keywords: Golgi apparatus stress, Islets, β cell, Type 1 diabetes, Type 2 diabetes 1 Diabetes Publish Ahead of Print, published online August 20, 2020 Diabetes Page 2 of 781 ABSTRACT The Golgi apparatus (GA) is an important site of insulin processing and granule maturation, but whether GA organelle dysfunction and GA stress are present in the diabetic β-cell has not been tested. We utilized an informatics-based approach to develop a transcriptional signature of β-cell GA stress using existing RNA sequencing and microarray datasets generated using human islets from donors with diabetes and islets where type 1(T1D) and type 2 diabetes (T2D) had been modeled ex vivo. To narrow our results to GA-specific genes, we applied a filter set of 1,030 genes accepted as GA associated. -
Radial Glia Reveal Complex Regulation by the Neuropeptide Secretoneurin
Transcriptomic and proteomic characterizations of goldfish (Carassius auratus) radial glia reveal complex regulation by the neuropeptide secretoneurin Dillon Da Fonte Thesis submitted to the Faculty of Graduate and Postdoctoral Studies University of Ottawa in partial fulfillment of the requirements for the Master of Science degree in biology Department of Biology Faculty of Science University of Ottawa © Dillon Da Fonte, Ottawa, Canada, 2016 Acknowledgements Finishing this thesis has been both a challenging and rewarding experience. This accomplishment would not have been possible without the never-ending support of colleagues, friends, family. First, I would like to express my most sincere gratitude to my supervisor and mentor, Dr. Vance Trudeau. Thank you for the opportunities you have given me, this experience has truly solidified my passion for research. I appreciate our many conversations that were enjoyed over a beer – it was truly a memorable experience. I would also like to thank my M.Sc. advisory committee, Dr. Michael Jonz and Dr. Marc Ekker for your time and insightful comments. A special thank you to Dr. Chris Martynuik who taught me the bioinformatics needed to analyze both transcriptomic and proteomic data and for all your help during my time at the University of Florida. I would like to also acknowledge my funding support from University of Ottawa, NSERC, and the Michael Smith Foreign Study Award for supporting my research stay at the University of Florida. To all current and past members of TeamENDO, thank you for the sense of community you all instilled in the lab. Both inside and outside the lab, I have made memories with all of you that I will cherish forever. -
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Patterns of DNA methylation on the human X chromosome and use in analyzing X-chromosome inactivation by Allison Marie Cotton B.Sc., The University of Guelph, 2005 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY in The Faculty of Graduate Studies (Medical Genetics) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) January 2012 © Allison Marie Cotton, 2012 Abstract The process of X-chromosome inactivation achieves dosage compensation between mammalian males and females. In females one X chromosome is transcriptionally silenced through a variety of epigenetic modifications including DNA methylation. Most X-linked genes are subject to X-chromosome inactivation and only expressed from the active X chromosome. On the inactive X chromosome, the CpG island promoters of genes subject to X-chromosome inactivation are methylated in their promoter regions, while genes which escape from X- chromosome inactivation have unmethylated CpG island promoters on both the active and inactive X chromosomes. The first objective of this thesis was to determine if the DNA methylation of CpG island promoters could be used to accurately predict X chromosome inactivation status. The second objective was to use DNA methylation to predict X-chromosome inactivation status in a variety of tissues. A comparison of blood, muscle, kidney and neural tissues revealed tissue-specific X-chromosome inactivation, in which 12% of genes escaped from X-chromosome inactivation in some, but not all, tissues. X-linked DNA methylation analysis of placental tissues predicted four times higher escape from X-chromosome inactivation than in any other tissue. Despite the hypomethylation of repetitive elements on both the X chromosome and the autosomes, no changes were detected in the frequency or intensity of placental Cot-1 holes. -
Human and Chimpanzee Chorionic Gonadotropin Beta Genes Pille Hallast1, Janna Saarela2, Aarno Palotie3,4,5 and Maris Laan*1
BMC Evolutionary Biology BioMed Central Research article Open Access High divergence in primate-specific duplicated regions: Human and chimpanzee Chorionic Gonadotropin Beta genes Pille Hallast1, Janna Saarela2, Aarno Palotie3,4,5 and Maris Laan*1 Address: 1Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Riia 23, 51010 Tartu, Estonia, 2Department of Molecular Medicine, National Public Health Institute, Haartmaninkatu 8, 00290 Helsinki, Finland, 3Finnish Genome Center, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland, 4The Broad Institute of Harvard and MIT, Cambridge Center, Cambridge, MA 02142, USA and 5Wellcome Trust Sanger Institute, Hinxton, Cambridge, CB10 1SA, UK Email: Pille Hallast - [email protected]; Janna Saarela - [email protected]; Aarno Palotie - [email protected]; Maris Laan* - [email protected] * Corresponding author Published: 7 July 2008 Received: 29 August 2007 Accepted: 7 July 2008 BMC Evolutionary Biology 2008, 8:195 doi:10.1186/1471-2148-8-195 This article is available from: http://www.biomedcentral.com/1471-2148/8/195 © 2008 Hallast et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Background: Low nucleotide divergence between human and chimpanzee does not sufficiently explain the species-specific morphological, physiological and behavioral traits. As gene duplication is a major prerequisite for the emergence of new genes and novel biological processes, comparative studies of human and chimpanzee duplicated genes may assist in understanding the mechanisms behind primate evolution. -
Karla Alejandra Vizcarra Zevallos Análise Da Função De Genes
Karla Alejandra Vizcarra Zevallos Análise da função de genes candidatos à manutenção da inativação do cromossomo X em humanos Dissertação apresentada ao Pro- grama de Pós‐Graduação Inter- unidades em Biotecnologia USP/ Instituto Butantan/ IPT, para obtenção do Título de Mestre em Ciências. São Paulo 2017 Karla Alejandra Vizcarra Zevallos Análise da função de genes candidatos à manutenção da inativação do cromossomo X em humanos Dissertação apresentada ao Pro- grama de Pós‐Graduação Inter- unidades em Biotecnologia do Instituto de Ciências Biomédicas USP/ Instituto Butantan/ IPT, para obtenção do Título de Mestre em Ciências. Área de concentração: Biotecnologia Orientadora: Profa. Dra. Lygia da Veiga Pereira Carramaschi Versão corrigida. A versão original eletrônica encontra-se disponível tanto na Biblioteca do ICB quanto na Biblioteca Digital de Teses e Dissertações da USP (BDTD) São Paulo 2017 UNIVERSIDADE DE SÃO PAULO Programa de Pós-Graduação Interunidades em Biotecnologia Universidade de São Paulo, Instituto Butantan, Instituto de Pesquisas Tecnológicas Candidato(a): Karla Alejandra Vizcarra Zevallos Título da Dissertação: Análise da função de genes candidatos à manutenção da inativação do cromossomo X em humanos Orientador: Profa. Dra. Lygia da Veiga Pereira Carramaschi A Comissão Julgadora dos trabalhos de Defesa da Dissertação de Mestrado, em sessão pública realizada a ........./......../.........., considerou o(a) candidato(a): ( ) Aprovado(a) ( ) Reprovado(a) Examinador(a): Assinatura: .............................................................................. -
WO 2012/174282 A2 20 December 2012 (20.12.2012) P O P C T
(12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date WO 2012/174282 A2 20 December 2012 (20.12.2012) P O P C T (51) International Patent Classification: David [US/US]; 13539 N . 95th Way, Scottsdale, AZ C12Q 1/68 (2006.01) 85260 (US). (21) International Application Number: (74) Agent: AKHAVAN, Ramin; Caris Science, Inc., 6655 N . PCT/US20 12/0425 19 Macarthur Blvd., Irving, TX 75039 (US). (22) International Filing Date: (81) Designated States (unless otherwise indicated, for every 14 June 2012 (14.06.2012) kind of national protection available): AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BR, BW, BY, BZ, English (25) Filing Language: CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, Publication Language: English DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, (30) Priority Data: KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, 61/497,895 16 June 201 1 (16.06.201 1) US MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, 61/499,138 20 June 201 1 (20.06.201 1) US OM, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SC, SD, 61/501,680 27 June 201 1 (27.06.201 1) u s SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, 61/506,019 8 July 201 1(08.07.201 1) u s TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. -
The Study of the Expression of CGB1 and CGB2 in Human Cancer Tissues
G C A T T A C G G C A T genes Article The Study of the Expression of CGB1 and CGB2 in Human Cancer Tissues Piotr Białas * , Aleksandra Sliwa´ y , Anna Szczerba y and Anna Jankowska Department of Cell Biology, Poznan University of Medical Sciences, Rokietnicka 5D, 60-806 Pozna´n,Poland; [email protected] (A.S.);´ [email protected] (A.S.); [email protected] (A.J.) * Correspondence: [email protected]; Tel.: +48-6185-4-71-89 These authors contributed equally to this work. y Received: 14 August 2020; Accepted: 15 September 2020; Published: 17 September 2020 Abstract: Human chorionic gonadotropin (hCG) is a well-known hormone produced by the trophoblast during pregnancy as well as by both trophoblastic and non-trophoblastic tumors. hCG is built from two subunits: α (hCGα) and β (hCGβ). The hormone-specific β subunit is encoded by six allelic genes: CGB3, CGB5, CGB6, CGB7, CGB8, and CGB9, mapped to the 19q13.32 locus. This gene cluster also encompasses the CGB1 and CGB2 genes, which were originally considered to be pseudogenes, but as documented by several studies are transcriptionally active. Even though the protein products of these genes have not yet been identified, based on The Cancer Genome Atlas (TCGA) database analysis we showed that the mutual presence of CGB1 and CGB2 transcripts is a characteristic feature of cancers of different origin, including bladder urothelial carcinoma, cervical squamous cell carcinoma, esophageal carcinoma, head and neck squamous cell carcinoma, ovarian serous cystadenocarcinoma, lung squamous cell carcinoma, pancreatic adenocarcinoma, rectum adenocacinoma, testis germ cell tumors, thymoma, uterine corpus endometrial carcinoma and uterine carcinosarcoma. -
Co-Expression Network of Neural-Differentiation Genes Shows
Maschietto et al. BMC Medical Genomics (2015) 8:23 DOI 10.1186/s12920-015-0098-9 RESEARCH ARTICLE Open Access Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia Mariana Maschietto1,2†, Ana C Tahira1,2†, Renato Puga3, Leandro Lima4, Daniel Mariani4, Bruna da Silveira Paulsen5, Paulo Belmonte-de-Abreu6, Henrique Vieira4, Ana CV Krepischi7, Dirce M Carraro8, Joana A Palha9,10, Stevens Rehen5,11 and Helena Brentani1,2,12,13* Abstract Background: Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors contributing to its pathogenesis, although the mechanism is unknown due to the difficulties in accessing diseased tissue during human neurodevelopment. The aim of this study was to find neuronal differentiation genes disrupted in schizophrenia and to evaluate those genes in post-mortem brain tissues from schizophrenia cases and controls. Methods: We analyzed differentially expressed genes (DEG), copy number variation (CNV) and differential methylation in human induced pluripotent stem cells (hiPSC) derived from fibroblasts from one control and one schizophrenia patient and further differentiated into neuron (NPC). Expression of the DEG were analyzed with microarrays of post-mortem brain tissue (frontal cortex) cohort of 29 schizophrenia cases and 30 controls. A Weighted Gene Co-expression Network Analysis (WGCNA) using the DEG was used to detect clusters of co-expressed genes that werenon-conserved between adult cases and controls brain samples. Results: We identified methylation alterations potentially involved with neuronal differentiation in schizophrenia, which displayed an over-representation of genes related to chromatin remodeling complex (adjP = 0.04). We found 228 DEG associated with neuronal differentiation. -
Function of Armcx3 and Armc10/SVH Genes in the Regulation of Progenitor Proliferation and Neural Differentiation in the Chicken Spinal Cord
ORIGINAL RESEARCH published: 03 March 2016 doi: 10.3389/fncel.2016.00047 Function of Armcx3 and Armc10/SVH Genes in the Regulation of Progenitor Proliferation and Neural Differentiation in the Chicken Spinal Cord Serena Mirra 1, 2, Fausto Ulloa 1, 2, Irene Gutierrez-Vallejo 3, Elisa Martì 3 and Eduardo Soriano 1, 2, 4, 5* 1 Department of Cell Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain, 2 Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Madrid, Spain, 3 Instituto de Biología Molecular de Barcelona, Consejo Superior de Investigaciones Científicas, ParcCientífic de Barcelona, Barcelona, Spain, 4 Valld’Hebron Institute of Research, Barcelona, Spain, 5 Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain The eutherian X-chromosome specific family of Armcx genes has been described as originating by retrotransposition from Armc10/SVH, a single Arm-containing somatic gene. Armcx3 and Armc10/SVH are characterized by high expression in the central nervous system and they play an important role in the regulation of mitochondrial distribution and transport in neurons. In addition, Armcx/Arm10 genes have several Armadillo repeats in their sequence. In this study we address the potential role of this gene family in neural development by using the chick neural tube as a model. We Edited by: show that Armc10/SVH is expressed in the chicken spinal cord, and knocking-down Christian Hansel, Armc10/SVH by sh-RNAi electroporation in spinal cord reduces proliferation of neural University of Chicago, USA precursor cells (NPCs). Moreover, we analyzed the effects of murine Armcx3 and Reviewed by: Hideko Sone, Armc10 overexpression, showing that both proteins regulate progenitor proliferation, National Institute for Environmental while Armcx3 overexpression also specifically controls neural maturation. -
Translational Profiling Reveals the Transcriptome of Leptin Receptor Neurons and Its Regulation by Leptin
TRANSLATIONAL PROFILING REVEALS THE TRANSCRIPTOME OF LEPTIN RECEPTOR NEURONS AND ITS REGULATION BY LEPTIN by Margaret B. Allison A dissertation submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy (Molecular and Integrative Physiology) In the University of Michigan 2015 Doctoral Committee: Professor Martin G. Myers Jr., Chair Associate Professor Carol F. Elias Professor Malcolm J. Low Professor Suzanne Moenter Professor Audrey Seasholtz Before you leave these portals To meet less fortunate mortals There's just one final message I would give to you: You all have learned reliance On the sacred teachings of science So I hope, through life, you never will decline In spite of philistine defiance To do what all good scientists do: Experiment! -- Cole Porter There is no cure for curiosity. -- unknown © Margaret Brewster Allison 2015 ACKNOWLEDGEMENTS If it takes a village to raise a child, it takes a research university to raise a graduate student. There are many people who have supported me over the past six years at Michigan, and it is hard to imagine pursuing my PhD without them. First and foremost among all the people I need to thank is my mentor, Martin. Nothing I might say here would ever suffice to cover the depth and breadth of my gratitude to him. Without his patience, his insight, and his at times insufferably positive outlook, I don’t know where I would be today. Martin supported my intellectual curiosity, honed my scientific inquiry, and allowed me to do some really fun research in his lab. It was a privilege and a pleasure to work for him and with him.