High Throughput Gene Expression Analysis Identifies Reliable Expression Markers of Human Corneal Endothelial Cells
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Retinoic Acid Induced 1 Gene Analysis in Humans and Zebrafish
Virginia Commonwealth University VCU Scholars Compass Theses and Dissertations Graduate School 2009 RETINOIC ACID INDUCED 1 GENE ANALYSIS IN HUMANS AND ZEBRAFISH Bijal Vyas Virginia Commonwealth University Follow this and additional works at: https://scholarscompass.vcu.edu/etd Part of the Medical Genetics Commons © The Author Downloaded from https://scholarscompass.vcu.edu/etd/1901 This Thesis is brought to you for free and open access by the Graduate School at VCU Scholars Compass. It has been accepted for inclusion in Theses and Dissertations by an authorized administrator of VCU Scholars Compass. For more information, please contact [email protected]. © Bijal Akshay Vyas, 2009 All Rights Reserved RETINOIC ACID INDUCED 1 GENE ANALYSIS IN HUMANS AND ZEBRAFISH A thesis submitted in partial fulfillment of the requirements for the degree of Master of Science at Virginia Commonwealth University. by BIJAL AKSHAY VYAS Bachelor of Biology North Carolina State University, 2007 Director: SARAH H. ELSEA Associate Professor, Department of Human and Molecular Genetics Department of Pediatrics Virginia Commonwealth University Richmond, Virginia August, 2009 Acknowledgement I would like to thank all the people who have supported and motivated me throughout my graduate studies. I had the great opportunity to work in Dr. Sarah Elsea‘s lab and I sincerely thank her for her willingness to help, patience and encouraging me after my failed experiments. I am also greatly thankful to Dr. Jim Lister for guiding and helping me every step of the way in finishing my zebrafish project. I also thank my third committee member, Dr. Andrew Davies for his project consultations, helpful alternatives and encouragement. -
Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-Like Mouse Models: Tracking the Role of the Hairless Gene
University of Tennessee, Knoxville TRACE: Tennessee Research and Creative Exchange Doctoral Dissertations Graduate School 5-2006 Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-like Mouse Models: Tracking the Role of the Hairless Gene Yutao Liu University of Tennessee - Knoxville Follow this and additional works at: https://trace.tennessee.edu/utk_graddiss Part of the Life Sciences Commons Recommended Citation Liu, Yutao, "Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino- like Mouse Models: Tracking the Role of the Hairless Gene. " PhD diss., University of Tennessee, 2006. https://trace.tennessee.edu/utk_graddiss/1824 This Dissertation is brought to you for free and open access by the Graduate School at TRACE: Tennessee Research and Creative Exchange. It has been accepted for inclusion in Doctoral Dissertations by an authorized administrator of TRACE: Tennessee Research and Creative Exchange. For more information, please contact [email protected]. To the Graduate Council: I am submitting herewith a dissertation written by Yutao Liu entitled "Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-like Mouse Models: Tracking the Role of the Hairless Gene." I have examined the final electronic copy of this dissertation for form and content and recommend that it be accepted in partial fulfillment of the requirements for the degree of Doctor of Philosophy, with a major in Life Sciences. Brynn H. Voy, Major Professor We have read this dissertation and recommend its acceptance: Naima Moustaid-Moussa, Yisong Wang, Rogert Hettich Accepted for the Council: Carolyn R. -
Transcriptional Regulation of RKIP in Prostate Cancer Progression
Health Science Campus FINAL APPROVAL OF DISSERTATION Doctor of Philosophy in Biomedical Sciences Transcriptional Regulation of RKIP in Prostate Cancer Progression Submitted by: Sandra Marie Beach In partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biomedical Sciences Examination Committee Major Advisor: Kam Yeung, Ph.D. Academic William Maltese, Ph.D. Advisory Committee: Sonia Najjar, Ph.D. Han-Fei Ding, M.D., Ph.D. Manohar Ratnam, Ph.D. Senior Associate Dean College of Graduate Studies Michael S. Bisesi, Ph.D. Date of Defense: May 16, 2007 Transcriptional Regulation of RKIP in Prostate Cancer Progression Sandra Beach University of Toledo ACKNOWLDEGMENTS I thank my major advisor, Dr. Kam Yeung, for the opportunity to pursue my degree in his laboratory. I am also indebted to my advisory committee members past and present, Drs. Sonia Najjar, Han-Fei Ding, Manohar Ratnam, James Trempe, and Douglas Pittman for generously and judiciously guiding my studies and sharing reagents and equipment. I owe extended thanks to Dr. William Maltese as a committee member and chairman of my department for supporting my degree progress. The entire Department of Biochemistry and Cancer Biology has been most kind and helpful to me. Drs. Roy Collaco and Hong-Juan Cui have shared their excellent technical and practical advice with me throughout my studies. I thank members of the Yeung laboratory, Dr. Sungdae Park, Hui Hui Tang, Miranda Yeung for their support and collegiality. The data mining studies herein would not have been possible without the helpful advice of Dr. Robert Trumbly. I am also grateful for the exceptional assistance and shared microarray data of Dr. -
A Gene-Level Methylome-Wide Association Analysis Identifies Novel
bioRxiv preprint doi: https://doi.org/10.1101/2020.07.13.201376; this version posted July 14, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 1 A gene-level methylome-wide association analysis identifies novel 2 Alzheimer’s disease genes 1 1 2 3 4 3 Chong Wu , Jonathan Bradley , Yanming Li , Lang Wu , and Hong-Wen Deng 1 4 Department of Statistics, Florida State University; 2 5 Department of Biostatistics & Data Science, University of Kansas Medical Center; 3 6 Population Sciences in the Pacific Program, University of Hawaii Cancer center; 4 7 Tulane Center for Biomedical Informatics and Genomics, Deming Department of Medicine, 8 Tulane University School of Medicine 9 Corresponding to: Chong Wu, Assistant Professor, Department of Statistics, Florida State 10 University, email: [email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/2020.07.13.201376; this version posted July 14, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. 11 Abstract 12 Motivation: Transcriptome-wide association studies (TWAS) have successfully facilitated the dis- 13 covery of novel genetic risk loci for many complex traits, including late-onset Alzheimer’s disease 14 (AD). However, most existing TWAS methods rely only on gene expression and ignore epige- 15 netic modification (i.e., DNA methylation) and functional regulatory information (i.e., enhancer- 16 promoter interactions), both of which contribute significantly to the genetic basis ofAD. -
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. -
Properties of Human Genes Guided by Their Enrichment in Rare and Common Variants
Properties of human genes guided by their enrichment in rare and common variants Authors: Eman Alhuzimi, Luis G. Leal, Michael J.E. Sternberg, Alessia David Affiliation: Structural Bioinformatics Group, Department of Life Sciences, Imperial College London, London, SW7 2AZ, UK SUPPLEMENTARY MATERIAL Construction of the dataset Genetic variants occurring in protein coding genes were extracted from ExAC (version 0.3, Release: 13-Jan-2015), UniProt (humsavar.txt, release: 04-Feb-2015) and ClinVar (release:7-Jan-2015). Variants were classified as ‘disease-causing’ if a disease association was reported in humsavar.txt or ClinVar. For variants reported in ClinVar, we defined the variant as disease-causing only if it was annotated as “pathogenic”. In order to avoid a potential bias, variants annotated as “likely pathogenic” were not included in the analysis. Variants were classified as ‘neutral’ when no association with disease was present (variants reported as “polymorphisms” in humsavar.txt and variants from ExAC, not reported as disease-causing in other databases). Non-disease variants were divided according to their global minor allele frequencies (MAF) into: ‘rare variants’ (MAF < 0.01) and ‘common variants’ (MAF ≥ 0.01). Global MAF data were extracted from Ensembl using the BioMart data-mining tool. We used the global MAF calculated in the ExAC project. For variants not reported in ExAC database we used the global MAF reported in dbSNP (which is calculated from the 1000Genomes project), when available. Variants with no MAF information or reported as “unclassified” in humsavar.txt, were not included in the analysis. When the gene enrichment analysis (described below) was performed, one gene overlapped between the disease- and rare- EVsets and three genes between the disease- and common- EVsets. -
4-6 Weeks Old Female C57BL/6 Mice Obtained from Jackson Labs Were Used for Cell Isolation
Methods Mice: 4-6 weeks old female C57BL/6 mice obtained from Jackson labs were used for cell isolation. Female Foxp3-IRES-GFP reporter mice (1), backcrossed to B6/C57 background for 10 generations, were used for the isolation of naïve CD4 and naïve CD8 cells for the RNAseq experiments. The mice were housed in pathogen-free animal facility in the La Jolla Institute for Allergy and Immunology and were used according to protocols approved by the Institutional Animal Care and use Committee. Preparation of cells: Subsets of thymocytes were isolated by cell sorting as previously described (2), after cell surface staining using CD4 (GK1.5), CD8 (53-6.7), CD3ε (145- 2C11), CD24 (M1/69) (all from Biolegend). DP cells: CD4+CD8 int/hi; CD4 SP cells: CD4CD3 hi, CD24 int/lo; CD8 SP cells: CD8 int/hi CD4 CD3 hi, CD24 int/lo (Fig S2). Peripheral subsets were isolated after pooling spleen and lymph nodes. T cells were enriched by negative isolation using Dynabeads (Dynabeads untouched mouse T cells, 11413D, Invitrogen). After surface staining for CD4 (GK1.5), CD8 (53-6.7), CD62L (MEL-14), CD25 (PC61) and CD44 (IM7), naïve CD4+CD62L hiCD25-CD44lo and naïve CD8+CD62L hiCD25-CD44lo were obtained by sorting (BD FACS Aria). Additionally, for the RNAseq experiments, CD4 and CD8 naïve cells were isolated by sorting T cells from the Foxp3- IRES-GFP mice: CD4+CD62LhiCD25–CD44lo GFP(FOXP3)– and CD8+CD62LhiCD25– CD44lo GFP(FOXP3)– (antibodies were from Biolegend). In some cases, naïve CD4 cells were cultured in vitro under Th1 or Th2 polarizing conditions (3, 4). -
Epigenome-Wide Exploratory Study of Monozygotic Twins Suggests Differentially Methylated Regions to Associate with Hand Grip Strength
Biogerontology (2019) 20:627–647 https://doi.org/10.1007/s10522-019-09818-1 (0123456789().,-volV)( 0123456789().,-volV) RESEARCH ARTICLE Epigenome-wide exploratory study of monozygotic twins suggests differentially methylated regions to associate with hand grip strength Mette Soerensen . Weilong Li . Birgit Debrabant . Marianne Nygaard . Jonas Mengel-From . Morten Frost . Kaare Christensen . Lene Christiansen . Qihua Tan Received: 15 April 2019 / Accepted: 24 June 2019 / Published online: 28 June 2019 Ó The Author(s) 2019 Abstract Hand grip strength is a measure of mus- significant CpG sites or pathways were found, how- cular strength and is used to study age-related loss of ever two of the suggestive top CpG sites were mapped physical capacity. In order to explore the biological to the COL6A1 and CACNA1B genes, known to be mechanisms that influence hand grip strength varia- related to muscular dysfunction. By investigating tion, an epigenome-wide association study (EWAS) of genomic regions using the comb-p algorithm, several hand grip strength in 672 middle-aged and elderly differentially methylated regions in regulatory monozygotic twins (age 55–90 years) was performed, domains were identified as significantly associated to using both individual and twin pair level analyses, the hand grip strength, and pathway analyses of these latter controlling the influence of genetic variation. regions revealed significant pathways related to the Moreover, as measurements of hand grip strength immune system, autoimmune disorders, including performed over 8 years were available in the elderly diabetes type 1 and viral myocarditis, as well as twins (age 73–90 at intake), a longitudinal EWAS was negative regulation of cell differentiation. -
Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17P11.2 and the Syntenic Region of the Mouse
Downloaded from genome.cshlp.org on September 25, 2021 - Published by Cold Spring Harbor Laboratory Press Article Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse Weimin Bi,1,6 Jiong Yan,1,6 Paweł Stankiewicz,1 Sung-Sup Park,1,7 Katherina Walz,1 Cornelius F. Boerkoel,1 Lorraine Potocki,1,3 Lisa G. Shaffer,1 Koen Devriendt,4 Małgorzata J.M. Nowaczyk,5 Ken Inoue,1 and James R. Lupski1,2,3,8 Departments of 1Molecular & Human Genetics, 2Pediatrics, Baylor College of Medicine, 3Texas Children’s Hospital, Houston, Texas 77030, USA; 4Centre for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, B-3000 Leuven, Belgium; 5Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario L8S 4J9, Canada Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with behavioral abnormalities and sleep disturbance. Most patients have the same ∼4 Mb interstitial genomic deletion within chromosome 17p11.2. To investigate the molecular bases of the SMS phenotype, we constructed BAC/PAC contigs covering the SMS common deletion interval and its syntenic region on mouse chromosome 11. Comparative genome analysis reveals the absence of all three ∼200-kb SMS-REP low-copy repeats in the mouse and indicates that the evolution of SMS-REPs was accompanied by transposition of adjacent genes. Physical and genetic map comparisons in humans reveal reduced recombination in both sexes. Moreover, by examining the deleted regions in SMS patients with unusual-sized deletions, we refined the minimal Smith-Magenis critical region (SMCR) to an ∼1.1-Mb genomic interval that is syntenic to an ∼1.0-Mb region in the mouse. -
Comparison of Orthologs Across Multiple Species by Various Strategies
COMPARISON OF ORTHOLOGS ACROSS MULTIPLE SPECIES BY VARIOUS STRATEGIES BY HUI LIU DISSERTATION Submitted in partial fulfillment of the requirements for the degree of Doctor of Philosophy in Biophysics and Computational Biology in the Graduate College of the University of Illinois at Urbana-Champaign, 2014 Urbana, Illinois Doctoral Committee: Professor Eric Jakobsson, Chair, Director of Research Professor Gene E. Robinson Associate Professor Saurabh Sinha Assistant Professor Jian Ma Abstract Thanks to the improvement of genome sequencing technology, abundant multi-species genomic data now became available and comparative genomics continues to be a fast prospering filed of biological research. Through the comparison of genomes of different organisms, we can understand what, at the molecular level, distinguishes different life forms from each other. It shed light on revealing the evolution of biology. And it also helps to refine the annotations and functions of individual genomes. For example, through comparisons across mammalian genomes, we can give an estimate of the conserved set of genes across mammals and correspondingly, find the species-specific sets of genes or functions. However, comparative genomics can be feasible only if a meaningful classification of genes exists. A natural way to do so is to delineate sets of orthologous genes. However, debates exist about the appropriate way to define orthologs. It is originally defined as genes in different species which derive from speciation events. But such definition is not sufficient to derive orthologous genes due to the complexity of evolutionary events such as gene duplication and gene loss. While it is possible to correctly figure out all the evolutionary events with the true phylogenetic tree, the true phylogenetic tree itself is impractical to be inferred. -
Large Meta-Analysis of Genome-Wide Association Studies
medRxiv preprint doi: https://doi.org/10.1101/2020.10.01.20200659; this version posted October 4, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license . Large meta-analysis of genome-wide association studies expands knowledge of the genetic etiology of Alzheimer’s disease and highlights potential translational opportunities Céline Bellenguez1,*,#, Fahri Küçükali2,3,4*, Iris Jansen5,6*, Victor Andrade7,8*, Sonia Morenau- Grau9,10,*, Najaf Amin11,12, Benjamin Grenier-Boley1, Anne Boland13, Luca Kleineidam7,8, Peter Holmans14, Pablo Garcia9,10, Rafael Campos Martin7, Adam Naj15,16, Yang Qiong17, Joshua C. Bis18, Vincent Damotte1, Sven Van der Lee5,6,19, Marcos Costa1, Julien Chapuis1, Vilmentas Giedraitis20, María Jesús Bullido10,21, Adolfo López de Munáin10,22, Jordi Pérez- Tur10,23, Pascual Sánchez-Juan10,24, Raquel Sánchez-Valle25, Victoria Álvarez26, Pau Pastor27, Miguel Medina10,28, Jasper Van Dongen2,3,4, Christine Van Broeckhoven2,3,4, Rik Vandenberghe29,30, Sebastiaan Engelborghs31,32, Gael Nicolas33, Florence Pasquier34, Olivier Hanon35, Carole Dufouil36, Claudine Berr37, Stéphanie Debette36, Jean-François Dartigues36, Gianfranco Spalletta38, Benedetta Nacmias39,40, Vincenzo Solfrezzi41, Barbara Borroni42, Lucio Tremolizzo43, Davide Seripa44, Paolo Caffarra45, Antonio Daniele46,47, Daniela Galimberti48,49, Innocenzo Rainero50, Luisa Benussi51, Alesio Squassina52, Patrizia Mecoci53, Lucilla Parnetti54, Carlo Masullo55, Beatrice Arosio56, John Hardy57, Simon Mead58, Kevin Morgan59, Clive Holmes60, Patrick Kehoe61, Bob Woods62, EADB, Charge, ADGC, Jin Sha15,16, Yi Zhao15,63, Chien-Yueh Lee15,63, Pavel P. -
Meta-Analysis of Genetic Association with Diagnosed Alzheimer's Disease Identifies Novel Risk Loci and Implicates Abeta, Tau, Immunity and Lipid Processing
bioRxiv preprint doi: https://doi.org/10.1101/294629; this version posted April 4, 2018. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY-NC-ND 4.0 International license. Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing Kunkle BW+*1, Grenier-Boley B+2,3,4, Sims R5, Bis JC6, Naj AC7, Boland A8, Vronskaya M5, van der Lee SJ9, Amlie- Wolf A10, Bellenguez C2,3,4, Frizatti A5, Chouraki V2,11, Martin ER1,12, Sleegers K13,14, Badarinarayan N5, Jakobsdottir J15, Hamilton-Nelson KL1, Aloso R8, Raybould R5, Chen Y10, Kuzma AB10, Hiltunen M17,18, Morgan T5, Ahmad S9, Vardarajan BN19-21, Epelbaum J22, Hoffmann P23,24,25, Boada M26, Beecham GW1,12, Garnier JG8, Harold D27, Fitzpatrick AL28,29, Valladares O10, Moutet ML8, Gerrish A5, Smith AV30,31, Qu L10, Bacq D8, Denning N5, Jian X32, Zhao Y10, Zompo MD33, Fox NC34, Grove ML23, Choi SH16, Mateo I35, Hughes JT36, Adams HH9, Malamon J10, Garcia FS36, Patel Y37, Brody JA6, Dombroski B10, Naranjo MCD36, Daniilidou M38, Eiriksdottir G15, Mukherjee S39, Wallon D40,41, Uphill J42, Aspelund T15,43, Cantwell LB10, Garzia F8, Galimberti D44, Hofer E45,46, Butkiewics M47, Fin B8, Scarpini E44, Sarnowski C16, Bush W47, Meslage S8, Kornhuber J48, White CC49, Song Y47, Barber RC50, Engelborghs S51,52, Pichler S53, Voijnovic D9, Adams PM54, Vandenberghe