DOCSLIB.ORG

A Web-Based Database for Functional Annotation of Triticum Aestivum

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
A Web-Based Database for Functional Annotation of Triticum Aestivum dbWFA: a web-based database for functional annotation of Triticum aestivum transcripts Jonathan Vincent, Zhanwu Dai, Catherine Ravel, Frédéric Choulet, Saïd Mouzeyar, Mohamed-Fouad Bouzidi, Marie Agier, Pierre Martre To cite this version: Jonathan Vincent, Zhanwu Dai, Catherine Ravel, Frédéric Choulet, Saïd Mouzeyar, et al.. db- WFA: a web-based database for functional annotation of Triticum aestivum transcripts. Database - The journal of Biological Databases and Curation, Oxford University Press, 2013, 2013, 12 p. 10.1093/database/bat014. hal-00964169 HAL Id: hal-00964169 https://hal.archives-ouvertes.fr/hal-00964169 Submitted on 29 May 2020 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. Distributed under a Creative Commons Attribution| 4.0 International License Database, Vol. 2013, Article ID bat014, doi:10.1093/database/bat014 ............................................................................................................................................................................................................................................................................................. Database tool dbWFA: a web-based database for functional annotation of Triticum aestivum transcripts Jonathan Vincent1,2,3, Zhanwu Dai1,2, Catherine Ravel1,2, Fre´ de´ ric Choulet1,2, Said Mouzeyar1,2, M. Fouad Bouzidi1,2, Marie Agier3 and Pierre Martre1,2,* 1INRA, UMR1095 Genetics, Diversity and Ecophysiology of Cereals, 5 Chemin de Beaulieu, Clermont-Ferrand, F-63 039 Cedex 2, France, 2Blaise Pascal University, UMR1095 Genetics, Diversity and Ecophysiology of Cereals, Aubie` re F-63 177, France and 3Blaise Pascal University, UMR6158 CNRS Downloaded from LIMOS Laboratoire d’Informatique, de Mode´ lisation et d’Optimisation des Syste` mes, Aubie` re F-63 173, France Present address: Zhanwu Dai, INRA, ISVV, UMR1287 E´ cophysiologie et Ge´ nomique Fonctionnelle de la Vigne (EGFV), F-33 882 Villenave d’Ornon, France *Corresponding author: Tel: +33 473 624 351; Fax: +33 473 624 457; Email: [email protected] Submitted 11 July 2012; Revised 19 February 2013; Accepted 20 February 2013 http://database.oxfordjournals.org/ Citation details: Vincent,J., Dai,Z.W., Ravel,C. et al. dbWFA: a web-based database for functional annotation of Triticum aestivum transcripts. Database (2013) Vol. 2013: article ID bat014; doi:10.1093/database/bat014 ............................................................................................................................................................................................................................................................................................. The functional annotation of genes based on sequence homology with genes from model species genomes is time-consuming because it is necessary to mine several unrelated databases. The aim of the present work was to develop a functional annotation database for common wheat Triticum aestivum (L.). The database, named dbWFA, is based on the reference NCBI UniGene set, an expressed gene catalogue built by expressed sequence tag clustering, and on full-length coding sequences retrieved from the TriFLDB database. Information from good-quality heterogeneous sources, including at INRA Avignon on May 13, 2013 annotations for model plant species Arabidopsis thaliana (L.) Heynh. and Oryza sativa L., was gathered and linked to T. aestivum sequences through BLAST-based homology searches. Even though the complexity of the transcriptome cannot yet be fully appreciated, we developed a tool to easily and promptly obtain information from multiple functional annotation systems (Gene Ontology, MapMan bin codes, MIPS Functional Categories, PlantCyc pathway reactions and TAIR gene families). The use of dbWFA is illustrated here with several query examples. We were able to assign a putative function to 45% of the UniGenes and 81% of the full-length coding sequences from TriFLDB. Moreover, comparison of the annotation of the whole T. aestivum UniGene set along with curated annotations of the two model species assessed the accuracy of the annotation provided by dbWFA. To further illustrate the use of dbWFA, genes specifically expressed during the early cell division or late storage polymer accumulation phases of T. aestivum grain development were identified using a clustering analysis and then annotated using dbWFA. The annotation of these two sets of genes was consistent with previous analyses of T. aestivum grain transcriptomes and proteomes. Database URL: urgi.versailles.inra.fr/dbWFA/ ............................................................................................................................................................................................................................................................................................. Introduction produced important genomic resources (1–4), the complete sequencing and annotation of the hexaploid (2n = 6Â = 42, Triticum aestivum (L.), common wheat or bread wheat, is AABBDD) T. aestivum genome has yet to be achieved. one of the most important staple crops in the world. It is A first version of the genome of the bread wheat cv. cultivated worldwide and provides >20% of the calories Chinese Spring has recently been published (4), providing and proteins in the human diet (http://faostat.fao.org). the scientific community with highly valuable genomic Although ongoing sequencing efforts have already and evolutionary information, which will facilitate ............................................................................................................................................................................................................................................................................................. ß The Author(s) 2013. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/3.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Page 1 of 12 (page number not for citation purposes) Database tool Database, Vol. 2013, Article ID bat014, doi:10.1093/database/bat014 ............................................................................................................................................................................................................................................................................................. genome-wide analysis of bread wheat. However, because make it the most comprehensive coding DNA (cDNA) of the low-coverage (5-fold) shotgun sequencing method assembly available to date, and UniGene assemblies have used in this project, this resource does not represent a high- been used as a reference set of sequences for many species. quality draft of the wheat genome in terms of sequence An additional effort was made to construct full-length completion, quality and annotation. Genome-wide analysis cDNA sequences that were included in the TriFLDB data- of gene expression by means of expression microarrays or base (19). Full-length cDNA sequences are most commonly transcriptome sequencing (RNA-Seq) is now being adopted used in genome annotation as a resource for cross-species in T. aestivum (5, 6), but analysing such large datasets comparative analyses. Currently, TriFLDB is the most reli- requires extensive annotation efforts. Data fragmentation able source of full-length cDNA sequences in T. aestivum. and technical and semantic heterogeneity can severely limit TriFLDB includes annotations based on homologies found the efficient extraction and interpretation of biological by searching protein databases, extensive Gene Ontology data (7, 8). (GO) annotations and InterProScan results. Recently, a new More and more genomic information is becoming avail- collection of nearly 1 million ESTs, assembled into contigs able for T. aestivum research. Various resources and asso- and singlets, was annotated with GO terms (20), but mean- ciated tools grant the user a structural overview of ingful prediction of gene function requires more than one expressed sequence tag (EST) (ITEC, http://avena.pw.usda. system of annotation. Downloaded from gov/genome/) (9, 10) or bacterial artificial chromosome After the sequencing of the first plant genome, clone libraries (11, 12) for instance (13–15). Important ini- Arabidopsis thaliana in 2000 (21), several plant sequencing tiatives are underway to facilitate the breeding of im- projects have been successful. The sequenced genomes proved Triticeae varieties. The TriticeaeGenome project most closely related to the T. aestivum genome are those (www.triticeaegenome.eu) grants access to comprehensive of Oryza sativa ssp. indica (22), Oryza sativa ssp. japonica http://database.oxfordjournals.org/ information extracted from experimental data to provide a (23), Zea mays (24), Glycine max (25), Sorghum bicolor (26), better understanding of
Load more

Recommended publications
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Revisited Genotype-Phenotype Correlations of All Published Cases
    VIEWS AND REVIEWS OPEN ACCESS Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited Genotype-phenotype correlations of all published cases Georgia Xiromerisiou, MD, PhD, Chrysoula Marogianni, MD, MSc, Katerina Dadouli, MSc, Correspondence Christina Zompola, MD, Despoina Georgouli, MD, MSc, Antonios Provatas, MD, PhD, Dr. Xiromerisiou [email protected] Aikaterini Theodorou, MD, Paschalis Zervas, MD, Christina Nikolaidou, MD, Stergios Stergiou, MD, Panagiotis Ntellas, MD, Maria Sokratous, MD, MSc, Pantelis Stathis, MD, PhD, Georgios P. Paraskevas, MD, PhD, Anastasios Bonakis, MD, PhD, Konstantinos Voumvourakis, MD, PhD, Christos Hadjichristodoulou, MD, PhD, Georgios M. Hadjigeorgiou, MD, PhD, and Georgios Tsivgoulis, MD, PhD Neurol Genet 2020;6:e434. doi:10.1212/NXG.0000000000000434 Abstract Objective The aim of this study was to evaluate the correlation between the various NOTCH3 mutations and their clinical and genetic profile, along with the presentation of a novel mutation in a patient. Methods Here, we describe the phenotype of a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) harboring a novel mutation. We also performed an extensive literature research for NOTCH3 mutations published since the identification of the gene and performed a systematic review of all published cases with NOTCH3 mutations. We evaluated the mutation pathogenicity in a great number of patients with detailed clinical and genetic evaluation and investigated the possible phenotype-genotype correlations. Results Our patient harbored a novel mutation in the NOTCH3 gene, the c.3084 G > C, corresponding to the aminoacidic substitution p.Trp1028Cys, presenting with seizures as the first neurologic manifestation. We managed to find a correlation between the pathogenicity of mutations, severity of the phenotype, and age at onset of CADASIL.
    [Show full text]
  • Genome-Wide Analysis of LRR-RLK Gene Family in Four Gossypium Species and Expression Analysis During Cotton Development and Stress Responses
    G C A T T A C G G C A T genes Article Genome-Wide Analysis of LRR-RLK Gene Family in Four Gossypium Species and Expression Analysis during Cotton Development and Stress Responses Ruibin Sun 1, Shaohui Wang 1, Dan Ma 1 and Chuanliang Liu 1,2,* 1 State Key Laboratory of Cotton Biology, Institute of Cotton Research, Chinese Academy of Agricultural Sciences, Anyang 455000, China; [email protected] (R.S.); [email protected] (S.W.); [email protected] (D.M.) 2 Zhengzhou Research Base, State Key Laboratory of Cotton Biology, Zhengzhou University, Zhengzhou 450066, China * Correspondence: [email protected] Received: 30 September 2018; Accepted: 26 November 2018; Published: 29 November 2018 Abstract: Leucine-rich repeat receptor-like kinases (LRR-RLKs) have been reported to play important roles in plant growth, development, and stress responses. However, no comprehensive analysis of this family has been performed in cotton (Gossypium spp.), which is an important economic crop that suffers various stresses in growth and development. Here we conducted a comprehensive analysis of LRR-RLK family in four Gossypium species (Gossypium arboreum, Gossypium barbadense, Gossypium hirsutum, and Gossypium raimondii). A total of 1641 LRR-RLK genes were identified in the four Gossypium species involved in our study. The maximum-likelihood phylogenetic tree revealed that all the LRR-RLK genes were divided into 21 subgroups. Exon-intron organization structure of LRR-RLK genes kept relatively conserved within subfamilies and between Arabidopsis and Gossypium genomes. Notably, subfamilies XI and XII were found dramatically expanded in Gossypium species. Tandem duplication acted as an important mechanism in expansion of the Gossypium LRR-RLK gene family.
    [Show full text]
  • How Chaotic Is Genome Chaos?
    cancers Review How Chaotic Is Genome Chaos? James A. Shapiro Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL 60637, USA; [email protected] Simple Summary: Cancer genomes can undergo major restructurings involving many chromosomal locations at key stages in tumor development. This restructuring process has been designated “genome chaos” by some authors. In order to examine how chaotic cancer genome restructuring may be, the cell and molecular processes for DNA restructuring are reviewed. Examination of the action of these processes in various cancers reveals a degree of specificity that indicates genome restructuring may be sufficiently reproducible to enable possible therapies that interrupt tumor progression to more lethal forms. Abstract: Cancer genomes evolve in a punctuated manner during tumor evolution. Abrupt genome restructuring at key steps in this evolution has been called “genome chaos.” To answer whether widespread genome change is truly chaotic, this review (i) summarizes the limited number of cell and molecular systems that execute genome restructuring, (ii) describes the characteristic signatures of DNA changes that result from activity of those systems, and (iii) examines two cases where genome restructuring is determined to a significant degree by cell type or viral infection. The conclusion is that many restructured cancer genomes display sufficiently unchaotic signatures to identify the cellular systems responsible for major oncogenic transitions, thereby identifying possible targets for therapies to inhibit tumor progression to greater aggressiveness. Keywords: DNA break repair; alternative end-joining (alt-EJ); chromothripsis; chromoplexy; chro- Citation: Shapiro, J.A. How Chaotic moanasynthesis; retrotransposition; target-primed reverse transcription (TPRT); immunoglobulin Is Genome Chaos? Cancers 2021, 13, VDJ joining; class switch recombination (CSR); human papillomavirus (HPV) 1358.
    [Show full text]
  • On the Role of Chromosomal Rearrangements in Evolution
    On the role of chromosomal rearrangements in evolution: Reconstruction of genome reshuffling in rodents and analysis of Robertsonian fusions in a house mouse chromosomal polymorphism zone by Laia Capilla Pérez A thesis submitted for the degree of Doctor of Philosophy in Animal Biology Supervisors: Dra. Aurora Ruiz-Herrera Moreno and Dr. Jacint Ventura Queija Institut de Biotecnologia i Biomedicina (IBB) Departament de Biologia Cel·lular, Fisiologia i Immunologia Departament de Biologia Animal, Biologia Vegetal i Ecologia Universitat Autònoma de Barcelona Supervisor Supervisor PhD candidate Aurora Ruiz-Herrera Moreno Jacint Ventura Queija Laia Capilla Pérez Bellaterra, 2015 A la mare Al pare Al mano “Visto a la luz de la evolución, la biología es, quizás, la ciencia más satisfactoria e inspiradora. Sin esa luz, se convierte en un montón de hechos varios, algunos de ellos interesantes o curiosos, pero sin formar ninguna visión conjunta.” Theodosius Dobzhansky “La evolución es tan creativa. Por eso tenemos jirafas.” Kurt Vonnegut This thesis was supported by grants from: • Ministerio de Economía y Competitividad (CGL2010-15243 and CGL2010- 20170). • Generalitat de Catalunya, GRQ 1057. • Ministerio de Economía y Competitividad. Beca de Formación de Personal Investigador (FPI) (BES-2011-047722). • Ministerio de Economía y Competitividad. Beca para la realización de estancias breves (EEBB-2011-07350). Covers designed by cintamontserrat.blogspot.com INDEX Abstract 15-17 Acronyms 19-20 1. GENERAL INTRODUCTION 21-60 1.1 Chromosomal rearrangements
    [Show full text]
  • Role of ECDYSONELESS in ERBB2/HER2 Mediated Breast Oncogenesis
    University of Nebraska Medical Center DigitalCommons@UNMC Theses & Dissertations Graduate Studies Spring 5-7-2016 Role of ECDYSONELESS in ERBB2/HER2 Mediated Breast Oncogenesis Shalis A. Ammons University of Nebraska Medical Center Follow this and additional works at: https://digitalcommons.unmc.edu/etd Part of the Biology Commons, and the Cancer Biology Commons Recommended Citation Ammons, Shalis A., "Role of ECDYSONELESS in ERBB2/HER2 Mediated Breast Oncogenesis" (2016). Theses & Dissertations. 107. https://digitalcommons.unmc.edu/etd/107 This Dissertation is brought to you for free and open access by the Graduate Studies at DigitalCommons@UNMC. It has been accepted for inclusion in Theses & Dissertations by an authorized administrator of DigitalCommons@UNMC. For more information, please contact [email protected]. ROLE OF ECDYSONELESS IN ERBB2/HER2 MEDIATED BREAST ONCOGENESIS By Shalis Ammons A DISSERTATION Presented to the Faculty of the University of Nebraska Graduate College in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy Genetics, Cell Biology & Anatomy Graduate Program Under the supervision of Professor Vimla Band University of Nebraska Medical Center Omaha, Nebraska April, 2016 Supervisory Committee: Karen Gould, Ph.D Kay-Uwe Wagner, Ph.D Hamid Band, Ph.D Kaustubh Datta, Ph.D ROLE OF ECDYSONELESS IN ERBB2/HER2 MEDIATED BREAST ONCOGENESIS By Shalis Ammons University of Nebraska Medical Center, 2016 Advisor: Vimla Band, PhD Breast cancer is the second leading cause of cancer related deaths in women in the United States. The human Epidermal Growth Factor 2 (ErbB2) gene amplification and/or receptor overexpression subtype of breast cancer accounts for 25% of all breast cancers.
    [Show full text]
  • Genes of Innate Immunity and Their Significance in Evolutionary Ecology of Free Livings Rodents Alena Fornuskova
    Genes of innate immunity and their significance in evolutionary ecology of free livings rodents Alena Fornuskova To cite this version: Alena Fornuskova. Genes of innate immunity and their significance in evolutionary ecology of free livings rodents. Populations and Evolution [q-bio.PE]. Université Montpellier II - Sciences et Tech- niques du Languedoc; Masarykova univerzita (Brno, République tchèque), 2013. English. NNT : 2013MON20103. tel-01021258 HAL Id: tel-01021258 https://tel.archives-ouvertes.fr/tel-01021258 Submitted on 9 Jul 2014 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. UNIVERSITE•MONTPELLIER•II•• SCIENCES•ET•TECHNIQUES•DU•LANGUEDOC•• FACULTE•DES•SCIENCES• • and• • MASARYK•UNIVERSITY,•BRNO• FACULTY•OF•SCIENCE• • THESIS•• • To•obtain•doctoral•degree• • Formation•doctorale :•Biologie•de•l'évolution•et•écologie• • Ecole•Doctorale :•Systèmes•Intégrés•en•Biologie,•Agronomie,•Géosciences,•Hydrosciences, • Environnement,•SIBAGHE• • • Presented•and•defended•publicly• • AUTHOR:•Alena•Fornuskova• • • GENES•OF•INNATE•IMMUNITY•AND•THEIR•SIGNIFICANCE•IN•
    [Show full text]
  • GLP1/GLP1 Receptors
    J-L HWANG and others Evolution of GLP1 and GLP1 52:3 T15–T27 Thematic Review receptor MOLECULAR EVOLUTION OF GPCRS GLP1/GLP1 receptors Correspondence Jong-Ik Hwang, Seongsik Yun, Mi Jin Moon, Cho Rong Park and Jae Young Seong should be addressed to J Y Seong Graduate School of Medicine, Korea University, Seoul 136-705, Republic of Korea Email [email protected] Abstract Glucagon-like peptide 1 (GLP1) is an intestinal incretin that regulates glucose homeostasis Key Words through stimulation of insulin secretion from pancreatic b-cells and inhibits appetite by " evolution acting on the brain. Thus, it is a promising therapeutic agent for the treatment of type 2 " exon diabetes mellitus and obesity. Studies using synteny and reconstructed ancestral " GLP1 chromosomes suggest that families for GLP1 and its receptor (GLP1R) have emerged through " GLP1R two rounds (2R) of whole genome duplication and local gene duplications before and after " G protein-coupled receptor 2R. Exon duplications have also contributed to the expansion of the peptide family " genome members. Specific changes in the amino acid sequence following exon/gene/genome " gene duplications have established distinct yet related peptide and receptor families. These " duplication specific changes also confer selective interactions between GLP1 and GLP1R. In this review, we present a possible macro (genome level)- and micro (gene/exon level)-evolution mechanisms of GLP1 and GLP1R, which allows them to acquire selective interactions between this ligand–receptor pair. This information may provide critical insight for the Journal of Molecular development of potent therapeutic agents targeting GLP1R. Endocrinology Journal of Molecular Endocrinology (2014) 52, T15–T27 Introduction Glucagon-like peptide 1 (GLP1) is a gastrointestinal 1990).
    [Show full text]
  • Table S1. 103 Ferroptosis-Related Genes Retrieved from the Genecards
    Table S1. 103 ferroptosis-related genes retrieved from the GeneCards. Gene Symbol Description Category GPX4 Glutathione Peroxidase 4 Protein Coding AIFM2 Apoptosis Inducing Factor Mitochondria Associated 2 Protein Coding TP53 Tumor Protein P53 Protein Coding ACSL4 Acyl-CoA Synthetase Long Chain Family Member 4 Protein Coding SLC7A11 Solute Carrier Family 7 Member 11 Protein Coding VDAC2 Voltage Dependent Anion Channel 2 Protein Coding VDAC3 Voltage Dependent Anion Channel 3 Protein Coding ATG5 Autophagy Related 5 Protein Coding ATG7 Autophagy Related 7 Protein Coding NCOA4 Nuclear Receptor Coactivator 4 Protein Coding HMOX1 Heme Oxygenase 1 Protein Coding SLC3A2 Solute Carrier Family 3 Member 2 Protein Coding ALOX15 Arachidonate 15-Lipoxygenase Protein Coding BECN1 Beclin 1 Protein Coding PRKAA1 Protein Kinase AMP-Activated Catalytic Subunit Alpha 1 Protein Coding SAT1 Spermidine/Spermine N1-Acetyltransferase 1 Protein Coding NF2 Neurofibromin 2 Protein Coding YAP1 Yes1 Associated Transcriptional Regulator Protein Coding FTH1 Ferritin Heavy Chain 1 Protein Coding TF Transferrin Protein Coding TFRC Transferrin Receptor Protein Coding FTL Ferritin Light Chain Protein Coding CYBB Cytochrome B-245 Beta Chain Protein Coding GSS Glutathione Synthetase Protein Coding CP Ceruloplasmin Protein Coding PRNP Prion Protein Protein Coding SLC11A2 Solute Carrier Family 11 Member 2 Protein Coding SLC40A1 Solute Carrier Family 40 Member 1 Protein Coding STEAP3 STEAP3 Metalloreductase Protein Coding ACSL1 Acyl-CoA Synthetase Long Chain Family Member 1 Protein
    [Show full text]
  • Modeling the Interaction Between Light and Complex Molecular Systems Hugo Gattuso
    DNA photosensitization : modeling the interaction between light and complex molecular systems Hugo Gattuso To cite this version: Hugo Gattuso. DNA photosensitization : modeling the interaction between light and complex molec- ular systems. Theoretical and/or physical chemistry. Université de Lorraine, 2017. English. NNT : 2017LORR0101. tel-01735331 HAL Id: tel-01735331 https://tel.archives-ouvertes.fr/tel-01735331 Submitted on 15 Mar 2018 HAL is a multi-disciplinary open access L’archive ouverte pluridisciplinaire HAL, est archive for the deposit and dissemination of sci- destinée au dépôt et à la diffusion de documents entific research documents, whether they are pub- scientifiques de niveau recherche, publiés ou non, lished or not. The documents may come from émanant des établissements d’enseignement et de teaching and research institutions in France or recherche français ou étrangers, des laboratoires abroad, or from public or private research centers. publics ou privés. AVERTISSEMENT Ce document est le fruit d'un long travail approuvé par le jury de soutenance et mis à disposition de l'ensemble de la communauté universitaire élargie. Il est soumis à la propriété intellectuelle de l'auteur. Ceci implique une obligation de citation et de référencement lors de l’utilisation de ce document. D'autre part, toute contrefaçon, plagiat, reproduction illicite encourt une poursuite pénale. Contact : [email protected] LIENS Code de la Propriété Intellectuelle. articles L 122. 4 Code de la Propriété Intellectuelle. articles
    [Show full text]
  • Genome-Wide Transcriptome Study in Skin Biopsies Reveals An
    www.nature.com/scientificreports OPEN Genome‑wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment Elena Muiño1, Olga Maisterra2, Joan Jiménez‑Balado2, Natalia Cullell1,3, Caty Carrera1, Nuria P. Torres‑Aguila1, Jara Cárcel‑Márquez1, Cristina Gallego‑Fabrega1,3, Miquel Lledós1, Jonathan González‑Sánchez3,4, Ferran Olmos‑Alpiste5, Eva Espejo5, Álvaro March5, Ramón Pujol5, Ana Rodríguez‑Campello6, Gemma Romeral6, Jurek Krupinski7, Joan Martí‑Fàbregas8, Joan Montaner4,9,10, Jaume Roquer6 & Israel Fernández‑Cadenas1* CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF‑like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function characteristically impaired. The molecular pathways altered by this receptor aggregation need to be studied further. A genome‑wide transcriptome study (four cases paired with three healthy siblings) was carried out, in addition to a qRT‑PCR for validation purposes (ten new cases and eight new controls). To study the expression profle by cell type of the signifcant mRNAs found, we performed an in situ hybridization (ISH) (nine cases and eight controls) and a research in the Single‑ nuclei Brain RNA‑seq expression browser (SNBREB). Pathway analysis enrichment was carried out with Gene Ontology and Reactome. Neuropsychological tests were performed in fve of the qRT‑PCR cases. The two most signifcant diferentially expressed mRNAs (BANP, p‑value = 7.23 × ­10–4 and PDCD6IP, p‑value = 8.36 × ­10–4) were selected for the validation study by qRT‑PCR.
    [Show full text]
  • Genomic Analysis of the Ecdysone Steroid Signal at Metamorphosis Onset Using Ecdysoneless and Ecrnull Drosophila Melanogaster Mutants
    Genes Genom (2013) 35:21–46 DOI 10.1007/s13258-013-0061-0 RESEARCH ARTICLE Genomic analysis of the ecdysone steroid signal at metamorphosis onset using ecdysoneless and EcRnull Drosophila melanogaster mutants Melissa B. Davis • TongRuei Li Received: 7 December 2011 / Accepted: 23 July 2012 / Published online: 5 February 2013 Ó The Author(s) 2013. This article is published with open access at Springerlink.com Abstract Steroid hormone gene regulation is often common targets and also identified novel sets of target depicted as a linear transduction of the signal, from mol- genes which where exclusive to each mutant condition. ecule release to the gene level, by activation of a receptor Around 12 % of the genome responds to the ecdysone protein after being bound by its steroid ligand. Such an hormone signal at the onset of metamorphosis and over action would require that the hormone be present and half of these are independent of the receptor. In addition, a bound to the receptor in order to have target gene response. significant portion of receptor regulated genes are differ- Here, we present data that presents a novel perspective of entially regulated by the receptor, depending on its ligand hormone gene regulation, where the hormone molecule and state. Gene ontology enrichment analyses confirm known its receptor have exclusive target gene regulation function, ecdysone regulated biological functions and also validate in addition to the traditional direct target genes. Our study implicated pathways that have been indirectly associated is the first genome-wide analysis of conditional mutants with ecdysone signaling. simultaneously modeling the steroid and steroid receptor gene expression regulation.
    [Show full text]
  • Integrated Analysis of Whole Exome Sequencing and Copy Number
    www.nature.com/scientificreports OPEN Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson’s Received: 10 August 2018 Accepted: 8 February 2019 Disease Published: xx xx xxxx Eman Al Yemni1,2, Dorota Monies2,3, Thamer Alkhairallah4, Saeed Bohlega4, Mohamed Abouelhoda2,3, Amna Magrashi1, Abeer Mustafa1, Basma AlAbdulaziz1,2, Mohamed Alhamed 3, Batoul Baz 1, Ewa Goljan 2,3, Renad Albar2,3, Amjad Jabaan2, Tariq Faquih2,3, Shazia Subhani2,3, Wafa Ali3, Jameela Shinwari1, Bashayer Al-Mubarak1,2 & Nada Al-Tassan 1,2 Genetic studies of the familial forms of Parkinson’s disease (PD) have identifed a number of causative genes with an established role in its pathogenesis. These genes only explain a fraction of the diagnosed cases. The emergence of Next Generation Sequencing (NGS) expanded the scope of rare variants identifcation in novel PD related genes. In this study we describe whole exome sequencing (WES) genetic fndings of 60 PD patients with 125 variants validated in 51 of these cases. We used strict criteria for variant categorization that generated a list of variants in 20 genes. These variants included loss of function and missense changes in 18 genes that were never previously linked to PD (NOTCH4, BCOR, ITM2B, HRH4, CELSR1, SNAP91, FAM174A, BSN, SPG7, MAGI2, HEPHL1, EPRS, PUM1, CLSTN1, PLCB3, CLSTN3, DNAJB9 and NEFH) and 2 genes that were previously associated with PD (EIF4G1 and ATP13A2). These genes either play a critical role in neuronal function and/or have mouse models with disease related phenotypes. We highlight NOTCH4 as an interesting candidate in which we identifed a deleterious truncating and a splice variant in 2 patients.
    [Show full text]