DOCSLIB.ORG

Genetic Studies of Elite Athlete Status

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Genetic Studies of Elite Athlete Status Wang, Guan (2013) Genetic studies of elite athlete status. PhD thesis. http://theses.gla.ac.uk/4594/ Copyright and moral rights for this work are retained by the author A copy can be downloaded for personal non-commercial research or study, without prior permission or charge This work cannot be reproduced or quoted extensively from without first obtaining permission in writing from the author The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the author When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given Enlighten: Theses https://theses.gla.ac.uk/ [email protected] Genetic Studies of Elite Athlete Status by Guan Wang, M.Res. A Doctoral Thesis Submitted in fulfilment of the requirements for the Degree of Doctor of Philosophy August 2013 Institute of Cardiovascular and Medical Sciences College of Medical, Veterinary, and Life Sciences University of Glasgow © G. Wang 2013 2 Author’s Declaration I declare that this thesis is the result of my own work, except that subject recruitment in each country was orchestrated by the relevant PIs as follows: Dr. Yannis Pitsiladis (Jamaican sprint cohort), Dr. Krista Austin (USA sprint cohort), Dr. Rob Lee (Caucasian swim cohort), Dr. Noriyuki Fuku (Japanese swim and track-and-field athlete cohorts), and Dr. Sandy Hsieh (Taiwanese swim cohort); genotyping of Japanese and Taiwanese swim cohort was conducted by Dr. Eri Mikami and Dr. Li-Ling Chiu; genome-wide genotyping of Jamaican and USA sprint cohorts as well as Japanese track-and-field athlete cohort was overseen by Dr. Noriyuki Fuku and carried out in Japan; raw genotype data of additional 350 African-American controls was received from Dr. Braxton Mitchell at University of Maryland, USA. This work has not been submitted previously for any other degree at the University of Glasgow or any other institution. Guan Wang 3 Acknowledgement I would like to express my sincere thanks to my supervisors Dr. Yannis Pitsiladis and Dr. Sandosh Padmanabhan for their continuous support and guidance. Dr. Pitsiladis inspired me on the path to the completion of my PhD study with his enthusiasm to the field, guided and reminded me to reflect on my weaknesses, and provided me opportunities to be involved in diverse projects to improve my knowledge and skills in the field I am interested in. Dr. Padmanabhan provided me with his immense knowledge and persistent help on the GWAS project. Without the training from Dr. Padmanabhan on GWAS analysis, the completion of my PhD and this thesis would have not been possible. Also, I am truly thankful to Dr. Mark Bailey for his patience and time in helping me understand the essence of genetics, and his insightful comments and questions kept me thinking about the right way through a genetic research. Besides, I would also like to send “many thanks” to Dr. Claire Hastie for her generous help during the initial setting up of the GWAS analysis. Now, it is a great pleasure to thank everyone who provided their help and kindness to assist me at certain stage of my PhD: Dr. Noriyuki Fuku, Dr. Alessandra de Perini, Dr. Eri Mikami, Dr. Wai Kwong Lee, Dr. Jim McCulloch, Ms. Morvern Campbell, Mr. Michael Deason, Dr. Carlos Celis, Dr. Anna Christina Koni, Mr. David Hughes, Mrs. Anne Keenan. I would also like to thank the Great Britain Sasakawa Foundation for providing an award to me for visiting the lab in Japan on genome-wide genotyping technology. Finally, it is the “thanks” that beyond words that can adequately convey. These are to my family, my parents and uncle, for the roles they play in my life and their encouragement to 4 me at every step, and to my boyfriend, his sense of humour, tolerance and kindness helped me through every difficult moment over the past few years. 5 Table of Contents Author’s Declaration .............................................................................................................. 2 Acknowledgement.................................................................................................................. 3 List of Figures ........................................................................................................................ 8 List of Tables........................................................................................................................ 10 List of Abbreviations............................................................................................................ 11 Publications, Awards and Presentations .............................................................................. 16 Abstract ................................................................................................................................ 19 1 Introduction ................................................................................................................... 22 1.1 Elite human performance ......................................................................................... 22 1.2 Genetic variations in elite human performance ....................................................... 23 1.2.1 Family-based studies: genetic evidence ......................................................... 24 1.2.2 Association studies ......................................................................................... 26 1.2.3 Candidate gene association studies ................................................................ 28 1.3 Genome-wide association studies in complex traits ................................................ 30 1.3.1 Sample size and statistical power ................................................................... 32 1.3.2 Statistical significance thresholds .................................................................. 35 1.3.3 Population stratification and its solution ........................................................ 35 1.3.3.1 Genomic control ..................................................................................... 36 1.3.3.2 Structure assessment ............................................................................... 37 1.3.3.3 Principal component analysis ................................................................. 37 1.3.3.4 Family-based controlling approach ........................................................ 38 1.3.4 Genetic architecture of complex traits: CDCV hypothesis, infinitesimal model, rare allele model and the broad sense heritability model.................................. 39 1.3.5 GWAS of exercise-/performance-related traits .............................................. 40 1.3.5.1 GWAS of skeletal muscle trait ............................................................... 45 1.3.5.2 o 2max trainability .................................................................. 47 1.3.6 Replication ..................................................................................................... 48 1.4 Extreme phenotype................................................................................................... 50 1.5 Aims ......................................................................................................................... 51 2 Materials and methods .................................................................................................. 53 2.1 Study samples .......................................................................................................... 53 6 2.1.1 Elite athlete cohorts ........................................................................................ 53 2.1.2 DNA collection, extraction, quantification, storage and transportation......... 55 2.2 Genotyping ............................................................................................................... 57 2.2.1 Taqman® SNP genotyping ............................................................................. 57 2.2.1.1 Taqman® assay ........................................................................................ 57 2.2.1.2 PCR conditions and endpoint reading using StepOneTM software v2.1 . 58 2.2.2 Illumina whole-genome genotyping .............................................................. 59 2.2.2.1 Illumina Infinium DNA analysis BeadChips .......................................... 59 2.2.2.2 Illumina GenomeStudio v2010.3/v1.8: genotyping module ................... 60 2.3 Software ................................................................................................................... 61 2.3.1 PLINK ............................................................................................................ 61 2.3.2 Haploview ...................................................................................................... 62 2.3.3 EIGENSTRAT ............................................................................................... 63 2.4 Statistical analysis .................................................................................................... 65 2.4.1 Candidate gene association analysis .............................................................. 65 2.4.2 Analysis of GWAS ......................................................................................... 66 2.4.2.1 Power calculations .................................................................................. 66 2.4.2.2 Formats converting from Illumina output files to PLINK formats ......... 67 2.4.2.3 Quality control .......................................................................................
Load more

Recommended publications
  • Universidade Estadual De Campinas Instituto De Biologia
    UNIVERSIDADE ESTADUAL DE CAMPINAS INSTITUTO DE BIOLOGIA VERÔNICA APARECIDA MONTEIRO SAIA CEREDA O PROTEOMA DO CORPO CALOSO DA ESQUIZOFRENIA THE PROTEOME OF THE CORPUS CALLOSUM IN SCHIZOPHRENIA CAMPINAS 2016 1 VERÔNICA APARECIDA MONTEIRO SAIA CEREDA O PROTEOMA DO CORPO CALOSO DA ESQUIZOFRENIA THE PROTEOME OF THE CORPUS CALLOSUM IN SCHIZOPHRENIA Dissertação apresentada ao Instituto de Biologia da Universidade Estadual de Campinas como parte dos requisitos exigidos para a obtenção do Título de Mestra em Biologia Funcional e Molecular na área de concentração de Bioquímica. Dissertation presented to the Institute of Biology of the University of Campinas in partial fulfillment of the requirements for the degree of Master in Functional and Molecular Biology, in the area of Biochemistry. ESTE ARQUIVO DIGITAL CORRESPONDE À VERSÃO FINAL DA DISSERTAÇÃO DEFENDIDA PELA ALUNA VERÔNICA APARECIDA MONTEIRO SAIA CEREDA E ORIENTADA PELO DANIEL MARTINS-DE-SOUZA. Orientador: Daniel Martins-de-Souza CAMPINAS 2016 2 Agência(s) de fomento e nº(s) de processo(s): CNPq, 151787/2F2014-0 Ficha catalográfica Universidade Estadual de Campinas Biblioteca do Instituto de Biologia Mara Janaina de Oliveira - CRB 8/6972 Saia-Cereda, Verônica Aparecida Monteiro, 1988- Sa21p O proteoma do corpo caloso da esquizofrenia / Verônica Aparecida Monteiro Saia Cereda. – Campinas, SP : [s.n.], 2016. Orientador: Daniel Martins de Souza. Dissertação (mestrado) – Universidade Estadual de Campinas, Instituto de Biologia. 1. Esquizofrenia. 2. Espectrometria de massas. 3. Corpo caloso.
    [Show full text]
  • ZNF226 Is Over-Expressed in Brain Metastatic Breast Cancer-PDF 111920
    1 ZNF226 is over-expressed in brain metastatic breast cancer. 2 Shahan Mamoor East Islip, NY USA1 3 [email protected] 4 5 Metastasis to the brain is a clinical problem in patients with breast cancer1-3. We mined published 6 microarray data4,5 to compare primary and metastatic tumor transcriptomes to discover genes associated with brain metastasis in patients with metastatic breast cancer. We found that the zinc finger protein 226, 7 encoded by ZNF226 was among the genes whose expression was most different in the brain metastases of patients with brain metastatic breast cancer as compared to primary tumors of the breast. ZNF226 may be 8 relevant to processes underlying metastasis of primary tumor-derived cancer cells to the brain in humans 9 with metastatic breast cancer. 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 Keywords: breast cancer, brain metastases, central nervous system metastases, ZNF226, systems biology 26 of breast cancer, targeted therapeutics in breast cancer. 27 28 PAGE 1 1 One report described a 34% incidence of central nervous system metastases in trastuzumab- treated patients with breast cancer2. This alarmingly high frequency of CNS metastasis events demands 2 an enhanced understanding of the transcriptional makeup of brain metastatic tissues to support identification of therapeutic targets, whether they are treatment related or not. We performed a global 3 comparative analysis of primary and metastatic tumors in patients with brain metastatic breast cancer4,5. 4 We discovered significant differential and increased expression of ZNF226 in brain metastatic tissues of patients with metastatic breast cancer.
    [Show full text]
  • Distinguishing Pleiotropy from Linked QTL Between Milk Production Traits
    Cai et al. Genet Sel Evol (2020) 52:19 https://doi.org/10.1186/s12711-020-00538-6 Genetics Selection Evolution RESEARCH ARTICLE Open Access Distinguishing pleiotropy from linked QTL between milk production traits and mastitis resistance in Nordic Holstein cattle Zexi Cai1*†, Magdalena Dusza2†, Bernt Guldbrandtsen1, Mogens Sandø Lund1 and Goutam Sahana1 Abstract Background: Production and health traits are central in cattle breeding. Advances in next-generation sequencing technologies and genotype imputation have increased the resolution of gene mapping based on genome-wide association studies (GWAS). Thus, numerous candidate genes that afect milk yield, milk composition, and mastitis resistance in dairy cattle are reported in the literature. Efect-bearing variants often afect multiple traits. Because the detection of overlapping quantitative trait loci (QTL) regions from single-trait GWAS is too inaccurate and subjective, multi-trait analysis is a better approach to detect pleiotropic efects of variants in candidate genes. However, large sample sizes are required to achieve sufcient power. Multi-trait meta-analysis is one approach to deal with this prob- lem. Thus, we performed two multi-trait meta-analyses, one for three milk production traits (milk yield, protein yield and fat yield), and one for milk yield and mastitis resistance. Results: For highly correlated traits, the power to detect pleiotropy was increased by multi-trait meta-analysis com- pared with the subjective assessment of overlapping of single-trait QTL confdence intervals. Pleiotropic efects of lead single nucleotide polymorphisms (SNPs) that were detected from the multi-trait meta-analysis were confrmed by bivariate association analysis. The previously reported pleiotropic efects of variants within the DGAT1 and MGST1 genes on three milk production traits, and pleiotropic efects of variants in GHR on milk yield and fat yield were con- frmed.
    [Show full text]
  • Steroid-Dependent Regulation of the Oviduct: a Cross-Species Transcriptomal Analysis
    University of Kentucky UKnowledge Theses and Dissertations--Animal and Food Sciences Animal and Food Sciences 2015 Steroid-dependent regulation of the oviduct: A cross-species transcriptomal analysis Katheryn L. Cerny University of Kentucky, [email protected] Right click to open a feedback form in a new tab to let us know how this document benefits ou.y Recommended Citation Cerny, Katheryn L., "Steroid-dependent regulation of the oviduct: A cross-species transcriptomal analysis" (2015). Theses and Dissertations--Animal and Food Sciences. 49. https://uknowledge.uky.edu/animalsci_etds/49 This Doctoral Dissertation is brought to you for free and open access by the Animal and Food Sciences at UKnowledge. It has been accepted for inclusion in Theses and Dissertations--Animal and Food Sciences by an authorized administrator of UKnowledge. For more information, please contact [email protected]. STUDENT AGREEMENT: I represent that my thesis or dissertation and abstract are my original work. Proper attribution has been given to all outside sources. I understand that I am solely responsible for obtaining any needed copyright permissions. I have obtained needed written permission statement(s) from the owner(s) of each third-party copyrighted matter to be included in my work, allowing electronic distribution (if such use is not permitted by the fair use doctrine) which will be submitted to UKnowledge as Additional File. I hereby grant to The University of Kentucky and its agents the irrevocable, non-exclusive, and royalty-free license to archive and make accessible my work in whole or in part in all forms of media, now or hereafter known.
    [Show full text]
  • 1 Original Article Scleraxis and E47 Cooperatively Regulate the Sox9
    Original article Scleraxis and E47 cooperatively regulate the Sox9-dependent transcription Takayuki Furumatsu a, *, Chisa Shukunami b, Michiyo Amemiya-Kudo c, Hitoshi Shimano d, Toshifumi Ozaki a a Department of Orthopaedic Surgery, Science of Functional Recovery and Reconstruction, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences 2-5-1 Shikatacho, kitaku, Okayama 700-8558, Japan b Department of Cellular Differentiation, Institute for Frontier Medical Sciences, Kyoto University 53 Shogoin-Kawaharacho, Sakyoku, Kyoto 606-8507, Japan c Okinaka Memorial Institute for Medical Research, Toranomon Hospital 2-2-2 Toranomon, Minatoku, Tokyo 105-8470, Japan d Department of Internal Medicine, Endocrinology and Metabolism, Advanced Biomedical Applications, Graduate School of Comprehensive Human Sciences Center for Tsukuba Advanced Research Alliance, University of Tsukuba 1-1-1 Tennodai, Tsukuba-city, Ibaraki 305-8575, Japan * Corresponding author at: Department of Orthopaedic Surgery, Science of Functional Recovery and Reconstruction, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikatacho, Kitaku, Okayama 700-8558, Japan. Tel: +81-86-235-7273; fax: +81-86-223-9727. E-mail address: [email protected] (T. Furumatsu). 1 Abstract During musculoskeletal development, Sry-type HMG box 9 (Sox9) has a crucial role in mesenchymal condensation and chondrogenesis. On the other hand, a tissue-specific basic helix-loop-helix (bHLH) transcription factor Scleraxis (Scx) regulates the differentiation of tendon and ligament progenitors. Whereas these two transcription factors cooperatively participate in the determination of cellular lineages, the precise interaction between Sox9 and Scx remains unclear. We have previously demonstrated that the Sox9-dependent transcription is synergistically activated by several Sox9- associating molecules, such as p300 and Smad3, on chromatin.
    [Show full text]
  • Download The
    PROBING THE INTERACTION OF ASPERGILLUS FUMIGATUS CONIDIA AND HUMAN AIRWAY EPITHELIAL CELLS BY TRANSCRIPTIONAL PROFILING IN BOTH SPECIES by POL GOMEZ B.Sc., The University of British Columbia, 2002 A THESIS SUBMITTED IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF MASTER OF SCIENCE in THE FACULTY OF GRADUATE STUDIES (Experimental Medicine) THE UNIVERSITY OF BRITISH COLUMBIA (Vancouver) January 2010 © Pol Gomez, 2010 ABSTRACT The cells of the airway epithelium play critical roles in host defense to inhaled irritants, and in asthma pathogenesis. These cells are constantly exposed to environmental factors, including the conidia of the ubiquitous mould Aspergillus fumigatus, which are small enough to reach the alveoli. A. fumigatus is associated with a spectrum of diseases ranging from asthma and allergic bronchopulmonary aspergillosis to aspergilloma and invasive aspergillosis. Airway epithelial cells have been shown to internalize A. fumigatus conidia in vitro, but the implications of this process for pathogenesis remain unclear. We have developed a cell culture model for this interaction using the human bronchial epithelium cell line 16HBE and a transgenic A. fumigatus strain expressing green fluorescent protein (GFP). Immunofluorescent staining and nystatin protection assays indicated that cells internalized upwards of 50% of bound conidia. Using fluorescence-activated cell sorting (FACS), cells directly interacting with conidia and cells not associated with any conidia were sorted into separate samples, with an overall accuracy of 75%. Genome-wide transcriptional profiling using microarrays revealed significant responses of 16HBE cells and conidia to each other. Significant changes in gene expression were identified between cells and conidia incubated alone versus together, as well as between GFP positive and negative sorted cells.
    [Show full text]
  • E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease
    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Developmental Cell Review E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease Lan-Hsin Wang1 and Nicholas E. Baker1,2,3,* 1Department of Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA 2Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA 3Department of Ophthalmology and Visual Sciences, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA *Correspondence: [email protected] http://dx.doi.org/10.1016/j.devcel.2015.10.019 The basic Helix-Loop-Helix (bHLH) proteins represent a well-known class of transcriptional regulators. Many bHLH proteins act as heterodimers with members of a class of ubiquitous partners, the E proteins. A widely expressed class of inhibitory heterodimer partners—the Inhibitor of DNA-binding (ID) proteins—also exists. Genetic and molecular analyses in humans and in knockout mice implicate E proteins and ID proteins in a wide variety of diseases, belying the notion that they are non-specific partner proteins. Here, we explore relationships of E proteins and ID proteins to a variety of disease processes and highlight gaps in knowledge of disease mechanisms. E proteins and Inhibitor of DNA-binding (ID) proteins are widely conferring DNA-binding specificity and transcriptional activation expressed transcriptional regulators with very general functions. on heterodimers with the ubiquitous E proteins (Figure 1). They are implicated in diseases by evidence ranging from Another class of pervasive HLH proteins acts in opposition to confirmed Mendelian inheritance, association studies, and E proteins.
    [Show full text]
  • CSE642 Final Version
    Eindhoven University of Technology MASTER Dimensionality reduction of gene expression data Arts, S. Award date: 2018 Link to publication Disclaimer This document contains a student thesis (bachelor's or master's), as authored by a student at Eindhoven University of Technology. Student theses are made available in the TU/e repository upon obtaining the required degree. The grade received is not published on the document as presented in the repository. The required complexity or quality of research of student theses may vary by program, and the required minimum study period may vary in duration. General rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights. • Users may download and print one copy of any publication from the public portal for the purpose of private study or research. • You may not further distribute the material or use it for any profit-making activity or commercial gain Eindhoven University of Technology MASTER THESIS Dimensionality Reduction of Gene Expression Data Author: S. (Sako) Arts Daily Supervisor: dr. V. (Vlado) Menkovski Graduation Committee: dr. V. (Vlado) Menkovski dr. D.C. (Decebal) Mocanu dr. N. (Nikolay) Yakovets May 16, 2018 v1.0 Abstract The focus of this thesis is dimensionality reduction of gene expression data. I propose and test a framework that deploys linear prediction algorithms resulting in a reduced set of selected genes relevant to a specified case. Abstract In cancer research there is a large need to automate parts of the process of diagnosis, this is mainly to reduce cost, make it faster and more accurate.
    [Show full text]
  • Supplementary Table S4. FGA Co-Expressed Gene List in LUAD
    Supplementary Table S4. FGA co-expressed gene list in LUAD tumors Symbol R Locus Description FGG 0.919 4q28 fibrinogen gamma chain FGL1 0.635 8p22 fibrinogen-like 1 SLC7A2 0.536 8p22 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 DUSP4 0.521 8p12-p11 dual specificity phosphatase 4 HAL 0.51 12q22-q24.1histidine ammonia-lyase PDE4D 0.499 5q12 phosphodiesterase 4D, cAMP-specific FURIN 0.497 15q26.1 furin (paired basic amino acid cleaving enzyme) CPS1 0.49 2q35 carbamoyl-phosphate synthase 1, mitochondrial TESC 0.478 12q24.22 tescalcin INHA 0.465 2q35 inhibin, alpha S100P 0.461 4p16 S100 calcium binding protein P VPS37A 0.447 8p22 vacuolar protein sorting 37 homolog A (S. cerevisiae) SLC16A14 0.447 2q36.3 solute carrier family 16, member 14 PPARGC1A 0.443 4p15.1 peroxisome proliferator-activated receptor gamma, coactivator 1 alpha SIK1 0.435 21q22.3 salt-inducible kinase 1 IRS2 0.434 13q34 insulin receptor substrate 2 RND1 0.433 12q12 Rho family GTPase 1 HGD 0.433 3q13.33 homogentisate 1,2-dioxygenase PTP4A1 0.432 6q12 protein tyrosine phosphatase type IVA, member 1 C8orf4 0.428 8p11.2 chromosome 8 open reading frame 4 DDC 0.427 7p12.2 dopa decarboxylase (aromatic L-amino acid decarboxylase) TACC2 0.427 10q26 transforming, acidic coiled-coil containing protein 2 MUC13 0.422 3q21.2 mucin 13, cell surface associated C5 0.412 9q33-q34 complement component 5 NR4A2 0.412 2q22-q23 nuclear receptor subfamily 4, group A, member 2 EYS 0.411 6q12 eyes shut homolog (Drosophila) GPX2 0.406 14q24.1 glutathione peroxidase
    [Show full text]
  • Single-Cell Analysis Uncovers Fibroblast Heterogeneity
    ARTICLE https://doi.org/10.1038/s41467-020-17740-1 OPEN Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination ✉ Lars Muhl 1,2 , Guillem Genové 1,2, Stefanos Leptidis 1,2, Jianping Liu 1,2, Liqun He3,4, Giuseppe Mocci1,2, Ying Sun4, Sonja Gustafsson1,2, Byambajav Buyandelger1,2, Indira V. Chivukula1,2, Åsa Segerstolpe1,2,5, Elisabeth Raschperger1,2, Emil M. Hansson1,2, Johan L. M. Björkegren 1,2,6, Xiao-Rong Peng7, ✉ Michael Vanlandewijck1,2,4, Urban Lendahl1,8 & Christer Betsholtz 1,2,4 1234567890():,; Many important cell types in adult vertebrates have a mesenchymal origin, including fibro- blasts and vascular mural cells. Although their biological importance is undisputed, the level of mesenchymal cell heterogeneity within and between organs, while appreciated, has not been analyzed in detail. Here, we compare single-cell transcriptional profiles of fibroblasts and vascular mural cells across four murine muscular organs: heart, skeletal muscle, intestine and bladder. We reveal gene expression signatures that demarcate fibroblasts from mural cells and provide molecular signatures for cell subtype identification. We observe striking inter- and intra-organ heterogeneity amongst the fibroblasts, primarily reflecting differences in the expression of extracellular matrix components. Fibroblast subtypes localize to discrete anatomical positions offering novel predictions about physiological function(s) and regulatory signaling circuits. Our data shed new light on the diversity of poorly defined classes of cells and provide a foundation for improved understanding of their roles in physiological and pathological processes. 1 Karolinska Institutet/AstraZeneca Integrated Cardio Metabolic Centre, Blickagången 6, SE-14157 Huddinge, Sweden.
    [Show full text]
  • Looking for Missing Proteins in the Proteome Of
    Looking for Missing Proteins in the Proteome of Human Spermatozoa: An Update Yves Vandenbrouck, Lydie Lane, Christine Carapito, Paula Duek, Karine Rondel, Christophe Bruley, Charlotte Macron, Anne Gonzalez de Peredo, Yohann Coute, Karima Chaoui, et al. To cite this version: Yves Vandenbrouck, Lydie Lane, Christine Carapito, Paula Duek, Karine Rondel, et al.. Looking for Missing Proteins in the Proteome of Human Spermatozoa: An Update. Journal of Proteome Research, American Chemical Society, 2016, 15 (11), pp.3998-4019. 10.1021/acs.jproteome.6b00400. hal-02191502 HAL Id: hal-02191502 https://hal.archives-ouvertes.fr/hal-02191502 Submitted on 19 Mar 2021 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. Journal of Proteome Research 1 2 3 Looking for missing proteins in the proteome of human spermatozoa: an 4 update 5 6 Yves Vandenbrouck1,2,3,#,§, Lydie Lane4,5,#, Christine Carapito6, Paula Duek5, Karine Rondel7, 7 Christophe Bruley1,2,3, Charlotte Macron6, Anne Gonzalez de Peredo8, Yohann Couté1,2,3, 8 Karima Chaoui8, Emmanuelle Com7, Alain Gateau5, AnneMarie Hesse1,2,3, Marlene 9 Marcellin8, Loren Méar7, Emmanuelle MoutonBarbosa8, Thibault Robin9, Odile Burlet- 10 Schiltz8, Sarah Cianferani6, Myriam Ferro1,2,3, Thomas Fréour10,11, Cecilia Lindskog12,Jérôme 11 1,2,3 7,§ 12 Garin , Charles Pineau .
    [Show full text]
  • Claire Hastie Thesis
    Hastie, Claire E. (2011) Discovering common genetic variants for hypertension using an extreme case-control strategy. PhD thesis. http://theses.gla.ac.uk/2423/ Copyright and moral rights for this thesis are retained by the author A copy can be downloaded for personal non-commercial research or study, without prior permission or charge This thesis cannot be reproduced or quoted extensively from without first obtaining permission in writing from the Author The content must not be changed in any way or sold commercially in any format or medium without the formal permission of the Author When referring to this work, full bibliographic details including the author, title, awarding institution and date of the thesis must be given. Glasgow Theses Service http://theses.gla.ac.uk/ [email protected] Discovering Common Genetic Variants for Hypertension Using an Extreme Case-control Strategy Claire E. Hastie, M.Sc. This being a thesis submitted for the degree of Doctor of Philosophy (Ph.D.) in the Faculty of Medicine, University of Glasgow October 2010 BHF Glasgow Cardiovascular Research Centre Institute of Cardiovascular and Medical Sciences College of Medical, Veterinary, and Life Sciences University of Glasgow © C.E. Hastie 2010 Declaration I declare that this thesis has been written entirely by myself and is a record of research performed by myself with the exception of discovery cohort genotyping (Dr Wai K. Lee, Dr Anna Maria Di Blasio, Stewart Laing, and Dr Davide Gentilini), genotyping and association analysis of replication cohorts (undertaken by investigators from each cohort, respectively), and analysis of data from the BRIGHT (Dr Sandosh Padmanabhan), GRECO and HERCULES clinical functional cohorts (undertaken by investigators from each cohort, respectively).
    [Show full text]