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Genetic Variation Across the Human Olfactory Receptor Repertoire Alters Odor Perception
bioRxiv preprint doi: https://doi.org/10.1101/212431; this version posted November 1, 2017. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.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 4.0 International license. Genetic variation across the human olfactory receptor repertoire alters odor perception Casey Trimmer1,*, Andreas Keller2, Nicolle R. Murphy1, Lindsey L. Snyder1, Jason R. Willer3, Maira Nagai4,5, Nicholas Katsanis3, Leslie B. Vosshall2,6,7, Hiroaki Matsunami4,8, and Joel D. Mainland1,9 1Monell Chemical Senses Center, Philadelphia, Pennsylvania, USA 2Laboratory of Neurogenetics and Behavior, The Rockefeller University, New York, New York, USA 3Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA 4Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina, USA 5Department of Biochemistry, University of Sao Paulo, Sao Paulo, Brazil 6Howard Hughes Medical Institute, New York, New York, USA 7Kavli Neural Systems Institute, New York, New York, USA 8Department of Neurobiology and Duke Institute for Brain Sciences, Duke University Medical Center, Durham, North Carolina, USA 9Department of Neuroscience, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA *[email protected] ABSTRACT The human olfactory receptor repertoire is characterized by an abundance of genetic variation that affects receptor response, but the perceptual effects of this variation are unclear. To address this issue, we sequenced the OR repertoire in 332 individuals and examined the relationship between genetic variation and 276 olfactory phenotypes, including the perceived intensity and pleasantness of 68 odorants at two concentrations, detection thresholds of three odorants, and general olfactory acuity. -
Anti-MRPS18B Antibody
D225370 Anti-MRPS18B antibody Cat. No. D225370 Package 25 μl/100 μl/200 μl Storage -20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol Product overview Description A n ti-MRPS18B rabbit polyclonal antibody Applications ELISA, WB, IHC Immunogen Fusion protein of human MRPS18B Reactivity Human Content 1 mg/ml Host species Rabbit Ig class Immunogen-specific rabbit IgG Purification Antigen affinity purification Target information Symbol MRPS18B Full name mitochondrial ribosomal protein S18B Synonyms PTD017; S18amt; C6orf14; HSPC183; MRPS18-2; HumanS18a; MRP-S18-2 Swissprot Q9Y676 Target Background Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely reSlated to angoneach other than they are to the prok aryBiotic S18 proteins. tPseuedogenches corresponding to this gene are found on chromosomes 1q and 2q. Applications Immunohistochemistry Predicted cell location: Cytoplasm Positive control: Human tonsil Recommended dilution: 25-100 The image on the left is immunohistochemistry of paraffin-embedded Human tonsil tissue using D225370(MRPS18B Antibody) at dilution 1/55, on the right is treated with fusion protein. -
Evolution, Expression and Meiotic Behavior of Genes Involved in Chromosome Segregation of Monotremes
G C A T T A C G G C A T genes Article Evolution, Expression and Meiotic Behavior of Genes Involved in Chromosome Segregation of Monotremes Filip Pajpach , Linda Shearwin-Whyatt and Frank Grützner * School of Biological Sciences, The University of Adelaide, Adelaide, SA 5005, Australia; fi[email protected] (F.P.); [email protected] (L.S.-W.) * Correspondence: [email protected] Abstract: Chromosome segregation at mitosis and meiosis is a highly dynamic and tightly regulated process that involves a large number of components. Due to the fundamental nature of chromosome segregation, many genes involved in this process are evolutionarily highly conserved, but duplica- tions and functional diversification has occurred in various lineages. In order to better understand the evolution of genes involved in chromosome segregation in mammals, we analyzed some of the key components in the basal mammalian lineage of egg-laying mammals. The chromosome passenger complex is a multiprotein complex central to chromosome segregation during both mitosis and meio- sis. It consists of survivin, borealin, inner centromere protein, and Aurora kinase B or C. We confirm the absence of Aurora kinase C in marsupials and show its absence in both platypus and echidna, which supports the current model of the evolution of Aurora kinases. High expression of AURKBC, an ancestor of AURKB and AURKC present in monotremes, suggests that this gene is performing all necessary meiotic functions in monotremes. Other genes of the chromosome passenger complex complex are present and conserved in monotremes, suggesting that their function has been preserved Citation: Pajpach, F.; in mammals. -
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. -
Supplemental Tables4.Pdf
Yano_Supplemental_Table_S4 Gene ontology – Biological process 1 of 9 Fold List Pop Pop GO Term Count % PValue Bonferroni Benjamini FDR Genes Total Hits Total Enrichment DLC1, CADM1, NELL2, CLSTN1, PCDHGA8, CTNNB1, NRCAM, APP, CNTNAP2, FERT2, RAPGEF1, PTPRM, MPDZ, SDK1, PCDH9, PTPRS, VEZT, NRXN1, MYH9, GO:0007155~cell CTNNA2, NCAM1, NCAM2, DDR1, LSAMP, CNTN1, 50 5.61 2.14E-08 510 311 7436 2.34 4.50E-05 4.50E-05 3.70E-05 adhesion ROR2, VCAN, DST, LIMS1, TNC, ASTN1, CTNND2, CTNND1, CDH2, NEO1, CDH4, CD24A, FAT3, PVRL3, TRO, TTYH1, MLLT4, LPP, NLGN1, PCDH19, LAMA1, ITGA9, CDH13, CDON, PSPC1 DLC1, CADM1, NELL2, CLSTN1, PCDHGA8, CTNNB1, NRCAM, APP, CNTNAP2, FERT2, RAPGEF1, PTPRM, MPDZ, SDK1, PCDH9, PTPRS, VEZT, NRXN1, MYH9, GO:0022610~biological CTNNA2, NCAM1, NCAM2, DDR1, LSAMP, CNTN1, 50 5.61 2.14E-08 510 311 7436 2.34 4.50E-05 4.50E-05 3.70E-05 adhesion ROR2, VCAN, DST, LIMS1, TNC, ASTN1, CTNND2, CTNND1, CDH2, NEO1, CDH4, CD24A, FAT3, PVRL3, TRO, TTYH1, MLLT4, LPP, NLGN1, PCDH19, LAMA1, ITGA9, CDH13, CDON, PSPC1 DCC, ENAH, PLXNA2, CAPZA2, ATP5B, ASTN1, PAX6, ZEB2, CDH2, CDH4, GLI3, CD24A, EPHB1, NRCAM, GO:0006928~cell CTTNBP2, EDNRB, APP, PTK2, ETV1, CLASP2, STRBP, 36 4.04 3.46E-07 510 205 7436 2.56 7.28E-04 3.64E-04 5.98E-04 motion NRG1, DCLK1, PLAT, SGPL1, TGFBR1, EVL, MYH9, YWHAE, NCKAP1, CTNNA2, SEMA6A, EPHA4, NDEL1, FYN, LRP6 PLXNA2, ADCY5, PAX6, GLI3, CTNNB1, LPHN2, EDNRB, LPHN3, APP, CSNK2A1, GPR45, NRG1, RAPGEF1, WWOX, SGPL1, TLE4, SPEN, NCAM1, DDR1, GRB10, GRM3, GNAQ, HIPK1, GNB1, HIPK2, PYGO1, GO:0007166~cell RNF138, ROR2, CNTN1, -
DLC1 Expression Is Reduced in Human Cutaneous Melanoma And
Modern Pathology (2014) 27, 1203–1211 & 2014 USCAP, Inc. All rights reserved 0893-3952/14 $32.00 1203 DLC1 expression is reduced in human cutaneous melanoma and correlates with patient survival Cecilia Sjoestroem1, Shahram Khosravi1, Yabin Cheng1, Gholamreza Safaee Ardekani1, Magdalena Martinka2 and Gang Li1 1Department of Dermatology and Skin Science, Vancouver Coastal Health Research Institute, University of British Columbia, Vancouver, BC, Canada and 2Department of Pathology, Vancouver General Hospital, Vancouver, BC, Canada Deleted in Liver Cancer-1 (DLC1) is a Rho-GTPase-activating protein known to be downregulated and function as a tumor suppressor in numerous solid and hematological cancers. Its expression status in melanoma is currently unknown however, prompting us to examine this. Using immunohistochemistry and tissue microarrays containing a large set of melanocytic lesions (n ¼ 539), we examined the expression profile of DLC1 in melanoma progression, as well as the association between DLC1 and patient survival. We detected both cytoplasmic and nuclear DLC1 expression, and found that whereas cytoplasmic DLC1 was significantly downregulated in metastatic melanoma compared with nevi and primary melanoma, nuclear DLC1 expression was significantly down in primary melanoma compared with nevi, and then further down in metastatic melanoma. Loss of cytoplasmic DLC1 was significantly associated with poorer overall and disease-specific 5-year survival rates of all melanoma (Po0.001 and P ¼ 0.001, respectively) and metastatic melanoma patients (P ¼ 0.020 and 0.008, respectively), and similar results were seen for nuclear DLC1 (Po0.001 for both overall and disease-specific survival for all melanoma patients, and P ¼ 0.004 for metastatic melanoma patients). -
Sequences, Annotation and Single Nucleotide Polymorphism of The
Nova Southeastern University NSUWorks Biology Faculty Articles Department of Biological Sciences 6-2008 Sequences, Annotation and Single Nucleotide Polymorphism of the Major Histocompatibility Complex in the Domestic Cat Naoya Yuhki National Cancer Institute at Frederick James C. Mullikin National Human Genome Research Institute Thomas W. Beck National Cancer Institute at Frederick Robert M. Stephens National Cancer Institute at Frederick Stephen J. O'Brien National Cancer Institute at Frederick, [email protected] Follow this and additional works at: https://nsuworks.nova.edu/cnso_bio_facarticles Part of the Genetics and Genomics Commons, and the Zoology Commons NSUWorks Citation Yuhki, Naoya; James C. Mullikin; Thomas W. Beck; Robert M. Stephens; and Stephen J. O'Brien. 2008. "Sequences, Annotation and Single Nucleotide Polymorphism of the Major Histocompatibility Complex in the Domestic Cat." PLoS ONE 7, (3 e2674): 1-17. https://nsuworks.nova.edu/cnso_bio_facarticles/773 This Article is brought to you for free and open access by the Department of Biological Sciences at NSUWorks. It has been accepted for inclusion in Biology Faculty Articles by an authorized administrator of NSUWorks. For more information, please contact [email protected]. Sequences, Annotation and Single Nucleotide Polymorphism of the Major Histocompatibility Complex in the Domestic Cat Naoya Yuhki1*, James C. Mullikin2, Thomas Beck3, Robert Stephens4, Stephen J. O’Brien1 1 Laboratory of Genomic Diversity, National Cancer Institute at Frederick, Frederick, Maryland, -
Cellular and Molecular Signatures in the Disease Tissue of Early
Cellular and Molecular Signatures in the Disease Tissue of Early Rheumatoid Arthritis Stratify Clinical Response to csDMARD-Therapy and Predict Radiographic Progression Frances Humby1,* Myles Lewis1,* Nandhini Ramamoorthi2, Jason Hackney3, Michael Barnes1, Michele Bombardieri1, Francesca Setiadi2, Stephen Kelly1, Fabiola Bene1, Maria di Cicco1, Sudeh Riahi1, Vidalba Rocher-Ros1, Nora Ng1, Ilias Lazorou1, Rebecca E. Hands1, Desiree van der Heijde4, Robert Landewé5, Annette van der Helm-van Mil4, Alberto Cauli6, Iain B. McInnes7, Christopher D. Buckley8, Ernest Choy9, Peter Taylor10, Michael J. Townsend2 & Costantino Pitzalis1 1Centre for Experimental Medicine and Rheumatology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK. Departments of 2Biomarker Discovery OMNI, 3Bioinformatics and Computational Biology, Genentech Research and Early Development, South San Francisco, California 94080 USA 4Department of Rheumatology, Leiden University Medical Center, The Netherlands 5Department of Clinical Immunology & Rheumatology, Amsterdam Rheumatology & Immunology Center, Amsterdam, The Netherlands 6Rheumatology Unit, Department of Medical Sciences, Policlinico of the University of Cagliari, Cagliari, Italy 7Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow G12 8TA, UK 8Rheumatology Research Group, Institute of Inflammation and Ageing (IIA), University of Birmingham, Birmingham B15 2WB, UK 9Institute of -
Detection Rate. FC: Fold Change. GO: Gene Ontology. AUC: Area Under
Figure S1. Flow chart of the study. DR: detection rate. FC: fold change. GO: Gene Ontology. AUC: area under curve. KEGG: Kyoto Encyclopedia of Genes and Genomes. GEO: Gene Expression Omnibus. Figure S2. Independent validation of miRNAs and the classifier. A, ΔCt of 6 selected miRNAs in the independent cohort. *, P < 0.05. **, P < 0.01. ***, P < 0.001. B, Receiver operating curve of the classifier in the independent cohort. AUC: area under curve. Figure S3. Venn of predicted target genes from 3 platforms. Figure S4. GO enrichment analysis. GO: Gene Ontology. Table S1. miRNA expression profile in screening stage. Table S2. miRNA expression profile in validation stage. Table S3. Efficacy of the classifier. Table S4. miRNA expression profile in independent validation stage. Table S5. Predicted target genes. Table S6a. KEGG enrichment analysis. KEGG: Kyoto Encyclopedia of Genes and Genomes. Table S6b. GO_BP enrichment analysis. GO: Gene Ontology. BP: Biological Process. Table S6c. GO_CC enrichment analysis. CC: Cellular Component. Table S6d. GO_MF enrichment analysis. MF: Molecular Function. Table S7. GEO expression array datasets involved in this study. GEO: Gene Expression Omnibus. Table S8a. Predicted target genes covered by the selected GEO datasets. GEO: Gene Expression Omnibus. 1 Table S8b. Expression profiles of predicted target genes of hsa-miR-26b-5p in GEO datasets. Table S8c. Expression profiles of predicted target genes of hsa-miR-146b-5p in GEO datasets. Table S8d. Expression profiles of predicted target genes of hsa-miR-191-5p in GEO datasets. Table S8e. Expression profiles of predicted target genes of hsa-miR-484 in GEO datasets. -
2020 Program Book
PROGRAM BOOK Note that TAGC was cancelled and held online with a different schedule and program. This document serves as a record of the original program designed for the in-person meeting. April 22–26, 2020 Gaylord National Resort & Convention Center Metro Washington, DC TABLE OF CONTENTS About the GSA ........................................................................................................................................................ 3 Conference Organizers ...........................................................................................................................................4 General Information ...............................................................................................................................................7 Mobile App ....................................................................................................................................................7 Registration, Badges, and Pre-ordered T-shirts .............................................................................................7 Oral Presenters: Speaker Ready Room - Camellia 4.......................................................................................7 Poster Sessions and Exhibits - Prince George’s Exhibition Hall ......................................................................7 GSA Central - Booth 520 ................................................................................................................................8 Internet Access ..............................................................................................................................................8 -
Flotillin 1 Antibody (R31142)
Flotillin 1 Antibody (R31142) Catalog No. Formulation Size R31142 0.5mg/ml if reconstituted with 0.2ml sterile DI water 100 ug Bulk quote request Availability 1-3 business days Species Reactivity Human, Mouse, Rat Format Antigen affinity purified Clonality Polyclonal (rabbit origin) Isotype Rabbit IgG Purity Antigen affinity Buffer Lyophilized from 1X PBS with 2.5% BSA and 0.025% sodium azide/thimerosal UniProt O75955 Applications Western blot : 0.5-1ug/ml Limitations This Flotillin 1 antibody is available for research use only. Western blot testing of Flotillin 1 antbody; Lane 1: rat lung; 2: (r) brain; 3: (r) ovary; 4: human SMMC-7721; 5: (h) MFC-7 cell lysate. Expected/observed molecular weight ~49kDa. Description Flotillin 1 is a protein that in humans is encoded by the FLOT1 gene. The International Radiation Hybrid Mapping Consortium mapped the gene to chromosome 6. Bickel et al.(1997) found that mouse Flot1 behaves as a resident integral membrane protein of caveolae. It consistently copurified with Flot2 and with caveolin-1 in the purification of caveolin-rich membranes. Hazarika et al.(1999) found that stable transfection of Flot1, which they called ESA/flotillin-2, in COS-1 cells induced filopodia formation and changed the epithelial morphology to that of neuronal cells. Santamaria et al.(2005) found that prostate tumor overexpressed gene-1 interacted with Flotillin1 in detergent-insoluble membrane fractions. Flotillin1 colocalized with PTOV1 at the plasma membrane and in the nucleus, and it entered the nucleus concomitant with PTOV1 shortly before initiation of S phase. Application Notes The stated application concentrations are suggested starting amounts. -
Cooperative Antiproliferative Effect of Coordinated Ectopic Expression Of
ONCOLOGY LETTERS 12: 1591-1596, 2016 Cooperative antiproliferative effect of coordinated ectopic expression of DLC1 tumor suppressor protein and silencing of MYC oncogene expression in liver cancer cells: Therapeutic implications XUYU YANG1,2, XIAOLING ZHOU1,3, PAUL TONE4, MARIAN E. DURKIN1,5 and NICHOLAS C. POPESCU1,5 1Laboratory of Experimental Carcinogenesis, Center for Cancer Research, National Cancer Institute, National Institutes of Health; 2Section on Cellular Neurobiology, Eunice Kennedy Shriver National Institute of Child Health and Development; 3Laboratory of Cancer Biology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 2089-4262; 4Department of Medicine, Richmond University Medical Center, Staten Island, NY 10310; 5Laboratory of Cellular Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-4262, USA Received November 11, 2015; Accepted June 3, 2016 DOI: 10.3892/ol.2016.4781 Abstract. Human hepatocellular carcinoma (HCC) is one of the injection to mice bearing subcutaneous xenografts of Huh7 cells most common types of cancer and has a very poor prognosis; transfected with shMyc or control shRNA. A cooperative thus, the development of effective therapies for the treatment of inhibitory effect of DLC1 expression and c-Myc knockdown on advanced HCC is of high clinical priority. In the present study, the growth of Huh7-derived tumors was observed, suggesting the anti-oncogenic effect of combined knockdown of c-Myc that targeted liver cell delivery of DLC1 and c-Myc shRNA expression and ectopic restoration of deleted in liver cancer 1 may serve as a possible gene therapy modality for the treatment (DLC1) expression was investigated in human liver cancer of human HCC.