Prevalenza delle mutazioni TMEM127 nel feocromocitoma sporadico
|
|
- Adelia Moore
- 8 years ago
- Views:
Transcription
1 Prevalenza delle mutazioni TMEM127 nel feocromocitoma sporadico Giuseppe Opocher Veneto Institute of Oncology and Department of Medical and Surgical Sciences, University of Padova, Italy
2 Sympathetic paraganglia secreting chest retroperitoneal
3 Sympathetic paraganglia secreting chest retroperitoneal
4 Parasympathetic paraganglia (non secreting) head neck aortic pulmonary
5 Genetics of Pheochromocytoma / Paraganglioma VHL RET NF1
6 Genetics of Pheochromocytoma / Paraganglioma VHL RET NF1 PHD2 KIF1B SDHB SDHC SDHD
7 Genetics of Pheochromocytoma / Paraganglioma VHL RET NF1 SDHAF2 PHD2 KIF1B SDHB SDHC SDHD
8 Genetics of Pheochromocytoma / Paraganglioma 2010 VHL RET NF1 SDHAF2 PHD2 KIF1B SDHB SDHC SDHD
9 familiarity and type of presentation n= % 90% 80% 70% 39% 12% 60% 50% 40% 30% 91% 100% 61% 88% 20% 10% 0% 9% familial syndromic multifocal wt sporadic mutated
10 Genome wide linkage analysis
11 Limits of FP locus had been redifined to a region containing 205 genes spanning the Mb between Mb and Mb. We used tumor DNA from one of the affected individuals (the index case of family 1) as a template for exon-based sequencing
12 Using this approach, we identified a splice-site variant (IVS3-2A<C) in the provisional transmembrane protein encoding gene TMEM127. This mutation was also present in this individual s germline DNA.
13
14
15
16 mtor Signaling Nutrients Amino acids Energy AMP: ATP AICAR metformin Stress Hypoxia LRP Wnt Frizzled Growth Factors, Hormones, Cytokines, etc. G q/o PI3K LKB1 REDD1/2 Dvl Erk PDK1 PIP 3 PIP 2 AMPK GSK-3 RSK Akt PTEN? TSC2 TSC1 Rheb PRAS40 Rag A/B Rag C/D Raptor G L rapamycin FKBP12 Sin1 Rictor G L mtor mtorc1 mtorc2 mtor HIF-1 VEGF/ Angiogenesis Rho PKC Akt ATG1 p70s6k 4E- BP1 PGC-1 Mitochondrial Metabolism Ribosome Biogenesis mrna translation PPAR Autophagy Cell Growth Transcription Adipogenesis Cytoskeletal Dynamics Actin Organization Survival
17 LETTERS Germline mutations in TMEM127 confer susceptibility to pheochromocytoma Yuejuan Qin 1, Li Yao 1, Elizabeth E King 1, Kalyan Buddavarapu 1, Romina E Lenci 1, E Sandra Chocron 2,3, James D Lechleiter 2,3, Meghan Sass 4, Neil Aronin 4, Francesca Schiavi 5, Francesca Boaretto 5, Giuseppe Opocher 5, Rodrigo A Toledo 6, Sergio P A Toledo 6, Charles Stiles 7, Ricardo C T Aguiar 1,8 & Patricia L M Dahia 1,2,8 America, Inc. All rights reserved. Pheochromocytomas, which are catecholamine-secreting tumors of neural crest origin, are frequently hereditary 1. However, the molecular basis of the majority of these tumors is unknown 2. We identified the transmembrane-encoding gene TMEM127 on chromosome 2q11 as a new pheochromocytoma susceptibility gene. In a cohort of 103 samples, we detected truncating germline TMEM127 mutations in approximately 30% of familial tumors and about 3% of sporadic-appearing pheochromocytomas without a known genetic cause. The wild-type allele was consistently deleted in tumor DNA, suggesting a classic mechanism of tumor suppressor gene inactivation. Pheochromocytomas with mutations in TMEM127 are transcriptionally related to tumors bearing NF1 mutations provisional transmembrane protein encoding gene TMEM127, also known as FLJ20507 (Table 1 and Supplementary Fig. 2a,b). This mutation was also present in this individual s germline DNA, as well as in each of six other affected siblings, but not in samples from two unaffected sibs. We next sequenced germline and/or tumor DNA from an additional 102 index cases with pheochromocytomas, of which 19 had a clear familial history and 83 were apparently sporadic. We detected six other TMEM127 mutations in these samples (Table 1 and Supplementary Fig. 2c). Six of the seven TMEM127 variants were splice-site or nonsense mutations predicted to interrupt the protein reading frame prematurely (Table 1 and Supplementary Fig. 2a,b). In total, we detected four TMEM127 variants (including
18 Genetics of Pheochromocytoma / Paraganglioma VHL RET NF1
19 Genetics of Pheochromocytoma / Paraganglioma VHL RET NF1 SDHAF2 PHD2 KIF1B SDHB SDHC SDHD TMEM 127 SDHA
20 231 soggetti con feocromocitoma sporadico Wilde Type mutati 86% 14%
21 231 soggetti con feocromocitoma sporadico Wilde Type VHL SDHB TMEM127 SDHD RET MEN1 4% 86% 3% 2% 1% 1% 3%
22 TMEM127 mutations 2% of sporadic pheochromocytoma 11% of bilateral adrenal pheochromocytoma 1/20 TMEM127 mutated was malignant
23 In conclusion TMEM127 is a new tumor suppressor gene associated with pheochromocytoma development TMEM127 limits mtorc1 and occupies the same intracellular domain as active mtor
24 In conclusion TMEM127 mutation screening may be recommended for patients presenting at an older age, with adrenal tumors; especially but not exclusively those with bilateral disease
Successes and Limitations of Targeted Therapies in Renal Cell Carcinoma
g Tumor Res. Basel, Karger, 2014, vol 41, pp 98 112 (DOI: 10.1159/000355906) Successes and Limitations of Targeted Therapies in Renal Cell Carcinoma Marc Pracht Dominik Berthold Medical Oncology Unit,
More informationMeccanismi di resistenza all inibizione della via di segnale PI3K/Akt/mTOR nella LAM
Meccanismi di resistenza all inibizione della via di segnale PI3K/Akt/mTOR nella LAM University of Modena and Reggio Emilia Cell Signaling Unit, ChiMOMo Sandra Marmiroli Jessika Bertacchini Laura Mediani
More informationContents. molecular biology techniques. - Mutations in Factor II. - Mutations in MTHFR gene. - Breast cencer genes. - p53 and breast cancer
Contents Introduction: biology and medicine, two separated compartments What we need to know: - boring basics in DNA/RNA structure and overview of particular aspects of molecular biology techniques - How
More informationBreast cancer and the role of low penetrance alleles: a focus on ATM gene
Modena 18-19 novembre 2010 Breast cancer and the role of low penetrance alleles: a focus on ATM gene Dr. Laura La Paglia Breast Cancer genetic Other BC susceptibility genes TP53 PTEN STK11 CHEK2 BRCA1
More informationMUTATION, DNA REPAIR AND CANCER
MUTATION, DNA REPAIR AND CANCER 1 Mutation A heritable change in the genetic material Essential to the continuity of life Source of variation for natural selection New mutations are more likely to be harmful
More informationWhat is Cancer? Cancer is a genetic disease: Cancer typically involves a change in gene expression/function:
Cancer is a genetic disease: Inherited cancer Sporadic cancer What is Cancer? Cancer typically involves a change in gene expression/function: Qualitative change Quantitative change Any cancer causing genetic
More informationISTEP+: Biology I End-of-Course Assessment Released Items and Scoring Notes
ISTEP+: Biology I End-of-Course Assessment Released Items and Scoring Notes Page 1 of 22 Introduction Indiana students enrolled in Biology I participated in the ISTEP+: Biology I Graduation Examination
More informationLecture 3: Mutations
Lecture 3: Mutations Recall that the flow of information within a cell involves the transcription of DNA to mrna and the translation of mrna to protein. Recall also, that the flow of information between
More informationHistopathology and prognosis in renal cancer
Histopathology and prognosis in renal cancer Granular cell Granular cell Granular cell Granular cell Clear cell Chromophobe cell Papillary type 2 Luca Mazzucchelli Istituto cantonale di patologia, Locarno
More informationStructure and Function of DNA
Structure and Function of DNA DNA and RNA Structure DNA and RNA are nucleic acids. They consist of chemical units called nucleotides. The nucleotides are joined by a sugar-phosphate backbone. The four
More informationSickle cell anemia: Altered beta chain Single AA change (#6 Glu to Val) Consequence: Protein polymerizes Change in RBC shape ---> phenotypes
Protein Structure Polypeptide: Protein: Therefore: Example: Single chain of amino acids 1 or more polypeptide chains All polypeptides are proteins Some proteins contain >1 polypeptide Hemoglobin (O 2 binding
More informationTEST AND PRICE LIST FOR NEXT GENERATION SEQUENCING
AIP ALK APC Mutation Detection Techniques Ai Saple Type TAT ATM BAP1 BLM BMPR1A BRCA1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CDK4 CDKN1C CDKN2A CEBPA CEP57 CHEK2 CYLD DDB2 DICER1 DIS3L2 EGFR EPCAM ERCC2 ERCC3 ERCC4
More informationJust the Facts: A Basic Introduction to the Science Underlying NCBI Resources
1 of 8 11/7/2004 11:00 AM National Center for Biotechnology Information About NCBI NCBI at a Glance A Science Primer Human Genome Resources Model Organisms Guide Outreach and Education Databases and Tools
More informationThe sequence of bases on the mrna is a code that determines the sequence of amino acids in the polypeptide being synthesized:
Module 3F Protein Synthesis So far in this unit, we have examined: How genes are transmitted from one generation to the next Where genes are located What genes are made of How genes are replicated How
More informationGenetic information (DNA) determines structure of proteins DNA RNA proteins cell structure 3.11 3.15 enzymes control cell chemistry ( metabolism )
Biology 1406 Exam 3 Notes Structure of DNA Ch. 10 Genetic information (DNA) determines structure of proteins DNA RNA proteins cell structure 3.11 3.15 enzymes control cell chemistry ( metabolism ) Proteins
More informationA systems-approach to understand the regulation of plant growth and biomass production in bioenergy crops
A systems-approach to understand the regulation of plant growth and biomass production in bioenergy crops Camila Caldana camila.caldana@bioetanol.org.br Brazilian Bioethanol Science and Technology Laboratory
More informationAvances en biología molecular en gliomas de alto grado
Avances en biología molecular en gliomas de alto grado Dra. Avelina Tortosa Campus Ciencies de la Salut Bellvitge IDIBELL-Universitat de Barcelona atortosa@ub.edu Goal: to profile a large cohort of GBMs
More informationActivity 7.21 Transcription factors
Purpose To consolidate understanding of protein synthesis. To explain the role of transcription factors and hormones in switching genes on and off. Play the transcription initiation complex game Regulation
More informationHistologic Subtypes of Renal Cell Carcinoma
Histologic Subtypes of Renal Cell Carcinoma M. Scott Lucia, MD Associate Professor Chief of Genitourinary and Renal Pathology Director, Prostate Diagnostic Laboratory Dept. of Pathology University of Colorado
More informationFrom Immunotherapy of Cancer to the Discovery of Kidney Cancer Genes
ISSN 2154-4006 The Genetic Basis of Human Disease zbar Colloquium series on Series Editor: Michael Dean, Ph.D., Head, Human Genetics Section, Senior Investigator, Laboratory of Experimental Immunology
More informationConcluding lesson. Student manual. What kind of protein are you? (Basic)
Concluding lesson Student manual What kind of protein are you? (Basic) Part 1 The hereditary material of an organism is stored in a coded way on the DNA. This code consists of four different nucleotides:
More informationRegents Biology REGENTS REVIEW: PROTEIN SYNTHESIS
Period Date REGENTS REVIEW: PROTEIN SYNTHESIS 1. The diagram at the right represents a portion of a type of organic molecule present in the cells of organisms. What will most likely happen if there is
More informationDNA and the Cell. Version 2.3. English version. ELLS European Learning Laboratory for the Life Sciences
DNA and the Cell Anastasios Koutsos Alexandra Manaia Julia Willingale-Theune Version 2.3 English version ELLS European Learning Laboratory for the Life Sciences Anastasios Koutsos, Alexandra Manaia and
More informationTranslation Study Guide
Translation Study Guide This study guide is a written version of the material you have seen presented in the replication unit. In translation, the cell uses the genetic information contained in mrna to
More informationGENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110
GENETIC TESTING FOR INHERITED MUTATIONS OR SUSCEPTIBILITY TO CANCER OR OTHER CONDITIONS MED207.110 COVERAGE: Pre- and post-genetic test counseling may be eligible for coverage in addition to the genetic
More informationGene Models & Bed format: What they represent.
GeneModels&Bedformat:Whattheyrepresent. Gene models are hypotheses about the structure of transcripts produced by a gene. Like all models, they may be correct, partly correct, or entirely wrong. Typically,
More informationGene and Chromosome Mutation Worksheet (reference pgs. 239-240 in Modern Biology textbook)
Name Date Per Look at the diagrams, then answer the questions. Gene Mutations affect a single gene by changing its base sequence, resulting in an incorrect, or nonfunctional, protein being made. (a) A
More informationGenetics Lecture Notes 7.03 2005. Lectures 1 2
Genetics Lecture Notes 7.03 2005 Lectures 1 2 Lecture 1 We will begin this course with the question: What is a gene? This question will take us four lectures to answer because there are actually several
More informationGenetic diagnostics the gateway to personalized medicine
Micronova 20.11.2012 Genetic diagnostics the gateway to personalized medicine Kristiina Assoc. professor, Director of Genetic Department HUSLAB, Helsinki University Central Hospital The Human Genome Packed
More informationThe Steps. 1. Transcription. 2. Transferal. 3. Translation
Protein Synthesis Protein synthesis is simply the "making of proteins." Although the term itself is easy to understand, the multiple steps that a cell in a plant or animal must go through are not. In order
More informationLECTURE 6 Gene Mutation (Chapter 16.1-16.2)
LECTURE 6 Gene Mutation (Chapter 16.1-16.2) 1 Mutation: A permanent change in the genetic material that can be passed from parent to offspring. Mutant (genotype): An organism whose DNA differs from the
More informationBecker Muscular Dystrophy
Muscular Dystrophy A Case Study of Positional Cloning Described by Benjamin Duchenne (1868) X-linked recessive disease causing severe muscular degeneration. 100 % penetrance X d Y affected male Frequency
More informationLecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs)
Lecture 6: Single nucleotide polymorphisms (SNPs) and Restriction Fragment Length Polymorphisms (RFLPs) Single nucleotide polymorphisms or SNPs (pronounced "snips") are DNA sequence variations that occur
More informationBioBoot Camp Genetics
BioBoot Camp Genetics BIO.B.1.2.1 Describe how the process of DNA replication results in the transmission and/or conservation of genetic information DNA Replication is the process of DNA being copied before
More informationLesson 3 Reading Material: Oncogenes and Tumor Suppressor Genes
Lesson 3 Reading Material: Oncogenes and Tumor Suppressor Genes Becoming a cancer cell isn t easy One of the fundamental molecular characteristics of cancer is that it does not develop all at once, but
More informationUmm AL Qura University MUTATIONS. Dr Neda M Bogari
Umm AL Qura University MUTATIONS Dr Neda M Bogari CONTACTS www.bogari.net http://web.me.com/bogari/bogari.net/ From DNA to Mutations MUTATION Definition: Permanent change in nucleotide sequence. It can
More informationData Analysis for Ion Torrent Sequencing
IFU022 v140202 Research Use Only Instructions For Use Part III Data Analysis for Ion Torrent Sequencing MANUFACTURER: Multiplicom N.V. Galileilaan 18 2845 Niel Belgium Revision date: August 21, 2014 Page
More informationFrom DNA to Protein. Proteins. Chapter 13. Prokaryotes and Eukaryotes. The Path From Genes to Proteins. All proteins consist of polypeptide chains
Proteins From DNA to Protein Chapter 13 All proteins consist of polypeptide chains A linear sequence of amino acids Each chain corresponds to the nucleotide base sequence of a gene The Path From Genes
More informationDNA Replication & Protein Synthesis. This isn t a baaaaaaaddd chapter!!!
DNA Replication & Protein Synthesis This isn t a baaaaaaaddd chapter!!! The Discovery of DNA s Structure Watson and Crick s discovery of DNA s structure was based on almost fifty years of research by other
More informationGene mutation and molecular medicine Chapter 15
Gene mutation and molecular medicine Chapter 15 Lecture Objectives What Are Mutations? How Are DNA Molecules and Mutations Analyzed? How Do Defective Proteins Lead to Diseases? What DNA Changes Lead to
More informationGenomes and SNPs in Malaria and Sickle Cell Anemia
Genomes and SNPs in Malaria and Sickle Cell Anemia Introduction to Genome Browsing with Ensembl Ensembl The vast amount of information in biological databases today demands a way of organising and accessing
More informationName Class Date. Figure 13 1. 2. Which nucleotide in Figure 13 1 indicates the nucleic acid above is RNA? a. uracil c. cytosine b. guanine d.
13 Multiple Choice RNA and Protein Synthesis Chapter Test A Write the letter that best answers the question or completes the statement on the line provided. 1. Which of the following are found in both
More informationChapter 5: Organization and Expression of Immunoglobulin Genes
Chapter 5: Organization and Expression of Immunoglobulin Genes I. Genetic Model Compatible with Ig Structure A. Two models for Ab structure diversity 1. Germ-line theory: maintained that the genome contributed
More informationLecture 8. Protein Trafficking/Targeting. Protein targeting is necessary for proteins that are destined to work outside the cytoplasm.
Protein Trafficking/Targeting (8.1) Lecture 8 Protein Trafficking/Targeting Protein targeting is necessary for proteins that are destined to work outside the cytoplasm. Protein targeting is more complex
More informationProtein Synthesis How Genes Become Constituent Molecules
Protein Synthesis Protein Synthesis How Genes Become Constituent Molecules Mendel and The Idea of Gene What is a Chromosome? A chromosome is a molecule of DNA 50% 50% 1. True 2. False True False Protein
More informationBio 102 Practice Problems Genetic Code and Mutation
Bio 102 Practice Problems Genetic Code and Mutation Multiple choice: Unless otherwise directed, circle the one best answer: 1. Beadle and Tatum mutagenized Neurospora to find strains that required arginine
More informationRNA & Protein Synthesis
RNA & Protein Synthesis Genes send messages to cellular machinery RNA Plays a major role in process Process has three phases (Genetic) Transcription (Genetic) Translation Protein Synthesis RNA Synthesis
More informationOctober 22, 2014. October 23, 2014
Organizers Mercedes Robledo; José María de Campos; Jesús García-Donas, James Gnarra; Eric Jonasch, Mª Elena Kusak; Susi Martinez; Ilene Sussman; Karina Villar Scientific Committee José María de Campos;
More informationThe Human Genome Project
The Human Genome Project Brief History of the Human Genome Project Physical Chromosome Maps Genetic (or Linkage) Maps DNA Markers Sequencing and Annotating Genomic DNA What Have We learned from the HGP?
More informationTranscription in prokaryotes. Elongation and termination
Transcription in prokaryotes Elongation and termination After initiation the σ factor leaves the scene. Core polymerase is conducting the elongation of the chain. The core polymerase contains main nucleotide
More informationBRCA in Men. Mary B. Daly,M.D.,Ph.D. June 25, 2010
BRCA in Men Mary B. Daly,M.D.,Ph.D. June 25, 2010 BRCA in Men Inheritance patterns of BRCA1/2 Cancer Risks for men with BRCA1/2 mutations Risk management recommendations for men with BRCA1/2 mutations
More informationAP BIOLOGY 2010 SCORING GUIDELINES (Form B)
AP BIOLOGY 2010 SCORING GUIDELINES (Form B) Question 2 Certain human genetic conditions, such as sickle cell anemia, result from single base-pair mutations in DNA. (a) Explain how a single base-pair mutation
More information1 Mutation and Genetic Change
CHAPTER 14 1 Mutation and Genetic Change SECTION Genes in Action KEY IDEAS As you read this section, keep these questions in mind: What is the origin of genetic differences among organisms? What kinds
More informationInfluence of Sex on Genetics. Chapter Six
Influence of Sex on Genetics Chapter Six Humans 23 Autosomes Chromosomal abnormalities very severe Often fatal All have at least one X Deletion of X chromosome is fatal Males = heterogametic sex XY Females
More informationDeregolazione dei sistemi di controllo nella cellula neoplastica
1 Lezioni Dipartimento di Oncologia Farmacologia Molecolare Deregolazione dei sistemi di controllo nella cellula neoplastica Massimo Broggini 20 febbraio 2006, 2 Unlimited replicative potential Defective
More informationSummary of Discussion on Non-clinical Pharmacology Studies on Anticancer Drugs
Provisional Translation (as of January 27, 2014)* November 15, 2013 Pharmaceuticals and Bio-products Subcommittees, Science Board Summary of Discussion on Non-clinical Pharmacology Studies on Anticancer
More informationMolecular Genetics. RNA, Transcription, & Protein Synthesis
Molecular Genetics RNA, Transcription, & Protein Synthesis Section 1 RNA AND TRANSCRIPTION Objectives Describe the primary functions of RNA Identify how RNA differs from DNA Describe the structure and
More informationChapter 8: Recombinant DNA 2002 by W. H. Freeman and Company Chapter 8: Recombinant DNA 2002 by W. H. Freeman and Company
Genetic engineering: humans Gene replacement therapy or gene therapy Many technical and ethical issues implications for gene pool for germ-line gene therapy what traits constitute disease rather than just
More informationA 70-year old Man with Pleural Effusion
Mesothelioma Diagnosis: Pitfalls and Latest Updates S Klebe and DW Henderson Recommendations Indisputable malignant cells on cytomorphological criteria which demonstrate a mesothelial phenotype, which
More informationHuman Genome Organization: An Update. Genome Organization: An Update
Human Genome Organization: An Update Genome Organization: An Update Highlights of Human Genome Project Timetable Proposed in 1990 as 3 billion dollar joint venture between DOE and NIH with 15 year completion
More informationNew and old Hereditary forms of Renal Cell Carcinoma. Maria J Merino MD National Cancer Institute Bethesda, MD
New and old Hereditary forms of Renal Cell Carcinoma. Maria J Merino MD National Cancer Institute Bethesda, MD Renal cell carcinoma affects approximately 30,000 individuals per year in the United States
More informationMolecular Diagnostics in Thyroid Cancer
Disclosure Nothing to disclose Jonathan George, MD, MPH Assistant Professor Head and Neck Oncologic & Endocrine Surgery Molecular Diagnostics in Thyroid Cancer Current Practices & Future Trends UCSF Medical
More informationNon Small Cell Lung Cancer: Scientific Discoveries and the Pursuit of Progress
Non Small Cell Lung Cancer: Scientific Discoveries and the Pursuit of Progress Lung Cancer Accounts for 14% of All New Cancer Diagnoses in the United States 1 Lung cancer is the second most common malignancy
More informationMultiple Biomarkers efficiently identify equivalent patient populations (Which marker to use? / How will we know?)
Multiple Biomarkers efficiently identify equivalent patient populations (Which marker to use? / How will we know?) Stephen Friend MD PhD NCPF Workshop IOM/NAS June 8-9, 8 2009 Goal: Identify molecular
More informationNCCN Task Force Report: Optimizing Treatment of Advanced Renal Cell Carcinoma With Molecular Targeted Therapy
S-1 NCCN Task Force Report: Optimizing Treatment of Advanced Renal Cell Carcinoma With Molecular Targeted Therapy Gary R. Hudes, MD; Michael A. Carducci, MD; Toni K. Choueiri, MD; Peg Esper, MSN, MSA,
More informationThe National Institute of Genomic Medicine (INMEGEN) was
Genome is...... the complete set of genetic information contained within all of the chromosomes of an organism. It defines the particular phenotype of an individual. What is Genomics? The study of the
More informationGenBank, Entrez, & FASTA
GenBank, Entrez, & FASTA Nucleotide Sequence Databases First generation GenBank is a representative example started as sort of a museum to preserve knowledge of a sequence from first discovery great repositories,
More informationTest Information Sheet
Test Information Sheet GeneDx 207 Perry Parkway Gaithersburg, MD 20877 Phone: 888-729-1206 Fax: 301-710-6594 E-mail: wecare@genedx.com www.genedx.com/oncology OncoGene Dx: High/Moderate Risk Panel Sequence
More informationCancer: DNA Synthesis, Mitosis, and Meiosis
Chapter 5 Cancer: DNA Synthesis, Mitosis, and Meiosis Copyright 2007 Pearson Copyright Prentice Hall, 2007 Inc. Pearson Prentice Hall, Inc. 1 What Is Cancer? Benign tumors do not invade surrounding tissue
More informationControl of Gene Expression
Control of Gene Expression (Learning Objectives) Explain the role of gene expression is differentiation of function of cells which leads to the emergence of different tissues, organs, and organ systems
More informationTranscription and Translation of DNA
Transcription and Translation of DNA Genotype our genetic constitution ( makeup) is determined (controlled) by the sequence of bases in its genes Phenotype determined by the proteins synthesised when genes
More informationVHL and clear cell Renal Cell Carcinoma. Expression profiling reveals cell of origin. Renal Cell Carcinoma (RCC) Title. VHL syndrome hallmark cancer:
VHL and clear cell Renal Cell Carcinoma Gene expression profiles in renal cell carcinoma October 23, 2014 VHL syndrome hallmark cancer: Clear cell renal cell carcinoma (ccrcc) VHL mutations also a hallmark
More informationMolecular Diagnosis of Gastrointestinal Tumors
Molecular Diagnosis of Gastrointestinal Tumors Zoltan Szentirmay National Institute of Oncology Center of Surgical and Molecular Tumor Pathology EEA and Norwegian Financial Mechanisms in Hungary, Development
More informationtreatments) worked by killing cancerous cells using chemo or radiotherapy. While these techniques can
Shristi Pandey Genomics and Medicine Winter 2011 Prof. Doug Brutlag Chronic Myeloid Leukemia: A look into how genomics is changing the way we treat Cancer. Until the late 1990s, nearly all treatment methods
More informationUsefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers
J. Appl. Genet. 44(3), 2003, pp. 419-423 Short communication Usefulness of polymorphic markers in exclusion of BRCA1/BRCA2 mutations in families with aggregation of breast/ovarian cancers Bohdan GÓRSKI,
More informationAppendix 2 Molecular Biology Core Curriculum. Websites and Other Resources
Appendix 2 Molecular Biology Core Curriculum Websites and Other Resources Chapter 1 - The Molecular Basis of Cancer 1. Inside Cancer http://www.insidecancer.org/ From the Dolan DNA Learning Center Cold
More informationEuropean Medicines Agency
European Medicines Agency July 1996 CPMP/ICH/139/95 ICH Topic Q 5 B Quality of Biotechnological Products: Analysis of the Expression Construct in Cell Lines Used for Production of r-dna Derived Protein
More informationBioinformatics Resources at a Glance
Bioinformatics Resources at a Glance A Note about FASTA Format There are MANY free bioinformatics tools available online. Bioinformaticists have developed a standard format for nucleotide and protein sequences
More informationNuove mutazioni nella leucemia mielomonoci/ca cronica
Nuove mutazioni nella leucemia mielomonoci/ca cronica Firenze 31 marzo 2011 DANIEL A CILLONI UNIVERSITA DEGLI STUDI DI TORINO DIPARTIMENTO DI SCIENZE CLINICHE E BIOLOGICHE c Ros1 Human Human ortholog of
More informationINTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE Q5B
INTERNATIONAL CONFERENCE ON HARMONISATION OF TECHNICAL REQUIREMENTS FOR REGISTRATION OF PHARMACEUTICALS FOR HUMAN USE ICH HARMONISED TRIPARTITE GUIDELINE QUALITY OF BIOTECHNOLOGICAL PRODUCTS: ANALYSIS
More informationHereditary Ovarian cancer: BRCA1 and BRCA2. Karen H. Lu MD September 22, 2013
Hereditary Ovarian cancer: BRCA1 and BRCA2 Karen H. Lu MD September 22, 2013 Outline Hereditary Breast and Ovarian Cancer (HBOC) BRCA1/2 genes How to identify What it means to you What it means to your
More informationCoding sequence the sequence of nucleotide bases on the DNA that are transcribed into RNA which are in turn translated into protein
Assignment 3 Michele Owens Vocabulary Gene: A sequence of DNA that instructs a cell to produce a particular protein Promoter a control sequence near the start of a gene Coding sequence the sequence of
More informationRENAL CANCER PATHOLOGY WHAT REALLY MATTERS? STEWART FLEMING UNIVERSITY OF DUNDEE
RENAL CANCER PATHOLOGY WHAT REALLY MATTERS? STEWART FLEMING UNIVERSITY OF DUNDEE MAJOR PARADIGM SHIFT IN EARLY 1990S IN UNDERSTANDING RENAL CANCER Molecular differential pathology of renal cell tumours
More informationBasic Concepts of DNA, Proteins, Genes and Genomes
Basic Concepts of DNA, Proteins, Genes and Genomes Kun-Mao Chao 1,2,3 1 Graduate Institute of Biomedical Electronics and Bioinformatics 2 Department of Computer Science and Information Engineering 3 Graduate
More informationSpecific problems. The genetic code. The genetic code. Adaptor molecules match amino acids to mrna codons
Tutorial II Gene expression: mrna translation and protein synthesis Piergiorgio Percipalle, PhD Program Control of gene transcription and RNA processing mrna translation and protein synthesis KAROLINSKA
More informationa. Ribosomal RNA rrna a type ofrna that combines with proteins to form Ribosomes on which polypeptide chains of proteins are assembled
Biology 101 Chapter 14 Name: Fill-in-the-Blanks Which base follows the next in a strand of DNA is referred to. as the base (1) Sequence. The region of DNA that calls for the assembly of specific amino
More informationControl of Gene Expression
Control of Gene Expression What is Gene Expression? Gene expression is the process by which informa9on from a gene is used in the synthesis of a func9onal gene product. What is Gene Expression? Figure
More informationFrom DNA to Protein
Nucleus Control center of the cell contains the genetic library encoded in the sequences of nucleotides in molecules of DNA code for the amino acid sequences of all proteins determines which specific proteins
More informationPublic-Private Partnerships in early phase clinical research: Spurring access to innovative therapeutics
EPAAC WP8 Research Forum - 2 July, Sofitel Hotel Europe, Brussels Public-Private Partnerships in early phase clinical research: Spurring access to innovative therapeutics JY Blay, Past President EORTC
More informationpatient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015
patient education Fact Sheet PFS007: BRCA1 and BRCA2 Mutations MARCH 2015 BRCA1 and BRCA2 Mutations Cancer is a complex disease thought to be caused by several different factors. A few types of cancer
More information2006 7.012 Problem Set 3 KEY
2006 7.012 Problem Set 3 KEY Due before 5 PM on FRIDAY, October 13, 2006. Turn answers in to the box outside of 68-120. PLEASE WRITE YOUR ANSWERS ON THIS PRINTOUT. 1. Which reaction is catalyzed by each
More informationPrimePCR Assay Validation Report
Gene Information Gene Name sorbin and SH3 domain containing 2 Gene Symbol Organism Gene Summary Gene Aliases RefSeq Accession No. UniGene ID Ensembl Gene ID SORBS2 Human Arg and c-abl represent the mammalian
More informationCancer Genomics: What Does It Mean for You?
Cancer Genomics: What Does It Mean for You? The Connection Between Cancer and DNA One person dies from cancer each minute in the United States. That s 1,500 deaths each day. As the population ages, this
More informationGene Switches Teacher Information
STO-143 Gene Switches Teacher Information Summary Kit contains How do bacteria turn on and turn off genes? Students model the action of the lac operon that regulates the expression of genes essential for
More informationAdaptive capabilities of the PI3K/Akt/mTOR axis in Acute Myeloid Leukemia revealed by pathway selective inhibition and phosphoproteome analysis
Adaptive capabilities of the PI3K/Akt/mTOR axis in Acute Myeloid Leukemia revealed by pathway selective inhibition and phosphoproteome analysis University of Padova University of Modena and Reggio Emilia
More informationModule 3 Questions. 7. Chemotaxis is an example of signal transduction. Explain, with the use of diagrams.
Module 3 Questions Section 1. Essay and Short Answers. Use diagrams wherever possible 1. With the use of a diagram, provide an overview of the general regulation strategies available to a bacterial cell.
More informationHow many of you have checked out the web site on protein-dna interactions?
How many of you have checked out the web site on protein-dna interactions? Example of an approximately 40,000 probe spotted oligo microarray with enlarged inset to show detail. Find and be ready to discuss
More informationBob Jesberg. Boston, MA April 3, 2014
DNA, Replication and Transcription Bob Jesberg NSTA Conference Boston, MA April 3, 2014 1 Workshop Agenda Looking at DNA and Forensics The DNA, Replication i and Transcription i Set DNA Ladder The Double
More informationMs. Campbell Protein Synthesis Practice Questions Regents L.E.
Name Student # Ms. Campbell Protein Synthesis Practice Questions Regents L.E. 1. A sequence of three nitrogenous bases in a messenger-rna molecule is known as a 1) codon 2) gene 3) polypeptide 4) nucleotide
More informationThe world of non-coding RNA. Espen Enerly
The world of non-coding RNA Espen Enerly ncrna in general Different groups Small RNAs Outline mirnas and sirnas Speculations Common for all ncrna Per def.: never translated Not spurious transcripts Always/often
More information