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9781872748467
Functional Analysis of the Human Genome / Edition 1 available in Hardcover, eBook
Functional Analysis of the Human Genome / Edition 1
by F. Farzaneh, D. N. Cooper
F. Farzaneh
- ISBN-10:
- 1872748465
- ISBN-13:
- 9781872748467
- Pub. Date:
- 06/15/1995
- Publisher:
- Taylor & Francis
- ISBN-10:
- 1872748465
- ISBN-13:
- 9781872748467
- Pub. Date:
- 06/15/1995
- Publisher:
- Taylor & Francis
Functional Analysis of the Human Genome / Edition 1
by F. Farzaneh, D. N. Cooper
F. Farzaneh
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Overview
An excellent review of the relationship between structure and function in the human genome, and a detailed description of some of the important methodologies for unravelling the function of genes and genomic structures.
Product Details
ISBN-13: | 9781872748467 |
---|---|
Publisher: | Taylor & Francis |
Publication date: | 06/15/1995 |
Series: | Human Molecular Genetics Series |
Pages: | 256 |
Product dimensions: | 6.12(w) x 9.19(h) x (d) |
About the Author
Department of Molecular Medicine, King’s College School of Medicine and Dentistry, London, UK. Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Table of Contents
Contributors Abbreviations Preface Foreword /V.A. McKusick 1 Structure and function in the human genome /D.N. Cooper Introduction Chromatin structure and transcription Chromatin structure Nucleosome positioning Transcriptional domains Chiasmata, recombination and recombination hotspots Scaffold attachment regions Centromeres Telomeres Origins of DNA replication Genes Gene structure and organization seudogenes Functional organization of human genes Repetitive sequence elements Tandem repeats Alu sequences LINE elements Endogenous retroviral sequences Transcriptional regulation Promoter elements Enhancers Negative regulatory elements Locus control regions Boundary elements Trans-acting protein factors Sequences involved in transcriptional termination mRNA splicing and processing Sequences involved in determining mRNA stability Role of sequences in 5' untranslated regions DNA methylation Distribution of 5-methylcytosine Replication of the methylation pattern and de novo methylation Role of DNA methylation in the regulation of transcription Role of DNA methylation in X-inactivation Changes in DNA methylation during embryogenesis DNA methylation and imprinting References 2 Mapping the human genome /D.N. Cooper Introduction Markers Gene sequences DNA polymorphisms D-segments Sequence-tagged sites Inter-Alu PCR probes Allele-specific oligonucleotides Cytogenetic mapping Somatic cell hybrid analysis Radiation hybrid mapping Fluorescence in situ hybridization In situ PCR High-resolution physical mapping Yeast artificial chromosome cloning Contig assembly Pulsed-field gel electrophoresis and CpG island mapping Chromosome jumping /linking libraries DNA sequencing Progress in physical mapping Genetic mapping Transcription map of the human genome Comparative gene mapping References 3 Cloning the transcribed portion of the genome /P. Towner Introduction Gene detection Preparation of target material Isolation of total RNA Isolation of mRNA Preparation of cDNA Selection of specific genes Library-based cDNA cloning strategies Construction of a cDNA library Screening cDNA libraries Manipulation of identified cDNA sequences PCR-based isolation of genes from cDNA Primer design Mixed-pool or redundant oligonucleotide primers Primary PCR reaction Isolation of the 3' end of a cDNA Isolation of the 5' end of a cDNA Gene identification by differential display Expression systems Expression using E. coli Eukaryotic expression systems References 4 Retroviral insertional mutagenesis. F. Farzaneh, J. Gaken andS.-U. Gan Introduction The retroviral life cycle Host range Replication-defective retroviral vectors Packaging cell lines Conditions required for efficient mutagenesis Mechanisms involved in retroviral insertional mutagenesis Mutation frequency Multiplicity of infection Mutant selection procedures Cloning of the sites of pro virus integration Construction of genomic libraries PCR-mediated amplification Identification of the gene of interest Identification of common sites of provirus integration Library screening by nuclear run-on probes References 5 Gene entrapment. H. von Melchner and H.E. Ruley Introduction Gene trap vectors Cloning and analysis of flanking sequences Isolation and use of promoter-tagged sites Insertional mutagenesis in cultured cells Insertional mutagenesis in mice Identification of regulated genes References 6 Gene transfer studies. D. Darling and M. Kuiper Introduction What is transfection? What form should the DNA be in? Generalized requirements for eukaryotic gene transcription Eukaryotic gene transcription SV-based plasmids Specialized eukaryotic host cells Specialized plasmids Double insert plasmids Inducible expression Epstein-Barr virus-based plasmids Shuttle vectors Multifunctional plasmids Transfection procedures Calcium phosphate co-precipitation DEAE-dextran Electroporation Liposomes and lipid-based transfection Adenovirus and poly-L-lysine-conjugated complexes Alternative transfection procedures Assays for new protein synthesis Dominant selectable marker genes Reporter genes Analysis of cloned genes Identification of ligands for novel receptors Identification of transcription factors References 7 Foreign DNA integration and DNA methylation patterns /W. Doerfler Introduction The adenovirus system as a model Site selection in the integration of adenovirus DNA Modes of adenovirus DNA integration - a synopsis of data On the mechanism of integrative recombination Insertion of foreign DNA by a versatile mechanism Studies on the mechanism of integrative recombination in a cell-free system De novo DNA methylation of integrated foreign DNA De novo methylation of integrated foreign DNA: a cellular defence mechanism? Initiation of de novo methylation in mammalian cells is not predominantly dependent upon the nucleotide sequence of foreign DNA Methylation of triplet repeat amplifications in the human genome: manifestation of the cellular defence mechanism Alterations in patterns of cellular DNA methylation and gene expression as consequences of foreign DNA insertions into mammalian genomes DNA methylation and gene activity A fully 5'-CG-3' but not a 5'-CCGG-3' methylated late FV3 promoter retains activity Topology of the promoter of RNA polymerase II- and Ill-transcribed genes is modified by the methylation of 5'-CG-3' dinucleotides Impact of 5'-CG-3' methylation on the activity of different eukaryotic promoters: a comparison Uptake of foreign DNA through the gastrointestinal tract A concept of oncogenesis - implications for gene therapy and research on transgenic organisms References 8 Transgenic animals in human gene analysis /F. Theuring Introduction Methodology Transgenes to study gene regulation Transgenes to study gene function Functional analysis: gain-of-function Functional analysis: loss-of-function Conclusions References 9 Homologous recombination /A. Mansouri Introduction Embryonic stem cells Principles of homologous recombination in mammalian cells Targeting vectors Promoterless constructs Positive-negative selection procedure Hit-and-run and in-out targeting strategies Potential of homologous recombination in embryonic stem cells Developmental biology Animal models of human disease Homologous recombination and gene therapy Future perspectives: Cre-LoxP mediated gene targeting References 10 Complementation analysis /A. Patel Introduction Principles of somatic cell hybridization De novo and salvage pathways of nucleotide synthesis Purine nucleotide synthesis The HPRT gene HPRT variants Pyrimidine nucleotide synthesis Metabolic cooperation The HAT selection system Selection procedures for the isolation of hybrid cells Identification of complementation groups and topological relationships Extinction and activation Assignment of complementation groups in clinical diseases Assignment of complementation groups in senescence Assignment of complementation groups in biochemical pathways Assignment of complementation groups in cytokine activity Identification of the dominant /recessive nature of genetic lesions Chromosome segregation Dominant and recessive genetic changes involved in senescence Dominant and recessive nature of viral genes Dominant and recessive events in tumour progression Dominant nature of multi-drug resistance genes Dominant and recessive events involved in the immunological process Dominant and recessive developmentally regulated genes Microcell fusion: principles and application to the chromosomal localization of genes Introduction to microcell fusion General principles for microcell-mediated transfer Pinpointing chromosomes involved in specific disease processes Identification of tumour suppressor genes Identification of genes involved in cellular senescence References 11 Antisense oligonucleotides: a survey of recent literature, possible mechanisms of action and therapeutic progress /D. Pollock andj. Gaken Introduction Some examples of antisense action in different systems Targeting and design Uptake of antisense oligonucleotides Toxicity of antisense oligonucleotides Modifications to the structure of antisense oligonucleotides Possible mechanisms of action Steric inhibition RNase H-like cleavage of target RNA Triplex DNA formation Double-stranded oligonucleotides Circular oligonucleotides Ribozymes Non-specific cleavage of host RNA Therapeutic applications References Index.From the B&N Reads Blog
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