مشخصات کتاب

Functional Analysis of the Human Genome

ویرایش: First edition 
نویسندگان: Cooper. D. N.,  Farzaneh. F  
سری:  
ISBN (شابک) : 9781000102468, 1000119637 
ناشر: Garland Science 
سال نشر: 2020 
تعداد صفحات: 296 
زبان: English 
فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) 
حجم فایل: 45 مگابایت 

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کلمات کلیدی مربوط به کتاب تجزیه و تحلیل عملکردی ژنوم انسان: ژنتیک انسانی،ژنوم انسانی،علم / علوم زیستی / تکامل، علوم / علوم زیستی / عمومی، علوم / علوم زیستی / ژنتیک و ژنومیک، کتاب های الکترونیک

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توضیحاتی درمورد کتاب به خارجی

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.;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.

فهرست مطالب

Cover......Page 1
Half Title......Page 2
Title Page......Page 4
Copyright Page......Page 5
Table of Contents......Page 6
Contributors......Page 12
Abbreviations......Page 14
Preface......Page 18
Acknowledgements......Page 19
Foreword......Page 20
 Introduction......Page 22
  Chromatin structure......Page 23
  Nucleosome positioning......Page 24
  Chiasmata, recombination and recombination hotspots......Page 25
  Scaffold attachment regions......Page 26
  Telomeres......Page 27
  Gene structure and organization......Page 28
  Pseudogenes......Page 29
  Functional organization of human genes......Page 30
 Repetitive sequence elements......Page 32
  Alu sequences......Page 33
  LINE elements......Page 34
  Promoter elements......Page 35
  Enhancers......Page 36
  Negative regulatory elements......Page 37
  Locus control regions......Page 38
  Boundary elements......Page 40
  Sequences involved in transcriptional termination......Page 41
  mRNA splicing and processing......Page 42
  Sequences involved in determining mRNA stability......Page 43
  Distribution of 5-methylcytosine......Page 44
  Role of DNA methylation in the regulation of transcription......Page 45
  Role of DNA methylation in X-inactivation......Page 46
  Changes in DNA methylation during embryogenesis......Page 47
  DNA methylation and imprinting......Page 48
 References......Page 49
 Introduction......Page 64
  Gene sequences......Page 66
  DNA polymorphisms......Page 67
  Sequence-tagged sites......Page 68
  Inter-Alu PCR probes......Page 69
  Somatic cell hybrid analysis......Page 70
  Fluorescence in situ hybridization......Page 71
  Yeast artificial chromosome cloning......Page 72
  Pulsed-field gel electrophoresis and CpG island mapping......Page 73
  Chromosome jumping/linking libraries......Page 74
 Genetic mapping......Page 75
 Transcription map of the human genome......Page 78
 Comparative gene mapping......Page 79
 References......Page 80
 Introduction......Page 90
 Gene detection......Page 91
  Isolation of total RNA......Page 92
  Preparation of cDNA......Page 93
 Library-based cDNA cloning strategies......Page 94
  Screening cDNA libraries......Page 95
 PCR-based isolation of genes from cDNA......Page 97
  Primer design......Page 98
  Primary PCR reaction......Page 99
  Isolation of the 5' end of a cDNA......Page 100
 Expression systems......Page 102
  Expression using E. coli......Page 103
 References......Page 104
 Introduction......Page 108
 The retroviral life cycle......Page 109
 Host range......Page 112
 Replication-defective retroviral vectors......Page 113
 Packaging cell lines......Page 114
 Conditions required for efficient mutagenesis......Page 116
 Mechanisms involved in retroviral insertional mutagenesis......Page 117
 Mutation frequency......Page 119
 Cloning of the sites of provirus integration......Page 120
 Identification of the gene of interest......Page 121
  Library screening by nuclear run-on probes......Page 123
 References......Page 124
 Introduction......Page 130
 Gene trap vectors......Page 131
 Isolation and use of promoter-tagged sites......Page 137
 Insertional mutagenesis in cultured cells......Page 139
 Insertional mutagenesis in mice......Page 140
 Identification of regulated genes......Page 142
 References......Page 145
 What is transfection?......Page 152
 What form should the DNA be in?......Page 153
  Eukaryotic gene transcription......Page 154
  SV40-based plasmids......Page 155
 Specialized eukaryotic host cells......Page 156
  Double insert plasmids......Page 157
  Inducible expression......Page 158
  Epstein–Barr virus-based plasmids......Page 159
 Transfection procedures......Page 161
  Calcium phosphate co-precipitation......Page 162
  DEAE–dextran......Page 163
  Liposomes and lipid-based transfection......Page 164
  Adenovirus and Poly-L-lysine-conjugated complexes......Page 165
  Alternative transfection procedures......Page 166
  Dominant selectable marker genes......Page 167
  Reporter genes......Page 168
  Identification of ligands for novel receptors......Page 169
  Identification of transcription factors......Page 170
 References......Page 172
 Introduction......Page 176
 The adenovirus system as a model......Page 177
  Site selection in the integration of adenovirus DNA......Page 178
  Modes of adenovirus DNA integration – a synopsis of data......Page 180
  Insertion of foreign DNA by a versatile mechanism......Page 184
  Studies on the mechanism of integrative recombination in a cell-free system......Page 186
  De novo methylation of integrated foreign DNA: a cellular defence mechanism?......Page 188
  Initiation of de novo methylation in mammalian cells is not predominantly dependent upon the nucleotide sequence of foreign DNA......Page 190
  Methylation of triplet repeat amplifications in the human genome: manifestation of the cellular defence mechanism......Page 192
 Alterations in patterns of cellular DNA methylation and gene expression as consequences of foreign DNA insertions into mammalian genomes......Page 193
  A fully 5'-CG-3' but not a 5'-CCGG-3' methylated late FV3 promoter retains activity......Page 194
  Topology of the promoter of RNA polymerase II – and III – transcribed genes is modified by the methylation......Page 195
 Uptake of foreign DNA through the gastrointestinal tract......Page 196
 A concept of oncogenesis – implications for gene therapy and research on transgenic organisms......Page 198
 References......Page 199
 Introduction......Page 206
 Methodology......Page 208
 Transgenes to study gene regulation......Page 210
 Transgenes to study gene function......Page 214
  Functional analysis: gain-of-function......Page 215
  Functional analysis: loss-of-function......Page 218
 Conclusions......Page 220
 References......Page 221
 Introduction......Page 228
 Embryonic stem cells......Page 229
  Targeting vectors......Page 230
  Positive–negative selection procedure......Page 233
  Developmental biology......Page 234
  Animal models of human disease......Page 235
 Future perspectives: Cre–LoxP mediated gene targeting......Page 237
 References......Page 238
 Introduction......Page 242
 Principles of somatic cell hybridization......Page 243
  Purine nucleotide synthesis......Page 244
  HPRT variants......Page 245
  Metabolic cooperation......Page 246
  Selection procedures for the isolation of hybrid cells......Page 247
  Extinction and activation......Page 248
  Assignment of complementation groups in clinical diseases......Page 249
  Assignment of complementation groups in senescence......Page 250
  Assignment of complementation groups in cytokine activity......Page 251
  Chromosome segregation......Page 252
  Dominant and recessive events in tumour progression......Page 253
  Dominant and recessive developmentally regulated genes......Page 254
  General principles for micro cell-mediated transfer......Page 255
  Identification of tumour suppressor genes......Page 256
 References......Page 257
 Introduction......Page 262
 Some examples of antisense action in different systems......Page 263
 Targeting and design......Page 264
 Uptake of antisense oligonucleotides......Page 266
 Modifications to the structure of antisense oligonucleotides......Page 267
  Steric inhibition......Page 269
  RNase H-like cleavage of target RNA......Page 270
  Triplex DNA formation......Page 272
 Ribozymes......Page 274
 Non-specific cleavage of host RNA......Page 276
 Therapeutic applications......Page 279
 References......Page 281
Index......Page 288

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