Human molecular genetics:
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Book |
| Language: | English |
| Published: |
Boca Raton, FL ; London ; New York, NY
CRC Press
[2019]
|
| Edition: | Fifth edition |
| Subjects: | |
| Online Access: | Inhaltsverzeichnis |
| Physical Description: | xiii, 770 Seiten Illustrationen, Diagramme |
| ISBN: | 9780815345893 9780367002503 0815345895 |
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Record in the Search Index
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| adam_text | Contents Preface...........................................................................ix About the authors.......................................................xi Contributors............................................................... xiii PART 1 BASICS OF DNA, CHROMOSOMES, CELLS, DEVELOPMENT AND INHERITANCE 1 BASIC PRINCIPLES OF NUCLEIC ACID STRUCTURE AND GENE EXPRESSION........ 3 1.1 Composition of nucleic acids and polypeptides.......................................... 4 1.2 Base pairing in DNA and RNA, the double helix, and DNA replication............................................. 9 1.3 RNA transcription and gene expression............................................. 18 1.4 RNA processing....................................21 1.5 Translation, post-translational processing, and protein structure.... 28 Summary..........................................................39 Further reading.............................................. 40 2 FUNDAMENTALS OF CELLS AND CHROMOSOMES.............................................41 2.1 2.2 2.3 Cell structure and diversity, and cell evolution........................................ 42 DNA and chromosome copy number during the cell cycle............ 51 Cell division and transmission of DNA to daughter cells.........................53 2.4 Structure and function of chromosomes.......................................59 Summary..........................................................67 Further reading...............................................67 3 FUNDAMENTALS OF CELL-CELL INTERACTIONS AND IMMUNE SYSTEM
BIOLOGY..........................................................69 3.1 3.2 Principles of cell signaling................. 69 Cell proliferation and programmed cell death......................76 3.3 Cell adhesion and tissue formation..............................................83 3.4 Immune system biology.................... 88 Summary........................................................104 Further reading.............................................104 4 ASPECTS OF EARLY MAMMALIAN DEVELOPMENT, CELL DIFFERENTIATION, AND STEM CELLS.... 107 4.1 Cell lineages and tissue differentiation in early mammalian development................107 4.2 Stem cells and cell differentiation......124 Summary........................................................134 Further reading............................................. 135 5 PATTERNS OF INHERITANCE......................137 5.1 5.2 5.3 Monogenic versus multifactorial inheritance..........................................138 Mendelian pedigree patterns..........139 Mosaicism and new mutations........146
vi Contents 5.4 Non-Mendelian characters...............150 Summary......................................................156 Further reading........................................... 156 PART 2 UNDERSTANDING GENOMES 6 CORE DNA TECHNOLOGIES: AMPLIFYING DNA, NUCLEIC ACID HYBRIDIZATION, AND DNA SEQUENCING.............................................. 161 6.1 6.2 Cloning DNA in bacterial cells........162 Amplifying DNA by in vitro DNA replication......................................... 170 6.3 Nucleic acid hybridization: principles and uses...........................174 6.4 DNA sequencing principles and Sanger dideoxy sequencing...........183 6.5 Massively-parallel DNA sequencing (next-generation sequencing).......................................186 Summary.....................................................200 Further reading.......................................... 201 7 ANALYZING THE STRUCTURE AND EXPRESSION OF GENES AND GENOMES................................................... 203 7.1 Genome structure analysis and genome projects..............................203 7.2 Basic gene expression analyses...... 219 7.3 High-throughput gene expression analyses......................... 224 7.4 Single-cell genomics....................... 233 Summary.....................................................240 Further reading.......................................... 240 8 PRINCIPLES OF GENETIC MANIPULATION OF MAMMALIAN CELLS...........................................................243 An overview of genome editing, gene silencing, and germ-line transgenesis....244 8.1 Artificial
transfer of genetic material into mammalian cells.......246 8.2 Principles of transgene expression in mammalian cells.......257 8.3 Genome editing using homologous recombination.......... 260 8.4 Genome editing using programmable site-specific endonucleases................................. 263 8.5 Gene silencing................................. 268 8.6 Germ-line transgenesis and transgenic animals...........................271 Summary.....................................................277 Further reading.......................................... 278 9 UNCOVERING THE ARCHITECTURE AND WORKINGS OF THE HUMAN GENOME..... 279 9.1 An overview of the human genome.............................................279 9.2 Gene organization and distribution in the human genome...................... 296 9.3 Heterochromatin DNA and transposon repeats..........................306 9.4 A start on working out how our genome functions............................ 311 Summary.....................................................321 Further reading.......................................... 322 10 GENE REGULATION AND THE EPIGENOME................................................325 10.1 Chromatin accessibility and conformation................................... 326 10.2 Histones and other DNA-binding proteins.............................................328 10.3 Regulation by DNA méthylation and noncoding RNAs....................... 332 10.4 X-inactivation, imprinting, and epigenetic memory......................... 337 10.5 Making the transcript: promoters and enhancers.................................
345 10.6 Post-transcriptional regulation......350 Summary.....................................................355 Further reading.......................................... 356 PART 3 GENETIC VARIATION BETWEEN INDIVIDUALS AND SPECIES 11 AN OVERVIEW OF HUMAN GENETIC VARIATION.................................361 11.1 Origins of DNA sequence variation ....362 11.2 DNA repair........................................366 11.3 Population genomics and the scale of human genetic variation...............371
Contents 11.4 Functional genetic variation and protein variation..............................381 11.5 Extraordinary genetic variation in the adaptive immune system........ 386 Summary.................................................... 395 Further reading.......................................... 396 12 HUMAN POPULATION GENETICS........... 397 12.1 Allele frequencies and genotype frequencies: the Hardy-Weinberg relationship...................................... 397 12.2 Haplotype frequencies and linkage disequilibrium.................... 399 12.3 Changing allele frequencies........... 404 12.4 Population structure and inbreeding.........................................411 Summary.....................................................415 Further reading.......................................... 416 13 COMPARATIVE GENOMICS AND GENOME EVOLUTION...............................419 13.1 Comparative genomics................... 419 13.2 Gene duplication, species differences in gene number, and evolutionary advantages of exons............................................432 13.3 Evolution of mammalian chromosomes.................................. 440 13.4 Regulatory sequence evolution and transposon origins of functional sequences......................448 13.5 Phylogenetics and our place in the tree of life................................... 454 Summary.................................................... 457 Further reading..........................................458 14 HUMAN EVOLUTION.................................461 14.1 Human origins..................................461 14.2
Human evolutionary history from genome sequences..........................467 14.3 Inferring female and male histories using mitochondrial DNA and the Y chromosome...........476 14.4 Health consequences of our evolutionary history........................480 Summary.................................................... 486 Further reading..........................................487 PART4 vii HUMAN GENETIC DISEASE 15 CHROMOSOMAL ABNORMALITIES AND STRUCTURAL VARIANTS................. 491 15.1 Studying human chromosomes.... 491 15.2 Gross chromosome abnormalities..................................497 15.3 Structural variants, microdeletions, and microduplications............................504 Summary..................................................... 512 Further reading.......................................... 513 16 MOLECULAR PATHOLOGY: CONNECTING PHENOTYPES TO GENOTYPES............................................... 515 16.1 Loss of function................................ 516 16.2 Gain of function................................527 16.3 Dynamic mutations: unstable repeat expansions............................ 532 16.4 Molecular pathology of mitochondrial disorders..................535 16.5 Genotype-phenotype correlations......................................538 Summary.....................................................546 Further reading.......................................... 547 17 MAPPING AND IDENTIFYING GENES FOR MONOGENIC DISORDERS............... 549 17.1 Positional cloning seeks to identify disease genes by first mapping them to a precise chromosomal
location.................... 550 17.2 Haplotype sharing and autozygosity.................................... 556 17.3 Whole-exome and wholegenome sequencing allow an unbiased and hypothesisfree approach to identifying the cause of a monogenic condition.......................................... 559 17.4 Strategies for exome-based disease-gene identification.............562 17.5 Confirming that the candidate gene is the correct one.................... 566 Summary.....................................................570 Further reading.......................................... 570
viii Contents 18 COMPLEX DISEASE: IDENTIFYING SUSCEPTIBILITY FACTORS AND UNDERSTANDING PATHOGENESIS....... 573 Introduction............................................... 573 18.1 Investigation of complex disease: epidemiological approaches..........574 18.2 Investigation of complex disease using linkage.....................................577 18.3 Investigation of complex disease using association.............................. 579 18.4 The limitations of genome-wide association studies........................... 588 18.5 What have we learned about the genetics of complex characters?........................................591 Summary..................................................... 594 Further reading...........................................595 19 CANCER GENETICS AND GENOMICS......597 Introduction................................................ 597 19.1 Oncogenes........................................599 19.2 Tumor suppressor genes................ 605 19.3 Key oncogenes and tumor suppressor genes work mainly to regulate cell cycle checkpoints and genome maintenance..............610 19.4 A genome-wide view of cancer......614 19.5 Using our new understanding of cancer................................................ 623 Summary.....................................................627 Further reading...........................................627 PART 5 APPLIED HUMAN MOLECULAR GENETICS 20 GENETIC TESTING IN HEALTHCARE AND THE LAW............................................ 631 20.1 What to test and why...................... 632 20.2 Testing for a specific genetic
variant............................................... 633 20.3 Clinical diagnostic testing.............. 637 20.4 Population screening...................... 642 20.5 Pharmacogenetics and personalized medicine.................... 651 20.6 DNA forensics: identifying individuals and relationships.........657 Summary.....................................................664 Further reading.......................................... 665 21 MODEL ORGANISMS AND MODELING DISEASE..................................667 21.1 An overview of model organisms.... 667 21.2 Cellular disease models.................. 673 21.3 Origins of animal models of genetic disorders............................. 678 21.4 How useful are animal models of genetic disorders?............................685 Summary.....................................................691 Further reading.......................................... 692 22 GENETIC APPROACHES TO TREATING DISEASE................................... 695 22.1 An overview of treating genetic disease and of genetic treatment of disease.......................................... 696 22.2 Treating disease with geneticallyengineered therapeutic proteins..... 699 22.3 Basic principles of gene therapy and RNA therapeutics..................... 703 22.4 The practice of gene augmentation therapy for treating recessively inherited disorders....... 710 22.5 RNA therapeutics, therapeutic genome editing prospects, and genetic approaches to preventing disease.......................... 714 Summary..................................................... 720 Further
reading.......................................... 721 Glossary.............................................................. 723 Index....................................................................743
|
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| dewey-full | 611.01816 |
| dewey-hundreds | 600 - Technology (Applied sciences) |
| dewey-ones | 611 - Human anatomy, cytology, histology |
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| dewey-sort | 3611.01816 |
| dewey-tens | 610 - Medicine and health |
| discipline | Biologie Medizin |
| edition | Fifth edition |
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| spelling | Strachan, Tom 1952- Verfasser (DE-588)11355785X aut Human molecular genetics Tom Strachan, Andrew P Read Fifth edition Boca Raton, FL ; London ; New York, NY CRC Press [2019] © 2019 xiii, 770 Seiten Illustrationen, Diagramme txt rdacontent n rdamedia nc rdacarrier Human molecular genetics Molekulargenetik (DE-588)4039987-4 gnd rswk-swf Humangenetik (DE-588)4072653-8 gnd rswk-swf (DE-588)4123623-3 Lehrbuch gnd-content Molekulargenetik (DE-588)4039987-4 s Humangenetik (DE-588)4072653-8 s DE-604 Read, Andrew P. 1939- Verfasser (DE-588)114651604 aut Digitalisierung UB Regensburg - ADAM Catalogue Enrichment application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=030779486&sequence=000001&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Strachan, Tom 1952- Read, Andrew P. 1939- Human molecular genetics Human molecular genetics Molekulargenetik (DE-588)4039987-4 gnd Humangenetik (DE-588)4072653-8 gnd |
| subject_GND | (DE-588)4039987-4 (DE-588)4072653-8 (DE-588)4123623-3 |
| title | Human molecular genetics |
| title_auth | Human molecular genetics |
| title_exact_search | Human molecular genetics |
| title_full | Human molecular genetics Tom Strachan, Andrew P Read |
| title_fullStr | Human molecular genetics Tom Strachan, Andrew P Read |
| title_full_unstemmed | Human molecular genetics Tom Strachan, Andrew P Read |
| title_short | Human molecular genetics |
| title_sort | human molecular genetics |
| topic | Human molecular genetics Molekulargenetik (DE-588)4039987-4 gnd Humangenetik (DE-588)4072653-8 gnd |
| topic_facet | Human molecular genetics Molekulargenetik Humangenetik Lehrbuch |
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