Holdings: Human molecular biology

Human molecular biology: an introduction to the molecular basis of health and disease

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Bibliographic Details
Main Author:	Epstein, Richard J. (Author)
Format:	Book
Language:	English
Published:	Cambridge [u.a.] Cambridge Univ. Press 2003
Edition:	1. publ.
Subjects:	Biologie humaine Biologie moléculaire Moleculaire biologie Pathologie moléculaire Genetic Diseases, Inborn Human biology Metabolism Molecular Biology Molecular biology Pathology, Molecular Molekulare Medizin Molekularpathologie Lehrbuch
Online Access:	Inhaltsverzeichnis
Physical Description:	XXXI, 623 S. zahlr. Ill., graph. Darst.
ISBN:	052164481X 052164285X

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adam_text	Contents in brief I From molecular biology to human genetics 1 1 Biomolecular evolution 9 2 Chromatin and chromosomes 49 3 Gene expression 77 4 RNA processing and translation 96 5 Protein structure and function 114 II From molecular genetics to human biochemistry 1 1 , 6 Nutrition and energy 147 7 Membranes and channels 173 8 Cell surface receptors and antigernetognition 193 9 Adhesion molecules and the extracellular matrix 209 10 Cytoskeletal proteins and molecular motors 235 III From molecular biochemistry to human cell biology 251 11 Signal transduction 253 12 Bioactive lipids and inflammatory rytokines 288 13 Hormones and growth factors 312 14 Hemopoietins, angiogenms, and vasoactivo mediator 33? 15 Cell cycle control, apoptosts, and ageing 356 IV From molecular cell biology to human physiology 389 16 Development 391 17 Metabolism 415 18 Blood 449 I Contents in brief 19 Immunity 473 20 Neurobiology 491 V From molecular physiology to human molecular biology 531 21 Genetic experimental systems 533 22 Gene and protein analysis 546 23 Genetic engineering, gene mapping, and gene testing 562 24 Gene knockouts, transgenics, and cloning 577 25 Gene therapy and recombinant DNA technology 587 Index 603 Contents in detail Preface pagexa Acknowledgements xxiv Read me first... xxv Glossary xxvii Introduction: A disease for every gene? 3 Medicine is now about molecules 4 Molecules are easy to understand 5 I From molecular biology to human genetics 1 Biomolecular evolution 9 Atoms and elements 10 Sunlight supplies energy for life on Earth 10 Molecules are formed by covalent bonding of atoms 11 Animals use oxygen to burn ingested nutrients 13 Oxygen pulls electrons off hydrogen donors 14 Carbon confers complexity on living molecules 15 Organic molecules 17 Proteins are functional amino acid chains 17 Phosphate groups transfer energy between proteins 18 Genes are used by proteins to make more proteins 20 Evolution conserves informative gene sequences 21 Nucleic acids 22 Nucleotides are base sugar phosphate building blocks 22 Efficient nucleoside excretion is needed for nitrogen balance 25 Nucleic acids transmit data via complementary base pairs 27 Ribonucleic acid can act as a template, adaptor or enzyme 29 Genes use double stranded nucleic acids to store information 30 DNA repair and recombination 31 DNA repair enzymes maintain genetic integrity 31 Mutations differ in their phenotypic consequences 34 Sex promotes allelic variation via DNA recombination 35 Cells and genomes 37 Bacteria are the genetic ancestors of human cells 37 A cell is a self replicating gene machine 38 Mitochondrial DNA is maternally transmitted 39 Repetition and variation 40 Introns accelerate evolution by splitting genes 40 I Contents in detail Genomes accumulate destabilizing repeat sequences 42 Transposons proliferate by jumping through genomes 44 Genetic lineages are identifiable by satellite DNA 46 Summary 47 Enrichment reading 47 Quiz questions 48 2 Chromatin and chromosomes 49 Chromatin structure 50 Genomes are characterized by a multilayer architecture 50 Eukaryotic DNA is organized by chromatin proteins 52 Chromatin controls DNA accessibility 53 Acetylation of histone proteins permits gene activation 54 Epigenetic gene repression is transmitted by DNA methylation 56 Gene methylation predisposes to CG— TA mutations 58 DNA synthesis 60 Nucleic acids are synthesized by polymerases 60 Replicated DNA is packaged within chromosomes 62 DNA synthesis is initiated at multiple chromosomal sites 64 Chromosome division 65 Meiotic cell division converts diploidy to haploidy 65 Massive chromosomal compaction occurs during mitosis 67 Mitotic spindles bind centromeric DNA via kinetochores 69 Chromosomal maintenance 71 Chromosome tips are capped by telomeric nucleoproteins 71 Telomerases maintain ageing chromosomes 72 Topoisomerases are DNA nicking enzymatic swivels 74 Summary 76 Enrichment reading 76 Quiz questions 76 3 Ccne expression 77 The genetic code 78 Nucleic and amino acids share a structure function continuum 78 Triplet nucleotide codons are read in frame 79 DNA transcription 81 A multienzyme complex transcribes DNA into RNA 81 Transactivators consist of functionally distinct modular domains 83 Transcription factors 85 Trans acting proteins bind cis acting DNA sequences 85 Preinitiation transcription complexes assemble on promoters 86 Enhancers recruit transcription factors to active genes 87 Differential dimerization fine tunes transcription factor activity 89 Gene regulation 90 Inhibitory transcription factors silence gene activity 9 Changes in gene expression regulate growth and metabolism 92 Differentiated cells express tissue specific gene subsets 94 Summary 95 ¦x I Contents in detail Enrichment reading 95 Quiz questions 95 4 UNA processing and translation 96 RNA function 97 RNA has different forms and functions 97 Messenger RNA is regulated at multiple levels 98 Primary transcripts are capped and tailed 99 Mature transcripts are derived by intron excision 100 RNA processing 101 Snurps catalyze messenger RNA splicing 101 Alternative splicing diversifies cell behavior 102 Processed messenger RNA sequences may undergo editing 104 PolyfA) tails protect transcripts from degradation 106 Translational control 108 Ribosomal RNAs link to messenger RNAs via transfer RNAs 108 Amino acids and transfer RNAs are coupled by aminoacylation 108 Translation involves initiation, elongation, and termination 109 mRNA functionality varies with translational efficiency 111 Summary 113 Enrichment reading 113 Quiz questions 113 5 Protein structure and function 114 Protein structure 115 Proteins are amino acid polymers 115 Amino acid solubility influences polypeptide packing 116 Linear polypeptides form helices and sheets 117 Protein folding is stabilized by higher order interactions 119 Chaperones assist protein transport by altering folding 120 Protein function 122 Different polypeptide domains serve distinct functions 122 Allosteric transitions regulate proteins by remote control 124 Precursor proteins may be activated by proteolysis 125 Intracellular proteins switch functions by phosphorylation 127 Glycosylation enhances the stability of extracellular proteins 128 Protein trafficking 131 Newly synthesized proteins undergo intracellular routing 131 Organelle address codes specify protein fates 131 Fatty tags target proteins to membranes 133 Secretion is signaled by a cleavable leader sequence 134 Nuclear entry is specified by acidic localization sequences 136 Protein degradation 137 Polypeptides targeted to lysosomes are destroyed 137 Ubiquitin marks proteins for proteasomal destruction 138 Insoluble amyloid polymers resist degradation 139 Brain damage can be caused by a killer APP 141 Summary 142 I Contents in detail Enrichment reading 143 Quiz questions 143 II From molecular genetics to human biochemistry 6 Nutrition and energy 147 Vitamins 148 Normal cell function requires exogenous nutrients 148 Vitamin C is an antioxidant needed for collagen synthesis 149 B group vitamins are coenzyme precursors 151 Single carbon reactions require water soluble vitamins 153 A metal carbon bond in vitamin B12 provides reactivity 155 Homocysteine causes oxidative damage to endothelial cells 156 Minerals 158 Dietary trace elements maintain protein function 158 Copper regulates cellular oxidation and respiration 160 Tissues store intracellular iron bound to ferritin 161 Transferrin transports extracellular iron to cells 163 Sugars 164 Carbohydrate catabolism provides energy 164 Insulin drives efficient cellular utilization of plasma nutrients 165 Aerobic metabolism enhances ATP yield from glucose 165 Fats 167 Dietary fatty acids are converted to acetyl CoA by p oxidation 167 Upoproteins are circulating apoprotein sandwiches 169 Plasma lipids are transported by Upoproteins 170 Summary 171 Enrichment reading 171 Quiz questions 172 7 Membranes and channels 173 Membranes 174 Hydrophobic membranes divide cells into compartments 174 Surface glycolipids protect and insulate cells 175 Bacterial cell wall transpeptidases bind p lactam rings 177 Intercellular communication 178 Intercellular information is exchanged by cell contact 178 Cells communicate via connexins 178 Vesicles shuttle proteins between cell compartments 180 Ion channels, pumps, exchangers, and transporters 181 Solutes cross membranes via pumps 181 Ion channels are transmembrane protein pores 184 Transmembrane ionic flux is gated by voltage or ligands 187 Transporters use ions to drive macromolecular transit 189 Summary 192 » I Contents in detail Enrichment reading 192 Quiz questions 192 8 Cell surface receptors and antigen recognition 193 Cell surface receptors 194 Extracellular events trigger intracellular signaling 194 Ligands induce conformational changes in receptors 195 Transmembrane receptors are catalytic or noncatalytic 196 Activated receptors may internalize, recycle, or degrade 197 Antigen recognition 198 Immunoglobulin like domains make proteins sticky 198 Hypervariable antibody loops bind complementary antigens 199 Immune complexes are cleared by Fc receptors 201 T cell receptors 203 i T cell receptors are multisubunit signaling complexes 203 MHC proteins present processed peptides to T cell receptors 204 T cell coreceptors interact with MHC proteins 206 Summary 208 Enrichment reading 208 Quiz questions 208 9 Adhesion molecules and the extracellular matrix 209 Cell adhesion 210 Cells contact each other via adhesion molecules 210 Cadherins mediate homotypic epithelial cell aggregation 211 Adhesion and transcription are linked by p catenin 213 Inflammatory adhesins 216 Inflammation upregulates adhesion molecule function 216 Leukocytes adhere to inflamed tissues 217 Mucin activated selectins tether leukocytes to the endothelium 218 Leukocyte chemotaxis is regulated by soluble chemoattractants 219 Chemokine receptors activate leukocyte motility 220 Integrins 222 Integrins are integral membrane proteins that integrate signals 222 Outside in and inside out signals are routed via integrins 224 RGD sequences in matrix proteins activate integrins 225 Extracellular matrix 226 The extracellular matrix is full of GAGs 226 Collagens are triple helical crosslinkers and integrin ligands 227 Proteases 228 Secreted proteases attack specific substrates 228 Elastin maintains the tensile strength of connective tissues 230 Matrix metalloproteinases facilitate tissue remodeling 231 Cells and tissues alter phenotype via protease inhibition 232 Summary 234 Enrichment reading 234 Quiz questions 234 I Contents in detail 10 Cytoskeletal proteins and molecular motors 235 Cytoskeleton 236 Cytoskeletal proteins sense extracellular contacts 236 Microtubules contain GTP dependent tubulin polymers 237 Intermediate filaments maintain cell integrity 238 Actin is a microfilamentous protein with ATPase activity 239 Ankyrin anchors actin to spectrin 242 Dystrophin contacts the extracellular matrix via DAGs 243 Molecular motors 244 NTPases regulate the movement of motor proteins 244 Myosin powers muscle contraction 246 Kinesin and dynein catalyze mitotic spindle polarization 248 Summary 249 Enrichment reading 249 Quiz questions 249 III From molecular biochemistry to human cell biology 11 Signal transduction 253 Signal initiation 254 Proteins signal via inducible phosphorylation events 254 Phosphorylated amino acids bind specific target motifs 255 SH2 and SH3 domains form plug in binding sites 256 Antigens activate immune cells via cytosolic tyrosine kinases 258 Growth factors cause receptor tyrosine kinases to dimerize 259 Receptor downregulation short circuits ligand signaling 260 Signaling cascades 263 ATP dependent kinase signaling is reversed by phosphatases 263 Serine threonine kinases phosphorylate consensus sequences 264 Cell growth is driven by the Ras Raf MAP kinase pathway 266 Effectors and second messengers 269 Signaling pathways link effectors and second messengers 269 Intracellular free calcium activates enzymes 271 Calcium stimulates its own release in nerve and muscle 272 G proteins 274 Fluid balance is regulated by guanylyl cyclases 274 GTP binding heterotrimers are molecular switches 275 Effector signaling is triggered by G protein subunit interaction 276 Peptide hormones activate G protein coupled receptors 278 Signal control and termination 279 Downstream signaling may be inhibited by G proteins 279 Chronic agonist exposure causes receptor desensitization 280 Ligand antagonists enhance receptor sensitivity 281 Small GTP binding proteins diversify membrane signaling 283 GTPase activating proteins (GAPs) terminate Ras signaling 285 Summary 286 Enrichment reading 287 Quiz questions xiii I CMtMts in detail 12 Bioactive lipids and inflammatory cytokines 288 Lipid signaling 289 Lipids transduce signals from membranes 289 Cells relieve stress by activating a lipid protein kinase cascade 290 Eicosanoids 292 Arachidonic acid is oxidized to eicosanoids 292 Prostaglandins and leukotrienes regulate local inflammation 293 Eicosanoid biosynthesis is a key therapeutic drug target 295 Cyclooxygenase isoforms exert different effects 296 Cytokines 297 Interleukins control leukocyte function during inflammation 297 Tumor necrosis factor contributes to septic shock 299 Interferons are antiproliferative cytokines 301 Cytokine signaling 302 Host antiviral gene products are induced by viral RNAs 302 Hemopoietins and cytokines bind noncatalytic receptors 303 Cytokine receptors activate the Jak STAT signaling pathway 305 Nonimmune host defences 306 Complement proteins lag antigens for phagocytosis 306 Dcfensins kill microbes by permeahili/aiion 308 Chronic inflammation causes amyloid deposition 309 Summary 310 Enrichment reading 310 Quiz questions 311 13 Hormones and growth factors 312 Hormone biosynthesis 313 Hormones are derived from cholesterol or amino acids 313 Inactive precursors may be converted to active hormones 314 Steroid hormones 315 Steroid hormones are synthesized by metabolic interconversion 315 Transformed steroid receptors translocate to the nucleus 316 Hormone blockade may cause or revert disease 317 Receptor DNA interactions determine gene expression 319 Peptide hormones 320 Most brain hormones activate G protein coupled receptors 320 Brain and gut hormones may be identical 322 Inhibitory hormones regulate hypothalamo pituitary function 323 Polypeptide growth factors 325 Body size is controlled by circulating factors 325 IGFs mediate the anabolic effects of growth hormone 326 Tissue growth factors are local effectors of hormone signaling 328 ErbB2 amplifies ambient growth factor function 330 Wound healing involves stromal epithelial crosstalk 331 Extracellular binding proteins modulate TGFp signaling 333 Summary 336 Enrichment reading 336 Quiz questions 336 I Contents in detail 14 Hemopoietins, angiogenins, and vasoactive mediators 337 Hemopoietic growth factors 338 Blood production depends on pluripotential stem cells 338 Bone marrow function is driven by growth factors 339 Hemopoietic growth factors vary in target cell specificity 341 Angiogenic factors 343 Endothelial cell mitogens stimulate blood vessel formation 343 Tissue vascularity is regulated by fibroblast growth factors 344 Vascular proliferation is constrained by angioinhibitors 345 Vasoactive mediators 347 Pressor molecules may act in part by increasing blood volume 347 Renin and ACE activate aldosterone and angiotensin synthesis 348 Endothelins are potent vasoconstrictors and inotropes 350 Nitric oxide 351 Nitric oxide enhances blood flow 351 Extravascular tissues respond to nitric oxide 352 Summary 354 Enrichment reading 355 Quiz questions 355 15 Cell cycle control, apoptosis, and ageing 356 Cell cycle control genes 357 Chromosomes separate and rejoin in a cyclical fashion 357 Cell cycle checkpoints restrain cell growth 358 Cyclins are molecular timers for cell cycle progression 359 Cyclin dependent kinases drive cell growth transitions 360 Cdk inhibitors can convert growth to differentiation 362 Growth and growth control genes 363 Proto oncogenes encode proteins that activate cell growth 363 Tumor suppressor genes control cell cycle progression 365 BRCA proteins are sensors of DNA damage 368 Cancers accumulate dozens of genetic errors 369 A mutant pocket protein predisposes to retinoblastoma 370 DNA damage induces p53 expression and Gj S arrest 372 Loss of p53 function causes genetic instability 375 Apoptosis and ageing 377 Genetically damaged cells undergo repair or apoptosis 377 ATM is needed for p53 dependent growth arrest 379 Life and death are decided by the Bcl2/Bax balance 380 A killer enzyme cascade triggers DNA fragmentation 382 Proteases and nucleases autodigest doomed cells 383 Ageing is the p53 dependent play off of apoptosis and cancer 386 Summary 387 Enrichment reading 387 Quiz questions 388 xv I Contents in detail IV From molecular cell biology to human physiology 16 Dovolopmont 391 Embryonic induction 392 life begins when egg integrins meet sperm ADAMs 392 Maternal messages control early embryonic development 393 Embryonic induction determines body patterns 394 Morphogenetic fields 395 Morphogenetic gradients specify embryo spatial organization 395 Developmental cell fate is specified by Wnts 396 Patched inhibits Smoothened in the absence of Hedgehogs 398 Retinoids are potent morphogens and teratogens 399 Homeobox gene clusters are activated in sequence 401 Differentiation 402 Cell growth and differentiation are often inversely related 402 Differentiation is inducible by tissue specific gene silencing 404 Muscles develop in response to the master gene MyoD 404 Genomic imprinting 406 Maternal and paternal alleles are separately imprinted 406 Chromosomal disomy decouples parental gene expression 408 Sex development 409 Females are mosaics of inactivated X chromosomes 409 Pseudautosomal regions express homologous X and Y alleles 411 Sex is decided by a Y chromosomal transcription factor 412 Summary 414 Enrichment reading 414 Quiz questions 414 17 Metabolism 4i5 Bone metabolism 416 Cholecalciferol regulates calcium metabolism 416 Control of parathyroid hormone is driven by CaR 417 Alternative splicing of the CGRP gene yields calcitonin 419 Bone growth is controlled by growth factors and cytokines 420 Estrogen inhibits osteoporosis by modulating cytokine release 421 Bone forming and bone resorbing activities are coupled 423 Carbohydrate metabolism 425 Hypothalamic neuropeptides regulate appetite 425 Leptin increases energy expenditure and reduces feeding 426 Sugars require transport across membranes 428 Insulin prevents oxidant damage to microvascular endothelium 429 Diabetes results from the interplay of genes and environment 431 JJpid metabolism 432 Mobilization of fat varies with metabolic rate 432 HMG CoA reductase modulates cholesterol synthesis 435 Hypercholesterolemia downregulates LDL receptors 436 HDLs mediate reverse cholesterol transport 437 I Contents in detail Orphan nuclear receptors 439 Rexinoid receptors regulate cytochrome P450 genes 439 PPARs direct lipid and glucose metabolism 441 Xenobiotic metabolism and pharmacogenetics 442 Toxins are eliminated by hepatic mixed function oxidases 442 Xenobiotic metabolizing enzymes are inducible by drugs 444 Genetic polymorphisms determine individual drug sensitivity 446 Summary 448 Enrichment reading 448 Quiz questions 448 18 Blood 449 Tissue oxygenation 450 Oxygen acquires reactivity on entering cells 450 Hypoxia triggers a series of adaptive molecular responses 451 Hemoglobin 452 Globin proteins transport oxygen to tissues 452 Hemoglobin gene clusters are switched on and off in utero 453 Tetramers of hemoglobin allosterically bind and release oxygen 455 Heme proteins are formed from porphyrin precursors 457 Bilirubin is a breakdown product of heme metabolism 459 Blood groups 461 ABH antigens are red cell membrane carbohydrates 461 Glycosyltransferase genes specify ABO blood groups 461 Rh negative recipients are alloimmunized by group D donors 462 Coagulation 463 Tissue injury activates platelets and hemostatic enzymes 463 Cleaved von Willebrand factor affects coagulation and platelets 464 Coagulation is catalyzed by a proteolytic cascade 465 Vitamin K activates coagulation factors via 7 carboxylation 467 Thrombin promotes clot formation via two distinct pathways 468 Endogenous anticoagulants prevent thromboembolism 470 Summary 471 Enrichment reading 472 Quiz questions 472 19 Immunity 473 Antibody function 474 Immunoglobulin specificity derives from V(D)J exon variation 474 Germline immunoglobulin gene diversity is generated by RAGs 475 Somatic hypermutation drives antibody maturation 476 Immune surveillance 478 T cells talk to B cells via reciprocal ligand receptor interactions 478 Thymic cell fate depends on T cell signal duration 480 Immediate hypersensitivity reactions are caused by IgE 481 Innate immunity takes its Toll on microbes 482 Unstable viruses and retroviruses evade the immune system 483 Immune tolerance 485 Tolerance arises due to T cell clonal anergy or deletion 485 xvii I Contents in detail Inhibition of calcineurin prevents graft rejection 487 Superantigens are non MHC restricted I cell activators 488 Summary 489 Enrichment reading 489 Quiz questions 490 20 Neurobiology 491 Neurotransmitter molecules 492 Nerve impulses are propagated by membrane depolarization 492 Neuronal G protein coupled receptors gate synaptic channels 493 Vesicle membrane fusion triggers neurotransmitter release 495 Inhibitory neurotransmitters induce neuronal hyperpolarization 497 Excitatory molecules 499 Glutamate receptors may be both ligand and voltage gated 499 Excess glutamatergic signaling triggers neuronal necrosis 500 Nerve growth factors promote neurite sprouting 502 Sensory molecules 504 Tactile stimuli activate mechanically gated ion channels 504 Hearing requires hair cell depolarization 505 Substance P mediates pain sensation 506 Opioids prevent pain by inhibiting adenyl cyclasc 508 GI)I( is the target of a smell receptor superfaniily 510 Taste is transmitted by either ions or Ct proteins 511 Light is sensed by 11 cis retinal bound to rhodopsin 513 Retinal pigments absorb light at different wavelengths 515 Rod cell cation channels are active in the dark 516 Neuronal biorhythms are set by oscillators 517 Thinking molecules 518 Long term potentiation of synapses enhances learning 518 Memory requires calcium/calmodulin dependent kinase II 520 Trinucleotide inserts in neuron DNA are prone to amplification 521 Normal protein degradation is needed for neuron survival 522 Dopamine receptors regulate reward seeking behaviors 524 Aggression and depression are influenced by serotonin 526 Dopamine and serotonin are degraded by monoamine oxidases 527 Summary S28 Enrichment reading 528 Quiz questions 529 V From molecular physiology to human molecular biology 21 Genetic experimental systems 533 Unicellular test systems 534 Genetic analysis demands a variety of test systems 534 Rapid growth and gene transfer promote bacterial selection 535 Yeast cells mimic the genetic machinery of higher eukaryotes 537 I Contents in detail Multicellular test systems 538 Worms provide a defined multicellular analytic system 538 Mutational phenotypes are readily characterized in fruit flies 539 Single gene defects may be modeled in animals 541 Human genomes can be analyzed by computational biology 542 Summary 544 Enrichment reading 544 Quiz questions 545 22 Gene and protein analysis 546 Gels and membranes 547 Proteins and nucleic acids can be separated within gels 547 Molecules in gels are transferred to membranes by blotting 548 Nucleic acid detection 549 DNA structure can be assayed directly or indirectly 549 Polymerase chain reactions amplify primed DNA sequences 550 Gene chips create barcodes of mRNA expression patterns 551 Protein detection 552 Proteins are identified by immunologic and physical methods 552 Proteomics connects cell behavior and protein function 554 Three dimensional protein structures can be solved in silico 555 Isotopic and ultrastructural analysis 557 i Radioisotopes are used to label target molecules 557 Cell metabolism is measurable using NMR spectroscopy 559 Summary 561 Enrichment reading 561 Quiz questions 561 23 Genetic engineering, gene mapping, and gene testing 562 Constructs and vectors 563 Genes are packaged into vectors for expression in vitro 563 Promoter choice influences recombinant gene inducibility 564 Reporter systems 565 Reporter genes monitor efficiency of target gene expression 565 Green fluorescent protein localizes target molecules in vivo 566 Gene mapping 567 Genes are hunted using different mapping strategies 567 In situ hybridization localizes gene sequences to chromosomes 568 Gene cloning 569 Gene cloning depends upon the detection of rare events 569 Localized genes may be cloned by function or position 570 Functional genomics 572 Normal gene function is elucidated by mutational analysis 572 Genetic polymorphisms may have functional significance 573 Modifier genes regulate occurrence of polygenic diseases 574 Summary 576 Enrichment reading 576 Quiz questions 576 xix I Contents in detail 24 Cone knockouts, transgenics, and cloning 577 Synteny and orthology 578 Gene defects can cause similar syndromes across species 578 Homologous mutations support animal model relevance 579 Embryo cloning 581 Transgenes are propagated in germ cells, zygotes or embryos 581 Mammals can be cloned by somatic cell nuclear transfer 582 Transgene function 583 Gene function is assessable in vivo using transgenic models 583 Gene targeting knocks out gene function in vivo 585 Summary 586 Enrichment reading 586 Quiz questions 586 25 Gene therapy and recombinant ONA technology 587 Recombinant protein production 588 Synthetic human proteins are useful therapeutic agents 588 Chimeric molecules can be genetically engineered 589 Recombinant protein expression systems vary in efficiency 590 Antisense oligonucleotides 592 Ribozymes are RNA gene shears that kill the messenger 592 Antisense therapies neutralize critical nucleic acid sequences 594 Gene therapy 596 Gene therapy complements tissue deficiency of a given protein 596 Proteins can be induced in proliferating cells using retroviruses 597 DNA viruses deliver genes to nondividing cells 598 Reimplanted host cells permit cellular gene therapy 599 Summary 601 Enrichment reading 601 Quiz questions 601 Index 603
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genre_facet	Lehrbuch
id	DE-604.BV014089840
illustrated	Illustrated
indexdate	2024-07-09T18:57:28Z
institution	BVB
isbn	052164481X 052164285X
language	English
oai_aleph_id	oai:aleph.bib-bvb.de:BVB01-009651754
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owner	DE-20 DE-29 DE-19 DE-BY-UBM DE-634 DE-11
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physical	XXXI, 623 S. zahlr. Ill., graph. Darst.
publishDate	2003
publishDateSearch	2003
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publisher	Cambridge Univ. Press
record_format	marc
spelling	Epstein, Richard J. Verfasser aut Human molecular biology an introduction to the molecular basis of health and disease Richard J. Epstein 1. publ. Cambridge [u.a.] Cambridge Univ. Press 2003 XXXI, 623 S. zahlr. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Biologie humaine Biologie moléculaire Moleculaire biologie gtt Pathologie moléculaire Genetic Diseases, Inborn Human biology Metabolism Molecular Biology Molecular biology Pathology, Molecular Molekulare Medizin (DE-588)4543844-4 gnd rswk-swf Molekularpathologie (DE-588)4170396-0 gnd rswk-swf (DE-588)4123623-3 Lehrbuch gnd-content Molekulare Medizin (DE-588)4543844-4 s DE-604 Molekularpathologie (DE-588)4170396-0 s HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009651754&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis
spellingShingle	Epstein, Richard J. Human molecular biology an introduction to the molecular basis of health and disease Biologie humaine Biologie moléculaire Moleculaire biologie gtt Pathologie moléculaire Genetic Diseases, Inborn Human biology Metabolism Molecular Biology Molecular biology Pathology, Molecular Molekulare Medizin (DE-588)4543844-4 gnd Molekularpathologie (DE-588)4170396-0 gnd
subject_GND	(DE-588)4543844-4 (DE-588)4170396-0 (DE-588)4123623-3
title	Human molecular biology an introduction to the molecular basis of health and disease
title_auth	Human molecular biology an introduction to the molecular basis of health and disease
title_exact_search	Human molecular biology an introduction to the molecular basis of health and disease
title_full	Human molecular biology an introduction to the molecular basis of health and disease Richard J. Epstein
title_fullStr	Human molecular biology an introduction to the molecular basis of health and disease Richard J. Epstein
title_full_unstemmed	Human molecular biology an introduction to the molecular basis of health and disease Richard J. Epstein
title_short	Human molecular biology
title_sort	human molecular biology an introduction to the molecular basis of health and disease
title_sub	an introduction to the molecular basis of health and disease
topic	Biologie humaine Biologie moléculaire Moleculaire biologie gtt Pathologie moléculaire Genetic Diseases, Inborn Human biology Metabolism Molecular Biology Molecular biology Pathology, Molecular Molekulare Medizin (DE-588)4543844-4 gnd Molekularpathologie (DE-588)4170396-0 gnd
topic_facet	Biologie humaine Biologie moléculaire Moleculaire biologie Pathologie moléculaire Genetic Diseases, Inborn Human biology Metabolism Molecular Biology Molecular biology Pathology, Molecular Molekulare Medizin Molekularpathologie Lehrbuch
url	http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=009651754&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA
work_keys_str_mv	AT epsteinrichardj humanmolecularbiologyanintroductiontothemolecularbasisofhealthanddisease

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