CONTENTS UNIT 3 Signatures of life AREA OF STUDY 1 Molecules of life 1 2 3 Preface xii About the CD-ROM xiii Acknowledgements xiv The chemical nature of cells 2 Examining molecules 3 Biotech: The Australian Synchrotron 3 Water: a unique compound 4 Organic molecules 8 Carbohydrates energy rich 9 Proteins 14 Forensics detecting haemoglobin 18 Personal story: Mary thalassaemia minor 19 Lipids 21 Nucleic acids 23 Biology in the workplace: Drew Berry animator specialising in biomedical science 27 Biochallenge 28 Key words 29 Questions 29 Membranes and cell organelles 32 Life or death for a cell? 33 Apoptosis 34 Biology in the workplace: Sue Macaulay Chief Radiographer, St Vincent s BreastScreen 36 Looking at eukaryotic cells 37 Plants have cell walls 42 Putting the organelles together 51 The cell skeleton 52 Connections between cells: animal cells 52 Connections between cells: plant cells 54 Biochallenge 56 Key words 57 Questions 57 Biochemical processes in cells 60 Energy in a capsule? 61 Chemical energy in organic compounds 62 Enzyme action 64 Exploring photosynthesis 69 Which wavelengths of light are most useful? 70 Stages of photosynthesis 72 Comparing C 3 and C 4 plants 73 Plants chemical factories 75 Putting photosynthesis together 75 Cellular respiration: energy transfer from glucose to ATP 78 Two types of cellular respiration 79 ATP: Energy currency of cells 80 Aerobic respiration: making ATP in the presence of oxygen 81 CONTENTS 5
Energy needs of various tissues 85 Biotech: The hyperbaric oxygen chamber 86 PET images: assessing damage to heart muscle 87 Making ATP without oxygen: anaerobic respiration 89 Personal story: Kelly Stubbins elite swimmer and student 90 What happens during starvation? 93 Elite athletes and their energy sources 94 Biochallenge 96 Key words 97 Questions 97 UNIT 3 Signatures of life AREA OF STUDY 2 Detecting and responding 4 5 Molecular biology in medicine 100 Molecular biology the beginning 101 Inherited diseases 102 Personal story: Joel Sheahan living with PKU 105 Gene therapy 106 Medical diagnosis 109 Personal story: Angela living with the possibility of Huntington disease 113 Rational drug design 114 Sir Ronald Ross Nobel Laureate for his work on malaria 121 Manufacturing biological molecules 123 Biologist at work: Alister Ward molecular research for leukaemia 127 Biochallenge 128 Key words 129 Questions 129 Coordination and regulation: endocrine systems 132 Death at sea 133 External and internal environments 134 Homeostasis: keeping within limits 136 Homeostasis: hormones in action 139 Personal story: Sophie s story my life with diabetes 142 Biology in the workplace: Trisha Dunning diabetes nurse educator 143 Cell communication 145 Personal story: Maggy Saldais adventures with a hormone imbalance 149 Pheromones 150 Hormones as plant regulators 152 Commercial uses of plant hormones 158 Biochallenge 162 Key words 163 Questions 163 vi CONTENTS
6 7 Coordination and regulation: nervous systems 166 A bundle of nerves 167 Biology in the workplace: Claire Jackson optometrist 169 The nervous system 170 Nerve cells 172 What is a nerve impulse? 174 Nerve cells communicate with other cells 175 Headache is it a pain in the head? 182 The central nervous system 183 Looking into the brain with PET and CAT scans 186 Nerve action and hormone action: a comparison 187 Quick-change artists 188 Homeostasis: nerves and hormones acting together 189 Personal story: Patricia Hulskamp kidney transplant recipient 194 Biochallenge 196 Key words 197 Questions 197 Infection and disease 199 A plague of plagues 200 What is a disease? 203 Pathogens non-cellular agents 204 Another non-cellular pathogen viruses 207 Influenza a common viral disease 210 An Australian Nobel Laureate Sir Macfarlane Burnet (1899 1985) 212 Pathogens cellular agents: bacteria 213 Mary Mallon a famous carrier of typhoid 219 Lethal sandwiches 220 Treatment of bacterial diseases 221 Penicillin the miracle drug 222 New techniques for detecting bacteria 223 Bacteria and plant infections 224 Biology in the workplace: Cathy Harcourt medical laboratory scientist 225 Eukaryotic pathogens 226 Multi-celled organisms 227 Sexually transmitted diseases 233 Control against pathogens 235 Biologist at work: Dr Anneke Veenstra-Quah animal biologist 238 Biochallenge 240 Key words 241 Questions 241 CONTENTS vii
UNIT 4 Continuity and change AREA OF STUDY 1 Heredity 8 9 10 Immunity: defence against disease 244 A vaccine for cervical cancer 245 Immunity 246 Non-specific immunity 246 Specific immunity 250 Colony stimulating factors csfs 252 The Walter and Eliza Hall Institute of Medical Research 260 Acquiring specific immunity 263 Eradicating a disease by vaccination 265 Adverse events associated with immunity 269 Trent allergic to peanuts and dairy products 270 Personal story: Rachel s story a case of systemic lupus erythematosus (sle) 276 Biochallenge 280 Key words 281 Questions 281 Genes, chromosomes and patterns of inheritance 286 The genetic lottery 287 Biologist at work: Lisette Curnow genetic counsellor 290 Chromosomes: gene carriers 291 Personal story: Jane s story, as told by her mother 298 Meiosis: diploid to haploid 302 Genes: inherited instructions 306 Alleles: particular forms of a gene 309 Identifying genotypes 312 Relationship between expression of alleles 314 Tortoiseshell cats and the X chromosome 315 Environmental interactions with genotypes 318 Rules of the genetic game 321 What about linked genes? 324 Estimating distance between linked genes 326 Family pedigrees: drawing genetic portraits 328 Biology in the workplace: Associate Professor Jane Halliday epidemiologist 332 Biochallenge 334 Key words 335 Questions 335 Nature, structure and organisation of the genetic material 339 In a monastery garden 340 Where are genes located? 346 What are genes made of? 348 Nature of genes 351 Analysing DNA 351 DNA forms a double helix 353 Relating DNA to chromosomes and genes 356 viii CONTENTS
Gene structure 358 Gene sequencing 359 DNA sequencers 360 Nature of the genetic code 362 What is a genome? 365 Biologist at work: Dr Sue Forrest molecular geneticist 369 Genetic material: stable or changing? 370 A closer look at a gene 373 A royal mutation 374 Coding and flanking regions 375 Finding the double helix 377 Biochallenge 379 Key words 380 Questions 380 11 12 Gene function: genes in action 384 Sea in the blood 385 Personal story: Soltirios living with thalassaemia 387 Genes in action 388 Transcription: copying the original 389 Translation: decoding genetic instructions 391 Comparing prokaryotes and eukaryotes 395 Gene action in thalassaemia 397 Beta plus another form of thalassaemia 399 All genes produce RNA... most then produce protein 400 Genes have various functions 401 Self-replication: copying itself 403 A closer look at DNA replication 405 Time and place for everything 406 Gene action in Mendel s peas 407 How do microarrays work? 409 Switching genes off 409 How does RNA interference work? 410 Biochallenge 413 Key words 414 Questions 414 Manipulating DNA: tools and techniques 418 Murders at Ekaterinberg 419 Tools of the genetic engineer 422 Eco RI what s in a name? 422 Getting hold of specific DNA 427 Making multiple copies of a gene 428 Amplifying traces of DNA 429 Gene transfer between species 431 DNA technology in medicine 433 Protocol for predictive testing for HD 436 DNA technology in forensics 437 DNA profiling in Australia 443 What s my DNA profile? 446 CONTENTS ix
DNA profiles are not just for people! 448 Biologist at work: Peter Timms DNA wildlife detective 450 Identification in mass disasters 455 DNA and paternity testing 455 Biologist at work: Linzi Wilson-Wilde OAM forensic scientist 456 Biochallenge 458 Key words 459 Questions 459 UNIT 4 Continuity and change AREA OF STUDY 2 Change over time 13 14 Population genetics 464 How now, red fowl! 465 Causes of variation 471 Inherited variations 474 Polygenes in action 476 Mutation: source of new genetic variation 477 Biotech: Visualising genetic variation in a population 478 Genes in populations 479 Math in biology: Hardy Weinberg in action 481 Change agents in populations 483 Migration as an agent of change 490 Chance as an agent of change 491 Evolution within a species 492 Biologists at work: David Westcott and Peter Latch wild populations 493 Studying populations using mtdna 494 Biochallenge 499 Key words 500 Questions 500 Evolution: changes over time 505 Evolution: history of ideas 506 The Darwin Wallace view 508 The Oxford debate of 1860 510 The travels of Darwin and Wallace 516 Time scales in evolution 517 Organising the past: the geologic time scale 519 How old is it? 520 Evidence of evolution 525 The molecular clock concept 544 Patterns of evolution 546 Speciation 553 Evolution: gradual or intermittent? 553 Extinction 554 Evolutionary relationships 555 Biochallenge 559 Key words 560 Questions 560 x CONTENTS
15 16 Hominin evolution 565 Fossil 1: The child from Taung 566 Fossil 2: Lucy from Afar 569 Classification of the human species 572 Classifications can change 577 Evolution of the primates 579 Hominin evolution: where did it begin? 581 Ancestral players in human evolution 585 The genus Homo: human at last! 591 Geologist at work: Professor Ian McDougall 594 Views of human evolution 602 Out of Africa or not? 604 Changing lifestyles of H. sapiens 605 Changes in human population 607 Human biological evolution 607 Human cultural evolution 611 Technological evolution 613 Biology, culture and technology interact 614 Developments in tool making 614 Meet a fossil hunter: Sue Hand Palaeontologist 616 Biochallenge 617 Key words 618 Questions 618 Human intervention in evolution 620 Lambs in spring 621 Selective breeding in action 622 Reproductive technologies 624 No sex at all! Cloning 629 Transferring genes between species 636 Is it a GMO or a TGO or both? 637 Gene therapy 639 Cystic fibrosis and gene therapy 640 Stem cells: a new approach 640 Genetic screening 644 Technology in human reproduction 645 Biotech: Assisting reproduction in humans 648 Biotech: Reducing the chance of implanting a defective embryo 649 Personal story: Maggie Kirkman parenthood through biology, technology and generosity 650 Biochallenge 652 Key words 653 Questions 653 Appendix 656 Glossary 657 Index 674 CONTENTS xi