Principles of evolutionary medicine

313 Pages·2016·5.032 MB·English

by  Gluckman, Peter D

Principles of Evolutionary Medicine
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Principles of
Evolutionary Medicine
Peter Gluckman
Centre for Human Evolution, Adaptation and Disease, Liggins Institute,
Th e University of Auckland, New Zealand
Alan Beedle
Centre for Human Evolution, Adaptation and Disease, Liggins Institute,
Th e University of Auckland, New Zealand
Mark Hanson
Institute of Developmental Sciences, University of Southampton, UK
1
3
Great Clarendon Street, Oxford OX2 6DP
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© Peter Gluckman, Alan Beedle, and Mark Hanson, 2009
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First published 2009
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Typeset by Newgen Imaging Systems (P) Ltd., Chennai, India
Printed in Great Britain
on acid-free paper by
CPI Antony Rowe, Chippenham, Wiltshire
ISBN 978–0–19–923638–1(Hbk.)
978–0–19–923639–8(Pbk.)
10 9 8 7 6 5 4 3 2 1
Contents
Preface xiii
PART 1 FUNDAMENTALS OF EVOLUTIONARY BIOLOGY
1 Introduction 3
1.1 What is disease? 4
1.2 What evolution is: fundamental principles 8
1.2.1 Selection 10
1.2.2 Variation and inheritance 10
1.2.3 Development and the life course 11
1.3 Time 13
1.4 Constraints 15
1.5 We are not alone 16
1.6 How evolutionary arguments fi t alongside other
biological perspectives 17
1.7 Evolution and medicine 18
Key points 18
Further reading 18
2 Evolutionary theory 21
2.1 Introduction 21
2.2 What does evolutionary theory explain? 26
2.3 How does evolution work? 29
2.3.1 Variation 30
2.3.1.1 Mutation 31
2.3.1.2 Recombination 31
2.3.1.3 Constraints on variation 32
2.3.2 Selection 34
2.3.2.1 Artifi cial selection 34
2.3.2.2 Natural selection 34
2.3.2.3 Sexual selection 35
v
vi CONTENTS
2.3.2.4 Levels of selection 36
2.3.2.5 Genes as units of selection 37
2.3.2.6 Extended phenotype 38
2.3.3 Inheritance 38
2.4 Areas of debate and the limitations of adaptationist argument 41
2.4.1 Does evolution have a direction? 41
2.4.2 Selection is not random 42
2.4.3 Is selection the only mechanism of evolution? 43
2.4.4 Is every feature of an organism an adaptation? 44
2.4.5 How do species evolve? 45
2.4.6 How fast is evolution? 47
2.4.7 How do we explain traits that appear to reduce fi tness? 48
2.5 Conclusion 48
Key points 49
Further reading 49
3 The molecular basis of variation and inheritance 51
3.1 Introduction 51
3.2 Molecular basis of human genetic variation 52
3.2.1 What is a gene? 52
3.2.2 Mutation as a cause of sequence variation in the genome 53
3.2.3 SNPs 53
3.2.4 Indels 56
3.2.5 VNTRs 56
3.2.6 Transposable elements 56
3.2.7 Structural polymorphism 57
3.3 How different are any two individual genomes? 57
3.3.1 Recombination as a source of variation 58
3.3.2 Haplotypes and linkage 59
3.4 Factors affecting variation 60
3.4.1 How drift affects diversity 60
3.4.2 Molecular effects of selection 63
3.4.3 Signatures of selection 64
3.5 From genotype to phenotype 64
3.6 Why hasn’t selection eliminated monogenic disease
from the population? 68
3.7 No single genes for common diseases 70
3.8 Non-genetic inheritance 71
3.9 Conclusion 74
Key points 74
Further reading 75
4 Evolution and development 77
4.1 Introduction 77
4.2 Development: pre-ordained or plastic? 79
CONTENTS vii
4.3 Is development important? 80
4.4 Developmental plasticity 83
4.5 Responses to environmental cues during development 84
4.5.1 Developmental disruption 84
4.5.2 Adaptive responses in development 85
4.5.2.1 Immediately adaptive responses: coping
with the consequences 85
4.5.2.2 Predictive adaptive responses 86
4.6 Epigenetic mechanisms 88
4.7 Intergenerational effects 90
4.8 Learning and instinct 92
4.9 Evolution of novelty 92
4.10 Conclusion 94
Key points 96
Further reading 96
5 Evolution of life histories 97
5.1 Introduction 97
5.2 General overview of life history theory 98
5.2.1 Key trade-offs in life histories 98
5.2.1.1 Number versus quality of offspring 100
5.2.1.2 Current versus future reproduction 100
5.2.1.3 Age versus size at maturity 101
5.2.1.4 Fecundity versus lifespan 101
5.2.2 Extrinsic and intrinsic mortality 102
5.2.3 Extrinsic mortality and age at menarche 104
5.2.4 Lifespan and ageing 105
5.2.5 Evolutionary theories of senescence 106
5.3 Body size and shape 108
5.3.1 Allometry 109
5.3.2 Variation in growth and development 109
5.4 Growth in humans 112
5.4.1 Phases of growth 112
5.4.2 Puberty 114
5.5 Evolutionary analysis of the distinct features of human growth 116
5.5.1 The childhood phase 117
5.5.2 Pubertal growth spurt 118
5.5.3 Reproductive decline and the menopause 119
5.6 Conclusion: interpreting the human life history 120
Key points 121
Further reading 121
6 Human evolution and the origins of human diversity 123
6.1 Introduction 123
6.2 The hominoid clade 123
viii CONTENTS
6.3 Hominin evolution 124
6.3.1 Timeline and species 124
6.3.2 Bipedalism 127
6.3.3 Body size 128
6.3.4 Face, jaw, and dentition 128
6.3.5 Gastrointestinal tract 129
6.3.6 The hairless ape 129
6.3.7 The hominin brain 129
6.3.8 Tool making 134
6.3.9 Language 135
6.3.10 Culture and society 137
6.3.11 Cultural evolution 139
6.4 Human adaptation to local selection pressures 141
6.4.1 Hominin origins and migrations: out of Africa again 141
6.4.2 Variation caused by migration 143
6.4.3 Variation caused by change in lifeways 144
6.5 Are humans still evolving? 144
6.6 Social implications of human diversity 146
6.7 Conclusion 147
Key points 147
Further reading 147
PART 2 UNDERSTANDING HUMAN DISEASE FROM AN EVOLUTIONARY
PERSPECTIVE
7 Reproduction 151
7.1 Introduction 151
7.2 Sexual reproduction 152
7.3 Why did sex evolve? 152
7.4 Sex determination 155
7.5 Reproductive strategies 155
7.6 Mate choice 156
7.7 Sexual differences in the human 160
7.8 Gender differences in morbidity and mortality 161
7.9 The human reproductive cycle 162
7.9.1 Puberty 162
7.9.2 The timing of puberty 163
7.9.3 Why menstruate? 166
7.9.4 Pregnancy 166
7.9.5 The placenta 167
7.9.6 Maternal–fetal interactions 168
7.9.7 Regulation of fetal growth 170
7.9.8 Confl ict in development 172
7.9.9 Lactation and postnatal care 172
7.9.10 The menopause 173
CONTENTS ix
7.10 Conclusion: reproduction and evolution 175
Key points 176
Further reading 177
8 Nutritional and metabolic adaptation 179
8.1 Introduction 179
8.2 Strategies for energy storage 179
8.3 Human diet: an evolutionary history 182
8.3.1 Pre-agricultural hominins 182
8.3.1.1 Anatomical evidence for diet quality
in early humans 183
8.3.1.2 Modern foraging populations: what do
they teach us? 184
8.3.2 The Neolithic Revolution 186
8.3.3 The modern nutrition transition 187
8.3.4 Well fed but poorly nourished 188
8.4 How can change in the environment increase disease risk? 192
8.4.1 A ‘thrifty’ genotype? 192
8.4.1.1 Search for thrifty genes 192
8.4.1.2 Was there feast and famine? 194
8.4.1.3 Has post-agricultural famine
selected thrifty genes? 194
8.5 Does evolutionary novelty explain current patterns of
metabolic disease and obesity? 197
8.6 A developmental perspective: the missing link? 198
8.6.1 Maladaptive consequences of an adaptive process 201
8.6.2 Developmental plasticity in the setting of evolutionary novelty 203
8.6.3 Other possible developmental pathways 205
8.7 Conclusion 206
Key points 208
Further reading 208
9 Defence 211
9.1 Introduction 211
9.2 Predation and conspecifi c violence 211
9.2.1 Stress 212
9.2.2 Developmental changes in stress responses: adaptive prediction 213
9.3 Dealing with infection 216
9.3.1 Commensals 216
9.3.2 Pathogen emergence 217
9.3.3 Virulence 218
9.3.4 Antibiotic resistance 221
9.3.5 Microbiota and the human genome 221
9.3.6 Innate immunity 222
9.3.7 Adaptive immunity 224