cardiac hypertrophy 263
cardiac muscle 262–3
cardiovascular disease 60, 77, 246, 265, 279
cartilage-hair hypoplasia 257–8, 330
cats
with extra toes 203–4
tortoiseshell/calico patterning 94–5
CCG repeats 10, 19, 123, 227
Celera Genomics (company) 25, 29
cells 14
division 63–6
CENP-A protein 66–73
centromeres 64–73, 80
CGG repeats 226
Charcot-Marie-Tooth disease 44
chloride transport 231
cholesterol 279–80
chromosome 4 283–4, 286
chromosome 8 158
chromosome 10 208
chromosome 11 141
chromosome 13 77–8
chromosome 14 142, 158
chromosome 15 138–40
chromosome 16 215
chromosome 18 77–8
chromosome 21 76, 77–8
chromosomes
numbers 80
repair 47–9
chronic psychological stress 61
cigarette smoke, exposure to 213–14
cigarette smoking 58–9, 61
cirrhosis of the liver 213–14
cleft lip 204
Clinton, Bill 25
cloning 95–6
cocaine 265
collagens, defects in 220
colorectal cancer 108
congenital diarrhoea disorder 243–4, 330
consanguinity 207–8
Cornelia de Lange syndrome 169, 330
CpG motifs 114, 123, 133–4
cross-talk 117–23, 131–2, 191
crossing-over 43–4
CTCF protein (11-FINGERS) 178–9, 286
CTG repeats 9, 21, 23–4, 230
CUG repeats 230
cystic fibrosis 26–7
cytomegalovirus (CMV) 278
cytoplasm 15, 146
daughter cells 4
de novo mutation 138
detoxification 275–6
Dexter, Michael 26
diabetes
in babies 207
genetics contribution in 212
type 1 234
type 2, obesity and 61–2, 215
Diamond-Blackfan Anaemia 150
diarrhoea 243–4
Dicerna (company) 281
diet, and longevity 62
DNA
compaction/looping 168–70
knitting with 9–11
DNA double helix 68
DNA fingerprinting 45–6
DNA methylation 114–16
DNA methyltransferases 134
dominant disorders 8
Down’s Syndrome 76–7, 79, 80, 330
Duchenne muscular dystrophy 26–7, 91–4, 248–54, 276, 278, 330
DUX4 (FSHD retrogene) 284–6
dwarfism 243, 258, 331
dyskeratosis congenita 55–6, 330
dystrophin 92–3, 248–54, 278
Edward’s syndrome 77, 79, 80, 330
eggs
chromosome numbers 64, 80
formation 43–4, 64, 73, 75, 181–2
mutated cells 138
electron transport chain 154
embryonic stem (ES) cells 105, 163–6
ENCODE project 185–99
critiques 191–2, 196–9
evolutionary conclusions 195–9
measures of function 191–4
multiple parameters 188–91
endogenous retroviruses (ERVs) 41–3
enhancers 159–60
epigenetic modifications and 160–7
epigenetic modifications 114
and enhancers 160–7
self-sustaining 176
smallRNAs and 267
epigenetic systems 115
cross-talk with long non-coding RNAs 117–23, 131–2
and expansions 123
erythromycin 152
ETMR paediatric brain tumour 330
evolution, ENCODE project and 195–9
exons 238, 249–50
expressivity, variable 206
extra digits 202–4, 330
extracellular matrix 50–1
EZH2 enzyme 117
facial development 204–7
facioscapulohumeral muscular dystrophy (FSHD) 11–12, 283–6, 330
factories 171–3
familial hypercholesterolaemia 279–80
Feingold syndrome 257, 330
fibrillarin 152
fibroblasts 50–1
fingers, extra 202–4, 330
forebrain 264
FOXP3 transcription factor 234
Fragile X protein 20, 227–9
Fragile X syndrome 10, 19–20, 89, 123, 227, 229–30, 330
frame shift 250
Friedreich’s ataxia 11, 18–19, 20, 331
fruit flies, HOX cluster 41
FSHD 11–12, 283–6, 330
FTO gene 215
FUS gene 236
GAA repeats 11, 18–19
gain-of-function mutations 230
gametes
creation 64, 65, 75–6
see also eggs; sperm
GATA8 transcription factor 207
Gcn5 gene 50
gender, determination 81–2
gene expression
amplification steps 14–16
levels 159–60
stochastic component 88–9
genes, protein-coding, identification 98
genome percentage having function 186–7
potential versus actual functional regions 191–4
see also human genome genome-wide association studies (GWAS) 213
Genzyme (company) 280
germ cells 64
telomerase activity 53
germline 133, 285
GGC sequences 246–7
GGT sequences 246–7
GlaxoSmithKline (company) 252–4
glioblastoma 107
glutamine 245
glycine 246, 247
GU sequences 244
haemoglobin, production 115, 172, 176
haemophilia B 90
Hawking, Stephen 235
heart attacks 262
heart disease, obesity and 61
heart protein 231–2
height 184
Hemingway, Ernest 203–4
hepatitis C virus 269, 331
HHV-8 virus 244–5, 331
histidine 245
histone proteins 69–70, 73
modifications 113–20
HIV 41, 244, 279
holoprosencephaly 204–7, 331
horses 268
HOX genes 41, 106, 175
human cartilage-hair hypoplasia 257–8, 330
human genome
number of genes 28–9
percentage having function 186–7
potential versus actual functional regions 191–4
size 29–32
Human GenomeProject 12, 26
human genome sequence cost of sequencing 27
initial draft 25
human immunodeficiency virus (HIV) 41, 244, 279
human telomere syndromes 55
Huntington’s disease 212, 213
Hutchinson-Gilford Progeria 245–6, 331
hydatidiform mole 126–8
idiopathic pulmonary fibrosis 56, 331
IFITM5 gene 223
Ig genes 175
immune system 115, 172–3, 257–8, 269, 285
immunologically privileged sites 285
imprinting 128–30
disorders 136–41, 142–3
resetting the imprint 133–6
imprinting control element (ICE) 130–5, 139–40
induced pluripotent stem (iPS) cells 164
infection, risk in elderly 54
infertility treatment 141–3
inflammatory response 160
insulation theory 34–6
insulators 177–9
insulin 207, 231–2, 234, 271
interspersed repetitive elements 38–41
intestines 260–1
introns 17, 214, 238, 249
IPEX syndrome 234–5, 331
iron overload 19
IRX3 gene 216
Isis (company) 280
Japan, diet and longevity 62
Jolie, Angelina 108
Kaposi’s sarcoma 244–5
karyotypes 81
keratin 176
Klinefelter’s syndrome 332
Kynamro (drug) 280
Leopold, Prince 90
limb development 41, 106, 204
linc RNAs 103
lipoproteins 280
liver, and detoxification 275–6
liver cancer 108, 275–6
liver cirrhosis 213–14
long non-coding RNAs 97–112
3D structures 99–100
and brain 110–12
and cancer 107–10, 118–19
cross-talk with epigenetic systems 117–23, 131–2