Index
Page numbers refer to the print edition but are hyperlinked to the appropriate location in the e-book.
11-FINGERS protein 178–9, 286
AAUAAA motif 233–4
Adam and Eve story 125
addiction 265
age, as health risk factor 59–62
Agouti viable yellow mouse 122
AIDS 38, 41, 244, 279
albinism 211
alcohol 265, 266
Alnylam (company) 274–6
alpha satellite repeats 66
Alzheimer’s disease 76, 110–11, 212, 29
amino acids 10
adding to protein chain 146–9
placeholders for 14, 15
Amish communities 27, 243, 258
amyotrophic lateral sclerosis (ALS) 235–6, 276
aneuploidy 74–5
Angelman syndrome 137–40, 142, 329
antibiotics 152–3
antibodies 172–3, 271–2
anti-obesity drugs 215, 218
antisense RNAs 271, 276–81
aplastic anaemia 56–7, 58, 329
apoliprotein B100 280
apoptosis 50
appendix 32
assisted reproductive technologies 141–3
AUG sequence 224, 226
autosomes 80
BACE1 enzyme 111
bacteria 149, 152–3, 237
Barr body 84, 120
basal cell carcinoma 226, 329
bases 13
Beckwith-Wiedemann syndrome 140, 142, 329
beta-amyloid 111
biomarkers 217–18
BK protein 265
blindness 272
blood cancer 118, 217
blood pressure, high 263
blood stem cells 54, 58
body mass index 214
Boleyn, Anne 202
bone marrow 259, 260
brain
genes never expressed 176
long RNAs and 110–12
smallRNAs and 263–7
brain tumours
childhood 276–7
ETMR paediatric 330
BRCA1 gene 108
breast cancer 74, 108, 118, 217, 268, 272
brittle bone disease 219–25, 332
Brown, Louise 141
Burkitt’s lymphoma 48, 158–9, 172–3, 329
bystander events 101
CAC sequences 245
CAG sequences 245
calico cats 94–5
cancer 329–30
aneuploidy and 74–5
long RNAs and 107–10, 118–19
major repressor and 118–19
obesity and 62
paclitaxel and 74
promoters and 158–9
smallRNAs and 265–8
super-enhancers and 167
tailored therapies 27
tumour suppression 275
see also individual diseases
cancer cells, telomerase activity 53
carbon monoxide levels 214
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
definition 97
enhancing 162, 167
expression level 97–8
expression patterns 190
functions 102–3, 106, 112
longevity 60–2
Lou Gehrig’s disease (amyotrophic lateral sclerosis) 235–6, 276
lung cancer 74, 107, 217, 268
macromolecular complex 146
major repressor 117–20
and cancer 118–19
knockout of 132
malignant melanoma see melanoma
mammals, reproduction 125–6, 129–30
marsupials, imprinted genes 130
master regulators 164–6
MeCP2 gene 91
Mediator complex 162–3, 165, 167, 169
melanoma 35, 226, 331
Merck (company) 281
messenger RNA 16, 147–9, 222–4
expression level 97–8
expression patterns 190
untranslated regions at end of 232–6
see also splicing
methionine 247
mice
Agouti viable yellow 122
brain 263–5
with Fragile X syndrome 229
gene knockout experiments 260–1
imprinted genes 135
long non-coding RNAs 98
overweight 215–16
reconstituted eggs experiments 126–8, 135
repeat elements in 40
microRNA (miRNA) 256
Mipomersen (drug) 280
Mirna Therapeutics (company) 275–6
mitochondria 153–5
mutant 155
monotremes 132
morphogens 202–4
and facial development 204–7
and pancreas 207–10
mosquitoes 268
motor neuron disease (amyotrophic lateral sclerosis) 235–6, 276
multiple sclerosis 212
muscle stem cells 261–2
muscle wasting 232
Muscleblind-like protein 1 (MBNL1) 230
mutations
de novo 138
definition 8
effects 10
gain-of-function 230
MYC protein 158
myotonic dystrophy 8–9, 21–4, 230–2, 331
National Institutes of Health 25
neurons 20, 114–15, 228–9, 263
neuropathic pain 111–12, 331
non-templated changes 235
North American eastern equine encephalitis virus 268–9, 331
Novartis 281
nucleolus 150–1
obesity 61–2, 214–17
OCA2 gene 211
octamers 69–73
Ohio Amish dwarfism 243, 331
Opitz-Kaveggia syndrome 163, 331
organ transplants 42
organismal complexity, proportion of junk DNA and 4, 187–8
osteogenesis imperfecta (brittle bone disease) 219–25, 332
ovarian cancer 74, 107, 268
paclitaxel (drug) 74
pancreas, development 209
pancreatic agenesis 207–10, 332
pancreatic cancer 108
papillary thyroid cancer 108
parent-of-origin effect 128, 138, 140
Patau’s Syndrome 77, 79, 80, 332
patient-derived cells 165
penetrance, variable 206
personalised medicine 217–18
pigmentation 211, 214
pigs 42–3
placebo procedures 252–3
placenta 105, 127, 129–30, 135, 141
plaques 111
plasmapheresis 279
pluripotency 105–6, 107
poetry example 238–40
polyadenylation signal 233, 234–5
Polycomb Response Complex (PRC2) 118
positive feedback loops 166
Prader-Willi syndrome 136–40, 150, 152, 332
pregnancy rates 78
programmed cell death 50
promoters 157–9, 190
and cancer 158–9
Prosensa (company) 252, 254
prostate cancer 107, 108, 109, 118–19
proteins
as drugs 271–2
functions 10
importance 1
pseudoautosomal regions 182
PTF1A transcription factor 207
pufferfish 32–3
pulmonary fibrosis 56, 58–9
RaNA Therapeutics (company) 281
red blood cells 54
red–green colour blindness 90
regulatory regions 170, 189, 195, 207, 209–11
regulatory T cells 234
research funding 198–9
retina, viral infection in 278–9
retinitis pigmentosa 242–3, 332
retrogenes 284–6
Rett syndrome 90–1
rheumatoid arthritis 212, 271
ribosomal RNA molecules see rRNA
ribosomes 146–7, 148–9, 224–5, 245
in primitive organisms 151
RNA 15–16
enzymatic activities 156
Roberts Syndrome 169, 332
Roche (company) 281
rodents, repeat elements in 40
Romanov dynasty 90
rRNA 146–9
methylation 151
mutations in genes 149
numbers of genes 149
Sainsbury, David 26
Sanofi 280
Sarepta 254
satellite cells 261
schizophrenia 212, 213
scissors enzyme 258, 260–3, 264–5
senescence 51
sense RNAs 277–8
sex chromosomes 80
Silver-Russell syndrome 140, 142, 332
simple sequence repeats 45–6
Six3 transcription factor 205
skeletal deformations 108, 119, 224, 257–8
skeletal muscle problems 231–2, 261
skin cells 168
small interfering RNA (siRNA) 256
small molecule drugs 271–3
smallRNAs 255–69
and brain 263–7
and cancer 265–8
epigenetic modifications 267
and stem cells 258–63
smell, sense of 263–4
SMN1 gene 248
SMN2 gene 248
smoking 58–9, 61
passive 214
snoRNAs 150–2
Sonic Hedgehog (SHH) protein 202
sperm
chromosome numbers 64, 80
formation 43–4, 64, 73, 75–6, 181–2
mutated cells 138
Spinal Muscular Atrophy 247–8, 332
spindle apparatus 65–6, 67, 70–1, 73–4
spleen 260
spliceosome 241–2, 243, 244, 248
splicing 17, 30, 222, 237–54
alternative 238
and disease 242–8
manipulating for therapeutic gain 248–54
SRY gene 82
statins 279
stem cells 53–4
blood 54, 58
smallRNAs and 258–63
stop signals 148–9, 245, 246, 250
super-enhancers 163, 165–7
and cancer 167
supratentorial neuroectodermal tumours 266
telomerase activity 52–3
telomeres 49–62
and diseases 55–9
length importance 54–5
as molecular clock 60–2
shortening 51–3
testes 82, 110
testosterone 82, 109
tetracycline 152
tetrapods 99
thymus 260
thyroid gland 234
tobacco 58, 61
tortoiseshell cats 94–5
totipotency 105
Trading Places (film) 47
transcription factors 157–9, 205
transfer RNA see tRNA
transthyretin 274
Treacher-Collins Syndrome 150
trisomy 13 77–8
trisomy 18 77–8
trisomy 21 76, 77–8
tRNA 147–9
and insulation 179–80
numbers of genes 150
Tsix gene 87–8
Tsix RNA 87–8, 97
TTAGGG motifs 49, 52, 54
tumour suppressors 275
Turner’s syndrome 332
two-base sequences 241
ultraviolet radiation 35
uniparental disomy 138
untranslated regions (UTRs) 222–3, 226–7, 230, 232–6
variable expressivity 206
variable penetrance 206
Victoria, Queen 90
virgin birth 125
Wellcome Trust 25, 26
white blood cells 60–1, 268–9
Williams-Beuren syndrome 44
worms
genome size 29–32
number of genes 28
X chromosomes 79–96, 180–4
people with wrong numbers of 83, 180–1, 183–4
physical conformation 83–4
X inactivation 82–4, 86–8, 89, 93–6, 120–1, 180–3
X inactivation centre 84, 88
X0 syndrome 332
xenotransplantation 42–3
Xist gene 84–8
Xist RNA 85–8, 94, 97, 120, 182
XXX syndrome 332
XXY syndrome 332
Y chromosome 80–1, 181–3
yeast, genome size 31–2
zebrafish 98
zygote 64, 104–5