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