Junk DNA: A Journey Through the Dark Matter of the Genome (53 page)

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