Edward’s syndrome Caused by uneven distribution of chromosome 18 to developing gametes, a process dependent on a junk region called the centromere.
ETMR paediatric brain tumour Caused by rearrangement and amplification of a smallRNA cluster.
Extra digits Caused by single base changes in an enhancer for a morphogen.
Facioscapulohumeral muscular dystrophy Caused by the interactions of a combination of junk DNA elements, leading to abnormal expression of a retroviral sequence.
Feingold syndrome Some cases are caused by the loss of a cluster of smallRNAs.
Fragile X syndrome of mental retardation Caused by the expansion of a CCG repeat in a non-protein-coding region at the beginning of a gene. The repeat prevents expression of the gene by making it difficult for the cell to copy the DNA into RNA.
Friedreich’s ataxia Caused by the expansion of a GAA repeat in a non-protein-coding region within a gene. The repeat prevents expression of the gene by making it difficult for the cell to copy the DNA into RNA.
Hepatitis C virus A smallRNA produced by human liver cells binds to the viral RNA, stabilising it and promoting viral productivity.
HHV-8 susceptibility Can be caused by mutation in a splicing signal in a gene.
Holoprosencephaly Some cases have been shown to be caused by mutations in an enhancer region for a morphogen.
Hutchinson-Gilford progeria Caused by a mutation which creates an extra splicing signal in a gene.
Idiopathic pulmonary fibrosis Can be caused by mutations in a number of different genes, each of which is involved in maintaining the lengths of telomeres, the junk regions at the ends of chromosomes.
IPEX autoimmune disorder Caused by a mutation in the non-protein-coding region at the end of a gene, which prevents correct processing of the mRNA.
Malignant melanoma A small number of cases are caused by mutations in the non-protein-coding region at the beginning of a gene, which result in the insertion of extra amino acids into the protein.
Myotonic dystrophy Caused by the expansion of a CTG repeat in a non-protein-coding region at the end of a gene. The repeat is copied into RNA, and mops up RNA-binding proteins, resulting in mis-regulation of a large number of other mRNA molecules.
Neuropathic pain May involve over-expression of a long non-coding RNA that regulates expression of a key ion channel.
North American eastern equine encephalitis virus A smallRNA produced by human immune cells binds to the viral genome and prevents the immune system from recognising that the body is under attack.
Ohio Amish dwarfism Caused by a mutation in a non-coding RNA required for the proper functioning of the splicing machinery.
Opitz-Kaveggia syndrome Caused by defects in a protein that is critical for interaction with long non-coding RNAs in the Mediator complex.
Osteogenesis imperfecta (brittle bone disease) A small number of cases are caused by mutations in the non-protein-coding region at the beginning of a gene, which result in the insertion of extra amino acids into the protein.
Pancreatic agenesis Some cases have been shown to be caused by mutations in enhancer sequences.
Patau’s syndrome Caused by uneven distribution of chromosome 13 to developing gametes, a process dependent on a junk region called the centromere.
Prader-Willi syndrome A condition caused by abnormal imprinting. Junk DNA is vital in control of imprinting, including the involvement of imprinting control regions, promoters, long non-coding RNAs and cross-talk with the epigenetic systems.
Retinitis pigmentosa Some cases are caused by a defect in a protein which is required to ensure normal splicing and removal of junk DNA from mRNA molecules.
Roberts syndrome Caused by defects in a protein required for the junk-mediated higher-order structuring of DNA.
Silver-Russell syndrome A condition caused by abnormal imprinting. Junk DNA is vital in control of imprinting, including the involvement of imprinting control regions, promoters, long non-coding RNAs and cross-talk with the epigenetic systems.
Spinal muscular atrophy The SMN2 gene is unable to compensate for mutations in the closely related SMN1 gene, because of a variant base pair which prevents normal splicing of SMN2 mRNA into functional protein.
X0 syndrome (Turner’s syndrome) Women with only one X chromosome, caused by uneven distribution of X chromosomes to developing gametes, a process dependent on a junk region called the centromere.
XXX syndrome Women with three X chromosomes, caused by uneven distribution of X chromosomes to developing gametes, a process dependent on a junk region called the centromere.
XXY syndrome (Klinefelter’s syndrome) Men with two X chromosomes, caused by uneven distribution of X chromosomes to developing gametes, a process dependent on a junk region called the centromere.
Index
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, 329
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