Free Junk DNA: A Journey Through the Dark Matter of the Genome by Nessa Carey

defects in a protein required for the junk-mediated higher-order structuring of DNA.
Down’s syndrome Caused by uneven distribution of chromosome 21 to developing gametes, a process dependent on a junk region called the centromere.
Duchenne muscular dystrophy Some cases are caused by mutations which result in abnormal splicing of the dystrophin RNA molecule.
Dyskeratosis congenita 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.
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,