Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.
epilepsy
gene regulation
non-coding DNA
non-coding mutations
regulatory sequences
Journal
Neuropathology and applied neurobiology
ISSN: 1365-2990
Titre abrégé: Neuropathol Appl Neurobiol
Pays: England
ID NLM: 7609829
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
revised:
04
10
2021
received:
21
06
2021
accepted:
16
11
2021
pubmed:
26
11
2021
medline:
7
4
2022
entrez:
25
11
2021
Statut:
ppublish
Résumé
Non-coding DNA (ncDNA) refers to the portion of the genome that does not code for proteins and accounts for the greatest physical proportion of the human genome. ncDNA includes sequences that are transcribed into RNA molecules, such as ribosomal RNAs (rRNAs), microRNAs (miRNAs), long non-coding RNAs (lncRNAs) and un-transcribed sequences that have regulatory functions, including gene promoters and enhancers. Variation in non-coding regions of the genome have an established role in human disease, with growing evidence from many areas, including several cancers, Parkinson's disease and autism. Here, we review the features and functions of the regulatory elements that are present in the non-coding genome and the role that these regions have in human disease. We then review the existing research in epilepsy and emphasise the potential value of further exploring non-coding regulatory elements in epilepsy. In addition, we outline the most widely used techniques for recognising regulatory elements throughout the genome, current methodologies for investigating variation and the main challenges associated with research in the field of non-coding DNA.
Identifiants
pubmed: 34820881
doi: 10.1111/nan.12775
pmc: PMC8917000
mid: NIHMS1758649
doi:
Substances chimiques
MicroRNAs
0
RNA, Long Noncoding
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e12775Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : Wellcome Trust
ID : 108749/Z/15/Z
Pays : United Kingdom
Informations de copyright
© 2021 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.
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