Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.
Neuropathol Appl Neurobiol
; 48(3): e12775, 2022 04.
Article
em En
| MEDLINE
| ID: mdl-34820881
ABSTRACT
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
MicroRNAs
/
Epilepsia
/
RNA Longo não Codificante
Limite:
Humans
Idioma:
En
Revista:
Neuropathol Appl Neurobiol
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Reino Unido