Poison exons in neurodevelopment and disease.
Journal
Current opinion in genetics & development
ISSN: 1879-0380
Titre abrégé: Curr Opin Genet Dev
Pays: England
ID NLM: 9111375
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
05
04
2020
revised:
07
05
2020
accepted:
21
05
2020
pubmed:
3
7
2020
medline:
2
7
2021
entrez:
3
7
2020
Statut:
ppublish
Résumé
Poison exons are naturally occurring, highly conserved alternative exons that contain a premature termination codon. Inclusion of a poison exon in a transcript targets the transcript for nonsense mediated decay, decreasing the amount of protein produced. Poison exons are proposed to play an important role in tissue-specific expression, development and autoregulation of gene expression. Recently, several studies that performed systematic investigations of alternative splicing in the brain have highlighted the abundance of transcripts containing poison exons, some of which are spliced in a cell type-specific manner. Pathogenic variants in or near poison exons that result in aberrant splicing have been identified in several genes including FLNA, SCN1A and SNRPB. Improved understanding of the role of poison exons in development and disease may present opportunities to solve previously undiagnosed disease and to develop therapeutic approaches in the future.
Identifiants
pubmed: 32615329
pii: S0959-437X(20)30081-2
doi: 10.1016/j.gde.2020.05.030
pmc: PMC8042789
mid: NIHMS1608228
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
98-102Subventions
Organisme : NINDS NIH HHS
ID : DP2 NS111506
Pays : United States
Organisme : NINDS NIH HHS
ID : R00 NS089858
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS069605
Pays : United States
Informations de copyright
Copyright © 2020 Elsevier Ltd. All rights reserved.
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