An autoregulatory poison exon in Smndc1 is conserved across kingdoms and influences organism growth.
PLoS Genet
; 20(8): e1011363, 2024 Aug.
Article
in En
| MEDLINE
| ID: mdl-39150991
ABSTRACT
Many of the most highly conserved elements in the human genome are "poison exons," alternatively spliced exons that contain premature termination codons and permit post-transcriptional regulation of mRNA abundance through induction of nonsense-mediated mRNA decay (NMD). Poison exons are widely assumed to be highly conserved due to their presumed importance for organismal fitness, but this functional importance has never been tested in the context of a whole organism. Here, we report that a poison exon in Smndc1 is conserved across mammals and plants and plays a molecular autoregulatory function in both kingdoms. We generated mouse and A. thaliana models lacking this poison exon to find its loss leads to deregulation of SMNDC1 protein levels, pervasive alterations in mRNA processing, and organismal size restriction. Together, these models demonstrate the importance of poison exons for both molecular and organismal phenotypes that likely explain their extraordinary conservation.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Exons
/
Arabidopsis
/
Alternative Splicing
/
Nonsense Mediated mRNA Decay
Limits:
Animals
/
Humans
Language:
En
Journal:
PLoS Genet
Journal subject:
GENETICA
Year:
2024
Document type:
Article
Affiliation country:
United States
Country of publication:
United States