Peer-reviewedCC BYMicroPublication biology
The nonsense mutation of the smu-1(mn415) allele is in exon 6 at Q257, not in exon 5 at Q255.
- 1School of Biological Sciences, University of East Anglia, Norwich, ENG, United Kingdom.
Abstract
smu-1 encodes the Caenorhabditis elegans orthologue of the spliceosomal protein SMU1. The smu-1 ( mn415 ) allele was originally identified as a suppressor of synthetic lethality between mec-8 and unc-52 and was mapped to a stop codon at amino acid position 255 in exon 5. Our Sanger sequencing analysis of the smu-1 ( mn415 ) allele shows that the stop codon is at amino acid position 257 in exon 6.
Related
- Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy
- Targeting FTSJ1 to Restore TP53 Function in Nonsense Mutation-Driven Cancer: Computational and Experimental Evaluation of 1,2,4-Triazole Derivatives
- Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation
- Case Report: McLeod syndrome caused by a nonsense variant c.484C > T (p.Gln162Ter) in the XK gene in a Chinese Han family
- UPF1 at Work: Structural and Mechanistic Insights Into a Master Regulator of Nonsense-Mediated mRNA Decay
BibTeX
@article{chauhan2026nonsense,
title = {{The nonsense mutation of the smu-1(mn415) allele is in exon 6 at Q257, not in exon 5 at Q255.}},
author = {Nirmala Devi Rajendra Chauhan and Timothy Pearson and Alper Akay},
journal = {MicroPublication biology},
year = {2026},
month = oct,
doi = {10.17912/micropub.biology.002454},
url = {https://europepmc.org/article/MED/42997208},
note = {CC BY},
}
RIS
TY - JOUR
TI - The nonsense mutation of the smu-1(mn415) allele is in exon 6 at Q257, not in exon 5 at Q255.
AU - Nirmala Devi Rajendra Chauhan
AU - Timothy Pearson
AU - Alper Akay
PY - 2026
DA - 2026/10/22
JO - MicroPublication biology
DO - 10.17912/micropub.biology.002454
UR - https://europepmc.org/article/MED/42997208
AB - smu-1 encodes the Caenorhabditis elegans orthologue of the spliceosomal protein SMU1. The smu-1 ( mn415 ) allele was originally identified as a suppressor of synthetic lethality between mec-8 and unc-52 and was mapped to a stop codon at amino acid position 255 in exon 5. Our Sanger sequencing analysis of the smu-1 ( mn415 ) allele shows that the stop codon is at amino acid position 257 in exon 6.
SN - 2578-9430
ER -