# Variant identification and genotyping strategy for the smg-1(r861) allele in Caenorhabditis elegans

**Authors:** Michael Zoberman, John A. Calarco

PMC · DOI: 10.17912/micropub.biology.002026 · microPublication Biology · 2026-02-05

## TL;DR

This paper identifies the mutation in the smg-1(r861) allele in C. elegans and provides a method to genotype it efficiently.

## Contribution

The paper introduces a novel restriction digestion-based genotyping strategy for the smg-1(r861) allele.

## Key findings

- The mutation in the smg-1(r861) allele was identified for the first time.
- A restriction digestion-based method was developed to genotype the smg-1(r861) allele quickly.

## Abstract

The

C. elegans


smg-1

gene encodes a PI3K-related kinase responsible for initiating the process of nonsense-mediated decay (NMD). The

smg-1
(
r861
)

allele is a strong loss-of-function variant that disrupts NMD activity leading to the stabilization of transcripts containing premature stop codons (PTCs). This allele has been used extensively in studies of RNA surveillance, transcript stability, and transgene regulation. Despite its widespread use, the mutation in

smg-1
(
r861
)

has not been reported, and identification is often based solely on phenotype. Here, we identify the underlying mutation and present a restriction digestion-based genotyping strategy that enables quick confirmation of the

smg-1
(
r861
)

allele.

## Linked entities

- **Genes:** SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase) [NCBI Gene 23049]
- **Species:** Caenorhabditis elegans (taxon 6239)

## Full-text entities

- **Genes:** unc-54 (Myosin-4) [NCBI Gene 259839], PIK3CB (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) [NCBI Gene 5291] {aka P110BETA, PI3K, PI3KBETA, PIK3C1}, UPF1 (UPF1 RNA helicase and ATPase) [NCBI Gene 5976] {aka HUPF1, NORF1, RENT1, UTF, pNORF1, smg-2}, SMG1 (SMG1 nonsense mediated mRNA decay associated PI3K related kinase) [NCBI Gene 23049] {aka 61E3.4, ATX, LIP}, smg-1 (Serine/threonine-protein kinase smg-1) [NCBI Gene 172418], RET (ret proto-oncogene) [NCBI Gene 5979] {aka CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1}
- **Chemicals:** ER2001 (-), Agarose (MESH:D012685), KCl (MESH:D011189), Tween 20 (MESH:D011136), MgCl 2 (MESH:D015636), NP-40 (MESH:C010615), HCl (MESH:D006851)
- **Species:** Homo sapiens (human, species) [taxon 9606], Caenorhabditis elegans (species) [taxon 6239], C. elegans [taxon 328850]

## Full text

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## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12921447/full.md

## References

13 references — full list in the complete paper: https://tomesphere.com/paper/PMC12921447/full.md

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Source: https://tomesphere.com/paper/PMC12921447