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

microPublication biology Pub Date : 2026-02-05 eCollection Date: 2026-01-01 DOI:10.17912/micropub.biology.002026
Michael Zoberman, John A Calarco
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引用次数: 0

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.

秀丽隐杆线虫smg-1(r861)等位基因的变异鉴定及分型策略
秀丽隐杆线虫的smg-1基因编码一种与pi3k相关的激酶,负责启动无义介导的衰变(NMD)过程。smg-1 (r861)等位基因是一种强大的功能缺失变体,它破坏NMD活性,导致含有过早停止密码子(ptc)的转录本稳定。该等位基因已广泛用于RNA监测、转录稳定性和转基因调控的研究中。尽管广泛使用,但smg-1 (r861)的突变尚未报道,并且鉴定通常仅基于表型。在这里,我们确定了潜在的突变,并提出了一种基于限制性消化的基因分型策略,可以快速确认smg-1 (r861)等位基因。
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