Pulak R, Anderson P
Department of Genetics, University of Wisconsin, Madison 53706.
Genes Dev. 1993 Oct;7(10):1885-97. doi: 10.1101/gad.7.10.1885.
mRNAs that contain premature stop codons are unstable in most eukaryotes, but the mechanism of their degradation is largely unknown. We demonstrate that functions of the six C. elegans smg genes are necessary for rapid turnover of nonsense mutant mRNAs of the unc-54 myosin heavy chain gene. Nonsense alleles of unc-54 express mRNAs that are unstable in smg(+) genetic backgrounds but have normal or near normal stability in smg(-) backgrounds. smg mutations also stabilize mRNA of unc-54(r293), a small deletion that removes the unc-54 polyadenylation site and expresses an aberrant mRNA. Most unc-54 nonsense mutations are recessive in both smg(+) and smg(-) genetic backgrounds. However, four specific alleles are recessive when smg(+) and dominant when smg(-). These smg-dependent dominant alleles express nonsense mutant polypeptides that disrupt thick filament and/or sarcomere assembly. All four alleles are predicted to express nonsense fragment polypeptides that contain most of the myosin globular head domain without an attached rod segment. By degrading messages that contain premature stop codons, the smg genes eliminate mRNAs that encode potentially toxic protein fragments. We propose that this system of mRNA turnover protects cells from their own errors of transcription, mRNA processing, or mRNA transport.
在大多数真核生物中,含有提前终止密码子的信使核糖核酸(mRNA)是不稳定的,但其降解机制在很大程度上尚不清楚。我们证明,秀丽隐杆线虫(Caenorhabditis elegans)的六个smg基因的功能对于肌球蛋白重链基因unc-54的无义突变mRNA的快速周转是必需的。unc-54的无义等位基因所表达的mRNA在野生型smg(+)遗传背景下不稳定,但在smg(-)背景下具有正常或接近正常的稳定性。smg突变也使unc-54(r293)的mRNA稳定,unc-54(r293)是一个小缺失,它去除了unc-54的聚腺苷酸化位点并表达异常mRNA。大多数unc-54无义突变在smg(+)和smg(-)遗传背景中都是隐性的。然而,四个特定的等位基因在smg(+)时是隐性的,而在smg(-)时是显性的。这些依赖smg的显性等位基因表达无义突变多肽,这些多肽会破坏粗肌丝和/或肌节的组装。所有四个等位基因预计都会表达无义片段多肽,这些多肽包含大部分肌球蛋白球状头部结构域,而没有连接的杆状结构域。通过降解含有提前终止密码子的信使核糖核酸,smg基因消除了编码潜在有毒蛋白质片段的mRNA。我们提出,这种信使核糖核酸周转系统可保护细胞免受自身转录、信使核糖核酸加工或信使核糖核酸运输错误的影响。