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DAF-18/PTEN 错义突变体维持 Caenorhabditis elegans dauer 幼虫体生殖腺和生殖系静止能力的遗传分析。

Genetic analysis of DAF-18/PTEN missense mutants for the ability to maintain quiescence of the somatic gonad and germ line in Caenorhabditis elegans dauer larvae.

机构信息

Department of Biological Sciences, Columbia University, New York, NY 10027, USA.

出版信息

G3 (Bethesda). 2022 May 30;12(6). doi: 10.1093/g3journal/jkac093.

Abstract

The mammalian tumor suppressor PTEN has well-established lipid phosphatase and protein phosphatase activities. DAF-18, the Caenorhabditis elegans ortholog of PTEN, has a high degree of conservation in the catalytic domain, and human PTEN complements a null allele of daf-18, suggesting conserved protein function. Insights gleaned from studies of mammalian PTEN have been applied to studies of DAF-18 in C. elegans, including predicted enzymatic properties of mutants. Here, we characterize DAF-18 missense mutants previously treated as selectively disrupting either protein or lipid phosphatase activity in genetic assays to connect distinct phenotypes to specific enzymatic activities of DAF-18/PTEN. We analyze the ability of these mutants to maintain quiescence of the somatic gonad and germ line in dauer larvae, a state of diapause during which development is suspended. We show that transgenes expressing either the putative lipid phosphatase-deficient or putative protein phosphatase-deficient form fail to complement a daf-18 null allele, and that the corresponding homozygous endogenous missense mutant alleles fail to maintain developmental quiescence. We also show that the endogenous daf-18 missense alleles fail to complement each other, suggesting that one or both of the missense forms are not activity-selective. Furthermore, homozygous daf-18 missense mutants have a more severe phenotype than a daf-18 null mutant, suggesting the presence of functionally compromised mutant DAF-18 is more deleterious than the absence of DAF-18. We discuss how these genetic properties complicate the interpretation of genetic assays to associate specific enzymatic activities with specific phenotypes.

摘要

哺乳动物肿瘤抑制因子 PTEN 具有成熟的脂质磷酸酶和蛋白磷酸酶活性。DAF-18 是 PTEN 的秀丽隐杆线虫直系同源物,其催化结构域具有高度的保守性,人类 PTEN 可以补充 daf-18 的 null 等位基因,表明其具有保守的蛋白功能。从对哺乳动物 PTEN 的研究中获得的见解已应用于秀丽隐杆线虫中 DAF-18 的研究,包括对突变体的预测酶学特性的研究。在这里,我们对以前被认为选择性地破坏遗传测定中蛋白或脂质磷酸酶活性的 DAF-18 错义突变体进行了特征描述,以将不同的表型与 DAF-18/PTEN 的特定酶活性联系起来。我们分析了这些突变体在 dauer 幼虫中维持体生殖腺和生殖系静止的能力,dauer 幼虫是一种发育暂停的休眠状态。我们表明,表达假定的脂质磷酸酶缺陷或假定的蛋白磷酸酶缺陷形式的转基因都不能补充 daf-18 null 等位基因,并且相应的纯合内源性错义突变等位基因也不能维持发育静止。我们还表明,内源性的 daf-18 错义等位基因不能相互补充,这表明一种或两种错义形式都不是活性选择性的。此外,纯合的 daf-18 错义突变体比 daf-18 null 突变体具有更严重的表型,这表明功能受损的突变 DAF-18 的存在比缺乏 DAF-18 更具危害性。我们讨论了这些遗传特性如何使与特定表型相关联的特定酶活性的遗传测定的解释变得复杂。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b76/9157151/a784b48f1f43/jkac093f1.jpg

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