人类硒代半胱氨酸转运RNA中的突变选择性地破坏硒蛋白的合成。

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

作者信息

Schoenmakers Erik, Carlson Bradley, Agostini Maura, Moran Carla, Rajanayagam Odelia, Bochukova Elena, Tobe Ryuta, Peat Rachel, Gevers Evelien, Muntoni Francesco, Guicheney Pascale, Schoenmakers Nadia, Farooqi Sadaf, Lyons Greta, Hatfield Dolph, Chatterjee Krishna

出版信息

J Clin Invest. 2016 Mar 1;126(3):992-6. doi: 10.1172/JCI84747. Epub 2016 Feb 8.

Abstract

Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclear genome-encoded, transfer RNA (tRNA[Ser]Sec). Here, we have identified a human tRNA[Ser]Sec mutation in a proband who presented with a variety of symptoms, including abdominal pain, fatigue, muscle weakness, and low plasma levels of selenium. This mutation resulted in a marked reduction in expression of stress-related, but not housekeeping, selenoproteins. Evaluation of primary cells from the homozygous proband and a heterozygous parent indicated that the observed deficit in stress-related selenoprotein production is likely mediated by reduced expression and diminished 2'-O-methylribosylation at uridine 34 in mutant tRNA[Ser]Sec. Moreover, this methylribosylation defect was restored by cellular complementation with normal tRNA[Ser]Sec. This study identifies a tRNA mutation that selectively impairs synthesis of stress-related selenoproteins and demonstrates the importance of tRNA modification for normal selenoprotein synthesis.

摘要

硒是一种对人体健康至关重要的微量元素,它通过独特的硒代半胱氨酸插入机制被整合到25种以上含硒代半胱氨酸(含Sec)的人类蛋白质中,该机制包括一种特定的、由核基因组编码的转运RNA(tRNA[Ser]Sec)。在此,我们在一名先证者中鉴定出一种人类tRNA[Ser]Sec突变,该先证者出现了多种症状,包括腹痛、疲劳、肌肉无力以及血浆硒水平低下。这种突变导致应激相关而非管家硒蛋白的表达显著降低。对来自纯合先证者和杂合亲本的原代细胞进行评估表明,观察到的应激相关硒蛋白产生缺陷可能是由突变型tRNA[Ser]Sec中尿苷34处的表达降低和2'-O-甲基核糖基化减少介导的。此外,通过用正常tRNA[Ser]Sec进行细胞互补,这种甲基核糖基化缺陷得以恢复。本研究鉴定出一种选择性损害应激相关硒蛋白合成的tRNA突变,并证明了tRNA修饰对正常硒蛋白合成的重要性。

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