挖掘疾病模型的力量：转化医学的魅力。
Gained in translation: The power of digging deep into disease models.
机构信息
Department of Biochemistry and Molecular Biology, Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey 08854
出版信息
J Biol Chem. 2019 Sep 27;294(39):14201-14202. doi: 10.1074/jbc.H119.010864.
Abstract
Mutations affecting the SECISBP2 protein necessary for selenocysteine incorporation are linked to human disease, but with a wide range of clinical outcomes. To gain insight into this diversity, Zhao dissect the phenotypic and molecular consequences of two specific mutations in the gene that partially disrupt selenoprotein synthesis. They observe surprising tissue-dependent effects, emphasizing the complexities of translational science.
摘要
影响 SECISBP2 蛋白的突变与人类疾病有关，但临床结果差异很大。为了深入了解这种多样性，Zhao 分析了该基因中两个特定突变的表型和分子后果，这些突变部分破坏了硒蛋白的合成。他们观察到令人惊讶的组织依赖性影响，强调了翻译科学的复杂性。
相似文献
1
Gained in translation: The power of digging deep into disease models.挖掘疾病模型的力量：转化医学的魅力。
J Biol Chem. 2019 Sep 27;294(39):14201-14202. doi: 10.1074/jbc.H119.010864.
2
Ribosome profiling of selenoproteins reveals consequences of pathogenic missense mutations.硒蛋白的核糖体图谱分析揭示了致病性错义突变的后果。
J Biol Chem. 2019 Sep 27;294(39):14185-14200. doi: 10.1074/jbc.RA119.009369. Epub 2019 Jul 26.
3
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.硒蛋白生物合成和功能的突变和先天错误的后果。
Free Radic Biol Med. 2018 Nov 1;127:206-214. doi: 10.1016/j.freeradbiomed.2018.04.572. Epub 2018 Apr 27.
4
The RNA-binding protein Secisbp2 differentially modulates UGA codon reassignment and RNA decay.RNA结合蛋白Secisbp2对UGA密码子重新分配和RNA衰变有不同的调节作用。
Nucleic Acids Res. 2017 Apr 20;45(7):4094-4107. doi: 10.1093/nar/gkw1255.
5
Interplay between termination and translation machinery in eukaryotic selenoprotein synthesis.真核生物硒蛋白合成中终止与翻译机制之间的相互作用。
J Mol Biol. 2001 Jul 20;310(4):699-707. doi: 10.1006/jmbi.2001.4809.
6
Why 21? The significance of selenoproteins for human health revealed by inborn errors of metabolism.为什么是21？代谢先天性缺陷揭示了硒蛋白对人类健康的重要性。
FASEB J. 2016 Nov;30(11):3669-3681. doi: 10.1096/fj.201600424. Epub 2016 Jul 29.
7
Loss of selenocysteine insertion sequence binding protein 2 suppresses the proliferation, migration/invasion and hormone secretion of human trophoblast cells via the PI3K/Akt and ERK signaling pathway.硒代半胱氨酸插入序列结合蛋白2的缺失通过PI3K/Akt和ERK信号通路抑制人滋养层细胞的增殖、迁移/侵袭及激素分泌。
Placenta. 2017 Jul;55:81-89. doi: 10.1016/j.placenta.2017.05.007. Epub 2017 May 10.
8
Mechanism and regulation of selenoprotein synthesis.硒蛋白合成的机制与调控。
Annu Rev Nutr. 2003;23:17-40. doi: 10.1146/annurev.nutr.23.011702.073318. Epub 2003 Jan 8.
9
Targeted deletion of Secisbp2 reduces, but does not abrogate, selenoprotein expression and leads to striatal interneuron loss.Secisbp2的靶向缺失会减少但不会消除硒蛋白的表达，并导致纹状体中间神经元丢失。
Free Radic Biol Med. 2014 Oct;75 Suppl 1:S9. doi: 10.1016/j.freeradbiomed.2014.10.849. Epub 2014 Dec 10.
10
Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis.导致硒蛋白生物合成中断的遗传疾病的鉴定。
Methods Mol Biol. 2018;1661:325-335. doi: 10.1007/978-1-4939-7258-6_23.
本文引用的文献
1
Ribosome profiling of selenoproteins reveals consequences of pathogenic missense mutations.硒蛋白的核糖体图谱分析揭示了致病性错义突变的后果。
J Biol Chem. 2019 Sep 27;294(39):14185-14200. doi: 10.1074/jbc.RA119.009369. Epub 2019 Jul 26.
2
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions.硒蛋白生物合成和功能的突变和先天错误的后果。
Free Radic Biol Med. 2018 Nov 1;127:206-214. doi: 10.1016/j.freeradbiomed.2018.04.572. Epub 2018 Apr 27.
3
The evolving versatility of selenium in biology.硒在生物学中不断演变的多功能性。
Antioxid Redox Signal. 2015 Oct 1;23(10):757-60. doi: 10.1089/ars.2015.6469.
4
Secisbp2 is essential for embryonic development and enhances selenoprotein expression.硒代半胱氨酸插入序列结合蛋白2对胚胎发育至关重要，并能增强硒蛋白的表达。
Antioxid Redox Signal. 2014 Aug 20;21(6):835-49. doi: 10.1089/ars.2013.5358. Epub 2014 Feb 4.
5
Translational redefinition of UGA codons is regulated by selenium availability.硒的可利用性调控 UGA 密码子的翻译重定义。
J Biol Chem. 2013 Jul 5;288(27):19401-13. doi: 10.1074/jbc.M113.481051. Epub 2013 May 21.
6
A novel protein domain induces high affinity selenocysteine insertion sequence binding and elongation factor recruitment.一种新型蛋白质结构域可诱导高亲和力的硒代半胱氨酸插入序列结合及延伸因子招募。
J Biol Chem. 2008 Dec 12;283(50):35129-39. doi: 10.1074/jbc.M806008200. Epub 2008 Oct 23.
7
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism.硒代半胱氨酸插入序列结合蛋白2（SECISBP2）的突变会导致甲状腺激素代谢异常。
Nat Genet. 2005 Nov;37(11):1247-52. doi: 10.1038/ng1654. Epub 2005 Oct 16.
8
A novel RNA binding protein, SBP2, is required for the translation of mammalian selenoprotein mRNAs.一种新型RNA结合蛋白SBP2是哺乳动物硒蛋白mRNA翻译所必需的。
EMBO J. 2000 Jan 17;19(2):306-14. doi: 10.1093/emboj/19.2.306.
9
Nucleotide sequence and expression of the selenocysteine-containing polypeptide of formate dehydrogenase (formate-hydrogen-lyase-linked) from Escherichia coli.大肠杆菌甲酸脱氢酶（与甲酸-氢裂解酶相连）含硒代半胱氨酸多肽的核苷酸序列及表达
Proc Natl Acad Sci U S A. 1986 Jul;83(13):4650-4. doi: 10.1073/pnas.83.13.4650.
Zotero 插件