NMD机制及其对人类遗传病的治疗意义

被引：1

作者：

胡建燃

李平

机构：

[1] 长治学院生物科学与技术系

来源：

生命科学研究 | 2016年 / 20卷 / 06期

关键词：

无义介导的mRNA降解机制(NMD); 真核生物细胞; 提前终止子(PTC); 人类遗传病;

D O I：

10.16605/j.cnki.1007-7847.2016.06.013

中图分类号：

R596 [遗传性疾病];

学科分类号：

1002 ; 100201 ;

摘要：

无义介导的mRNA降解机制(nonsense-mediated mRNA decay,NMD)是真核细胞内重要的RNA质量监控机制,能够识别并降解含有提前终止子(premature termination codon,PTC)的mRNA,避免细胞内积累有害的截短蛋白质产物。同时,NMD机制还调控着大量不含PTC的mRNA稳定性,影响其蛋白质产物的含量。现综述了NMD机制的底物、调控因子及其对人类遗传病治疗意义的最新研究进展。

引用

页码：535 / 541

页数：7

共 22 条

[1] VHL综合征遗传学研究 [J].

袁腊梅 ;

虢毅 ;

邓昊 .

生命科学研究, 2012, 16 (02) :181-185

[2] Nonsense-mediated mRNA decay factor Upf2 exists in both the nucleoplasm and the cytoplasm [J].

Tatsuno, Takanori ;

Nakamura, Yuka ;

Ma, Shaofu ;

Tomosugi, Naohisa ;

Ishigaki, Yasuhito .

MOLECULAR MEDICINE REPORTS, 2016, 14 (01) :655-660

[3]

The Antagonistic Gene Paralogs Upf3a and Upf3b Govern Nonsense-Mediated RNA Decay[J] . Eleen Y. Shum,Samantha H. Jones,Ada Shao,Jennifer Dumdie,Matthew D. Krause,Wai-Kin Chan,Chih-Hong Lou,Josh L. Espinoza,Hye-Won Song,Mimi H. Phan,Madhuvanthi Ramaiah,Lulu Huang,John R. McCarrey,Kevin J. Peterson,Dirk G. De Rooij,Heidi Cook-Andersen,Miles F. Wilkinson.Cell . 2016

[4] Unique Aspects of Plant Nonsense-Mediated mRNA Decay [J].

Shaul, Orit .

TRENDS IN PLANT SCIENCE, 2015, 20 (11) :767-779

[5]

A network of SMG-8, SMG-9 and SMG-1 C-terminal insertion domain regulates UPF1 substrate recruitment and phosphorylation[J] . Aure?lien Deniaud,Manikandan Karuppasamy,Thomas Bock,Simonas Masiulis,Karine Huard,Fre?e?de?e?e?ric Garzoni,Kathrin Kerschgens,Matthias W. Hentze,Andreas E. Kulozik,Martin Beck,Gabriele Neu-Yilik,Christiane Schaffitzel.Nucleic Acids Research . 2015 (15)

[6]

Control of mRNA Stability in Fungi by NMD, EJC and CBC Factors Through 3'UTR Introns[J] . Zhang,Ying,Sachs,Matthew S.Genetics . 2015 (4)

[7]

Nonsense‐mediated RNA decay – a switch and dial for regulating gene expression[J] . Jenna E. Smith,Kristian E. Baker.BioEssays . 2015 (6)

[8] The unfolded protein response is shaped by the NMD pathway [J].

Karam, Rachid ;

Lou, Chih-Hong ;

Kroeger, Heike ;

Huang, Lulu ;

Lin, Jonathan H. ;

Wilkinson, Miles F. .

EMBO REPORTS, 2015, 16 (05) :599-609

[9]

Identification and characterization of novel factors that act in the nonsense‐mediated mRNA decay pathway in nematodes, flies and mammals[J] . Angela Casadio,Dasa Longman,Nele Hug,Laurent Delavaine,Raúl Vallejos Baier,Claudio R Alonso,Javier F Cáceres.EMBO rep . 2015 (1)

[10]

The SMG5–SMG7 heterodimer directly recruits the CCR4–NOT deadenylase complex to mRNAs containing nonsense codons via interaction with POP2[J] . Belinda Loh,Stefanie Jonas,Elisa Izaurralde.Genes & Development . 2013 (19)

← 1 2 3 →