The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

被引：157

作者：

Haeusler, Aaron R. ^{[1
]}

Donnelly, Christopher J. ^{[2
,3
]}

Rothstein, Jeffrey D. ^{[4
,5
,6
]}

机构：

[1] Johns Hopkins Univ, Dept Biochem & Mol Biol, Bloomberg Sch Publ Hlth, Baltimore, MD 21205 USA

[2] Univ Pittsburgh, Sch Med, Dept Neurobiol, Pittsburgh, PA 15260 USA

[3] Univ Pittsburgh, Live Lou Ctr ALS Res, Inst Brain, Pittsburgh, PA 15261 USA

[4] Johns Hopkins Univ, Sch Med, Brain Sci Inst, Baltimore, MD 21205 USA

[5] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[6] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA

来源：

NATURE REVIEWS NEUROSCIENCE | 2016年 / 17卷 / 06期

基金：

美国国家卫生研究院;

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; T7; RNA-POLYMERASE; HEXANUCLEOTIDE REPEAT; G-QUADRUPLEX; GGGGCC REPEAT; R-LOOPS; ANTISENSE OLIGONUCLEOTIDE; MOTOR-NEURONS; NUCLEAR-RNA;

D O I：

10.1038/nrn.2016.38

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene was the first of this type of mutation to be linked to multiple neurological conditions, including amyotrophic lateral sclerosis and frontotemporal dementia. The pathogenic mechanisms through which the C9orf72 NRE contributes to these disorders include loss of C9orf72 function and gain-of-function mechanisms of C9orf72 driven by toxic RNA and protein species encoded by the NRE. These mechanisms have been linked to several cellular defects-including nucleocytoplasmic trafficking deficits and nuclear stress-that have been observed in both patients and animal models.

引用

页码：383 / U79

页数：13

共 148 条

[51] Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS [J].

Jovicic, Ana ;

Mertens, Jerome ;

Boeynaems, Steven ;

Bogaert, Elke ;

Chai, Noori ;

Yamada, Shizuka B. ;

Paul, Joseph W., III ;

Sun, Shuying ;

Herdy, Joseph R. ;

Bieri, Gregor ;

Kramer, Nicholas J. ;

Gage, Fred H. ;

Van den Bosch, Ludo ;

Robberecht, Wim ;

Gitler, Aaron D. .

NATURE NEUROSCIENCE, 2015, 18 (09) :1226-+

[52] A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy [J].

Keil, Jeffrey M. ;

Seo, Joonbae ;

Howell, Matthew D. ;

Hsu, Walter H. ;

Singh, Ravindra N. ;

DiDonato, Christine J. .

MOLECULAR THERAPY-NUCLEIC ACIDS, 2014, 3 :e174

[53] A draft map of the human proteome [J].

Kim, Min-Sik ;

Pinto, Sneha M. ;

Getnet, Derese ;

Nirujogi, Raja Sekhar ;

Manda, Srikanth S. ;

Chaerkady, Raghothama ;

Madugundu, Anil K. ;

Kelkar, Dhanashree S. ;

Isserlin, Ruth ;

Jain, Shobhit ;

Thomas, Joji K. ;

Muthusamy, Babylakshmi ;

Leal-Rojas, Pamela ;

Kumar, Praveen ;

Sahasrabuddhe, Nandini A. ;

Balakrishnan, Lavanya ;

Advani, Jayshree ;

George, Bijesh ;

Renuse, Santosh ;

Selvan, Lakshmi Dhevi N. ;

Patil, Arun H. ;

Nanjappa, Vishalakshi ;

Radhakrishnan, Aneesha ;

Prasad, Samarjeet ;

Subbannayya, Tejaswini ;

Raju, Rajesh ;

Kumar, Manish ;

Sreenivasamurthy, Sreelakshmi K. ;

Marimuthu, Arivusudar ;

Sathe, Gajanan J. ;

Chavan, Sandip ;

Datta, Keshava K. ;

Subbannayya, Yashwanth ;

Sahu, Apeksha ;

Yelamanchi, Soujanya D. ;

Jayaram, Savita ;

Rajagopalan, Pavithra ;

Sharma, Jyoti ;

Murthy, Krishna R. ;

Syed, Nazia ;

Goel, Renu ;

Khan, Aafaque A. ;

Ahmad, Sartaj ;

Dey, Gourav ;

Mudgal, Keshav ;

Chatterjee, Aditi ;

Huang, Tai-Chung ;

Zhong, Jun ;

Wu, Xinyan ;

Shaw, Patrick G. .

NATURE, 2014, 509 (7502) :575-+

[54] A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites [J].

Koole, Wouter ;

van Schendel, Robin ;

Karambelas, Andrea E. ;

van Heteren, Jane T. ;

Okihara, Kristy L. ;

Tijsterman, Marcel .

NATURE COMMUNICATIONS, 2014, 5

[55] C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits [J].

Koppers, Max ;

Blokhuis, Anna M. ;

Westeneng, Henk-Jan ;

Terpstra, Margo L. ;

Zundel, Caroline A. C. ;

de Sa, Renata Vieira ;

Schellevis, Raymond D. ;

Waite, Adrian J. ;

Blake, Derek J. ;

Veldink, Jan H. ;

van den Berg, Leonard H. ;

Pasterkamp, R. Jeroen .

ANNALS OF NEUROLOGY, 2015, 78 (03) :426-438

[56] Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C-elegans [J].

Kruisselbrink, Evelien ;

Guryev, Victor ;

Brouwer, Karin ;

Pontier, Daphne B. ;

Cuppen, Edwin ;

Tijsterman, Marcel .

CURRENT BIOLOGY, 2008, 18 (12) :900-905

[57] Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells [J].

Kwon, Ilmin ;

Xiang, Siheng ;

Kato, Masato ;

Wu, Leeju ;

Theodoropoulos, Pano ;

Wang, Tao ;

Kim, Jiwoong ;

Yun, Jonghyun ;

Xie, Yang ;

McKnight, Steven L. .

SCIENCE, 2014, 345 (6201) :1139-1145

[58] Repeat expansion disease: progress and puzzles in disease pathogenesis [J].

La Spada, Albert R. ;

Taylor, J. Paul .

NATURE REVIEWS GENETICS, 2010, 11 (04) :247-258

[59] Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration [J].

Lagier-Tourenne, Clotilde ;

Baughn, Michael ;

Rigo, Frank ;

Sun, Shuying ;

Liu, Patrick ;

Li, Hai-Ri ;

Jiang, Jie ;

Watt, Andrew T. ;

Chun, Seung ;

Katz, Melanie ;

Qiu, Jinsong ;

Sun, Ying ;

Ling, Shuo-Chien ;

Zhu, Qiang ;

Polymenidou, Magdalini ;

Drenner, Kevin ;

Artates, Jonathan W. ;

McAlonis-Downes, Melissa ;

Markmiller, Sebastian ;

Hutt, Kasey R. ;

Pizzo, Donald P. ;

Cady, Janet ;

Harms, Matthew B. ;

Baloh, Robert H. ;

Vandenberg, Scott R. ;

Yeo, Gene W. ;

Fu, Xiang-Dong ;

Bennett, C. Frank ;

Cleveland, Don W. ;

Ravits, John .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (47) :E4530-E4539

[60] Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic [J].

Lee, Youn-Bok ;

Chen, Han-Jou ;

Peres, Joao N. ;

Gomez-Deza, Jorge ;

Attig, Jan ;

Stalekar, Maja ;

Troakes, Claire ;

Nishimura, Agnes L. ;

Scotter, Emma L. ;

Vance, Caroline ;

Adachi, Yoshitsugu ;

Sardone, Valentina ;

Miller, Jack W. ;

Smith, Bradley N. ;

Gallo, Jean-Marc ;

Ule, Jernej ;

Hirth, Frank ;

Rogelj, Boris ;

Houart, Corinne ;

Shaw, Christopher E. .

CELL REPORTS, 2013, 5 (05) :1178-1186

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