CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Nature Communications

Volumn 7, Issue , 2016, Pages

  Williams, Kelly L ^a,b,c   Topp, Simon ^d   Yang, Shu ^a,b   Smith, Bradley ^d   Fifita, Jennifer A ^a,b   Warraich, Sadaf T ^a   Zhang, Katharine Y ^a   Farrawell, Natalie ^e   Vance, Caroline ^d   Hu, Xun ^d   Chesi, Alessandra ^f   Leblond, Claire S ^g,h   Lee, Albert ^a   Rayner, Stephanie L ^a   Sundaramoorthy, Vinod ^a,i   Dobson Stone, Carol ^j,k   Molloy, Mark P ^a   Van Blitterswijk, Marka ^l   Dickson, Dennis W ^l   Petersen, Ronald C ^m   Graff Radford, Neill R ^l   Boeve, Bradley F ^m   Murray, Melissa E ^l   Pottier, Cyril ^l   Don, Emily ^a   Winnick, Claire ^a   McCann, Emily P ^a   Hogan, Alison ^a   Daoud, Hussein ^g,h   Levert, Annie ^g,h   Dion, Patrick A ^g,h   Mitsui, Jun ⁿ   Ishiura, Hiroyuki ⁿ   Takahashi, Yuji ⁿ   Goto, Jun ⁿ   Kost, Jason ^o,p   Gellera, Cinzia ^q   Gkazi, Athina Soragia ^d   Miller, Jack ^d   Stockton, Joanne ^r   Brooks, William S ^j   Boundy, Karyn ^s   Polak, Meraida ^t   Muñoz Blanco, José Luis ^u   Esteban Pérez, Jesús ^v,w   Rábano, Alberto ^x   Hardiman, Orla ^y   Morrison, Karen E ^r,z,aa   Ticozzi, Nicola ^ab,ac   Silani, Vincenzo ^ab,ac   De Belleroche, Jacqueline ^ad   Glass, Jonathan D ^t   Kwok, John B J ^j,k   Guillemin, Gilles J ^a   Chung, Roger S ^a   Tsuji, Shoji ^n,ae   Brown, Robert H ^p   García Redondo, Alberto ^v,w   Rademakers, Rosa ^l   Landers, John E ^p   Gitler, Aaron D ^f   Rouleau, Guy A ^g,h   Cole, Nicholas J ^a,c   Yerbury, Justin J ^e   Atkin, Julie D ^a,i   Shaw, Christopher E ^d   Nicholson, Garth A ^a,b,c,af   Blair, Ian P ^a,b   more..

^a MACQUARIE UNIVERSITY   (Australia)

^b ANZAC RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF WOLLONGONG   (Australia)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g MCGILL UNIVERSITY   (Canada)

^h UNIVERSITÉ DE MONTRÉAL   (Canada)

ⁱ LA TROBE UNIVERSITY   (Australia)

^j NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

^k UNIVERSITY OF NEW SOUTH WALES   (Australia)

^l MAYO CLINIC   (United States)

^m MAYO CLINIC ROCHESTER   (United States)

ⁿ UNIVERSITY OF TOKYO HOSPITAL   (Japan)

^o WORCESTER POLYTECHNIC INSTITUTE   (United States)

^p UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^q DEPARTMENT OF NEUROSURGERY   (Italy)

^r UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^s QUEEN ELIZABETH HOSPITAL   (Australia)

^t EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^u HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^v Universidad Complutense   (Spain)

^w CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^x Instituto de Salud Carlos III   (Spain)

^y TRINITY COLLEGE DUBLIN   (Ireland)

^z QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^aa UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^ab ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^ac UNIVERSITY OF MILAN   (Italy)

^ad HAMMERSMITH HOSPITAL   (United Kingdom)

^ae UNIVERSITY OF TOKYO   (Japan)

^af ANZAC Research Institute   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN F; CYCLINE; GENOMIC DNA; TAR DNA BINDING PROTEIN; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG; CCNF PROTEIN, HUMAN;

CELLS AND CELL COMPONENTS; CHROMOSOME; DISEASE INCIDENCE; GENE EXPRESSION; HOMEOSTASIS; MUTATION; NEUROLOGY; PATHOLOGY; PROTEIN; SUBSTRATE;

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BRAIN NERVE CELL; CHROMOSOME 16; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FRONTOTEMPORAL DEMENTIA; GENE LOCUS; GENETIC LINKAGE; HUMAN; IMMUNOPRECIPITATION; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PROTEIN HOMEOSTASIS; UBIQUITINATION; ADULT; AGED; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOMAL MAPPING; DNA SEQUENCE; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MALE; MIDDLE AGED; PEDIGREE; PROCEDURES; SEQUENCE HOMOLOGY; TUMOR CELL LINE;

ADULT; AGED; AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CELL LINE, TUMOR; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; CYCLINS; FAMILY HEALTH; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84964430150     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms11253     Document Type: Article

References (37)

1. Rosen, D. R. et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362, 59-62 (1993).
2. Sreedharan, J. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668-1672 (2008).
3. Vance, C. et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208-1211 (2009).
4. Deng, H. X. et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211-215 (2011).
5. Wu, C. H. et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488, 499-503 (2012).
6. Maruyama, H. et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465, 223-226 (2010).
7. De Jesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
8. Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
9. Johnson, J. O. et al. Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS. Neuron 68, 857-864 (2010).
10. Johnson, J. O. et al. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat. Neurosci. 17, 664-666 (2014).
11. Smith, B. N. et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84, 324-331 (2014).
12. Neumann, M. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133 (2006).
13. Robberecht, W. & Philips, T. The changing scene of amyotrophic lateral sclerosis. Nat. Rev. Neurosci. 14, 248-264 (2013).
14. D'Angiolella, V. et al. SCF(Cyclin F) controls centrosome homeostasis and mitotic fidelity through CP110 degradation. Nature 466, 138-142 (2010).
15. Bai, C. et al. SKP1 connects cell cycle regulators to the ubiquitin proteolysis machinery through a novel motif, the F-box. Cell 86, 263-274 (1996).
16. D'Angiolella, V., Esencay, M. & Pagano, M. A cyclin without cyclin-dependent kinases: cyclin F controls genome stability through ubiquitin-mediated proteolysis. Trends Cell Biol. 23, 135-140 (2013).
17. Ling, S. C., Polymenidou, M. & Cleveland, D. W. Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron 79, 416-438 (2013).
18. Bence, N. F., Sampat, R. M. & Kopito, R. R. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 292, 1552-1555 (2001).
19. Duennwald, M. L. & Lindquist, S. Impaired ERAD and ER stress are early and specific events in polyglutamine toxicity. Genes Dev. 22, 3308-3319 (2008).
20. Williams, K. L. et al. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol. Aging 33, 2527 e2523-2527 (2012).
21. Fecto, F. et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68, 1440-1446 (2011).
22. Weihl, C. C. Valosin containing protein associated fronto-temporal lobar degeneration: clinical presentation, pathologic features and pathogenesis. Curr. Alzheimer Res. 8, 252-260 (2011).
23. Zhao, T. et al. Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15). PLoS ONE 6, e16983 (2011).
24. Bandopadhyay, R. & de Belleroche, J. Pathogenesis of Parkinson's disease: emerging role of molecular chaperones. Trends Mol. Med. 16, 27-36 (2010).
25. Li, Y. R. et al. Stress granules as crucibles of ALS pathogenesis. J. Cell Biol. 201, 361-372 (2013).
26. Heck, M. V. et al. Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue. Neurogenetics 15, 135-144 (2014).
27. Brooks, B. R., Miller, R. G., Swash, M. & Munsat, T. L. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Other Motor Neuron Disord 1, 293-299 (2000).
28. Lathrop, G. M. & Lalouel, J. M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36, 460-465 (1984).
29. Lindner, T. H. & Hoffmann, K. easy LINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics 21, 405-407 (2005).
30. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
31. Li, H. et al. The sequence alignment/map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
32. Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
33. R Core Team. R: A language and environment for statistical computing (R Foundation for Statistical Computing, Vienna, Austria, 2014).
34. McKenna, A. et al. The Genome Analysis Toolkit: a Map Reduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
35. De Pristo, M. A. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
36. Van der Auwera, G. A. et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics 43, 11.10.1-11.10.33 (2013).
37. Bence, N. F., Bennett, E. J. & Kopito, R. R. Application and analysis of the GFPu family of ubiquitin-proteasome system reporters. Methods Enzymol. 399, 481-490 (2005).