Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease

Cell

Volumn 162, Issue 3, 2015, Pages 516-526

  Lee, Jong Min ^a   Wheeler, Vanessa C ^a   Chao, Michael J ^a   Vonsattel, Jean Paul G ^a   Pinto, Ricardo Mouro ^a   Lucente, Diane ^a   Abu Elneel, Kawther ^a   Ramos, Eliana Marisa ^a   Mysore, Jayalakshmi Srinidhi ^a   Gillis, Tammy ^a   MacDonald, Marcy E ^a   Gusella, James F ^a   Harold, Denise ^a   Stone, Timothy C ^a   Escott Price, Valentina ^a   Han, Jun ^a   Vedernikov, Alexey ^a   Holmans, Peter ^a   Jones, Lesley ^a   Kwak, Seung ^a   Mahmoudi, Mithra ^a   Orth, Michael ^a   Landwehrmeyer, G Bernhard ^a   Paulsen, Jane S ^a   Dorsey, E Ray ^a   Shoulson, Ira ^a   Myers, Richard H ^a   more..

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN MLH1; HTT PROTEIN, HUMAN; MLH1 PROTEIN, HUMAN; NERVE PROTEIN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; ALLELE; ARTICLE; CAG REPEAT; CHROMOSOME; DNA REPAIR; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOTYPE; HEREDITY; HUMAN; HUNTINGTON CHOREA; MISMATCH REPAIR; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; CHROMOSOME 15; CHROMOSOME 8; GENETICS; HUNTINGTON DISEASE; METABOLISM; MODIFIER GENE; PATHOPHYSIOLOGY; TRINUCLEOTIDE REPEAT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 8; GENES, MODIFIER; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HUNTINGTON DISEASE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; TRINUCLEOTIDE REPEATS;

EID: 84938389137     PISSN: 00928674     EISSN: 10974172     Source Type: Journal    
DOI: 10.1016/j.cell.2015.07.003     Document Type: Article

References (39)

1. F. Antonacci, M.Y. Dennis, J. Huddleston, P.H. Sudmant, K.M. Steinberg, J.A. Rosenfeld, M. Miroballo, T.A. Graves, L. Vives, M. Malig, and et al. Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability Nat. Genet. 46 2014 1293 1302
2. N. Aronin, and M. DiFiglia Huntingtin-lowering strategies in Huntington's disease: antisense oligonucleotides, small RNAs, and gene editing Mov. Disord. 29 2014 1455 1461
3. A. Bourdon, L. Minai, V. Serre, J.P. Jais, E. Sarzi, S. Aubert, D. Chrétien, P. de Lonlay, V. Paquis-Flucklinger, H. Arakawa, and et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion Nat. Genet. 39 2007 776 780
4. M.B. Brown A method for combining non-independent, one-sided tests of significance Biometrics 31 1975 978 992
5. I. Chaudhury, D.R. Stroik, and A. Sobeck FANCD2-controlled chromatin access of the Fanconi-associated nuclease FAN1 is crucial for the recovery of stalled replication forks Mol. Cell. Biol. 34 2014 3939 3954
6. L. Djoussé, B. Knowlton, M. Hayden, E.W. Almqvist, R. Brinkman, C. Ross, R. Margolis, A. Rosenblatt, A. Durr, C. Dode, and et al. Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease Am. J. Med. Genet. A. 119A 2003 279 282
7. E. Dorsey Huntington Study Group COHORT Investigators Characterization of a large group of individuals with huntington disease and their relatives enrolled in the COHORT study PLoS ONE 7 2012 e29522
8. E. Dragileva, A. Hendricks, A. Teed, T. Gillis, E.T. Lopez, E.C. Friedberg, R. Kucherlapati, W. Edelmann, K.L. Lunetta, M.E. MacDonald, and V.C. Wheeler Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes Neurobiol. Dis. 33 2009 37 47
9. J. Gayán, D. Brocklebank, J.M. Andresen, G. Alkorta-Aranburu, M. Zameel Cader, S.A. Roberts, S.S. Cherny, N.S. Wexler, L.R. Cardon, D.E. Housman US-Venezuela Collaborative Research Group Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds Genet. Epidemiol. 32 2008 445 453
10. J.F. Gusella, and M.E. MacDonald Huntington's disease: seeing the pathogenic process through a genetic lens Trends Biochem. Sci. 31 2006 533 540
11. J.F. Gusella, M.E. MacDonald, and J.M. Lee Genetic modifiers of Huntington's disease Mov. Disord. 29 2014 1359 1365
12. K. Hnia, I. Vaccari, A. Bolino, and J. Laporte Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology Trends Mol. Med. 18 2012 317 327
13. P. Holmans, E.K. Green, J.S. Pahwa, M.A. Ferreira, S.M. Purcell, P. Sklar, M.J. Owen, M.C. O'Donovan, N. Craddock Wellcome Trust Case-Control Consortium Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder Am. J. Hum. Genet. 85 2009 13 24
14. Huntington Study Group PHAROS Investigators At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled Arch. Neurol. 63 2006 991 996
15. Huntington Study Group TREND-HD Investigators Randomized controlled trial of ethyl-eicosapentaenoic acid in Huntington disease: the TREND-HD study Arch. Neurol. 65 2008 1582 1589
16. I. Ionita-Laza, B. Xu, V. Makarov, J.D. Buxbaum, J.L. Roos, J.A. Gogos, and M. Karayiorgou Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism Proc. Natl. Acad. Sci. USA 111 2014 343 348
17. K. Kratz, B. Schöpf, S. Kaden, A. Sendoel, R. Eberhard, C. Lademann, E. Cannavó, A.A. Sartori, M.O. Hengartner, and J. Jiricny Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes cells to interstrand crosslinking agents Cell 142 2010 77 88
18. M.L. Kuo, A.J. Sy, L. Xue, M. Chi, M.T. Lee, T. Yen, M.I. Chiang, L. Chang, P. Chu, and Y. Yen RRM2B suppresses activation of the oxidative stress pathway and is up-regulated by p53 during senescence Sci Rep 2 2012 822
19. J.M. Lee, T. Gillis, J.S. Mysore, E.M. Ramos, R.H. Myers, M.R. Hayden, P.J. Morrison, M. Nance, C.A. Ross, R.L. Margolis, and et al. Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region Am. J. Hum. Genet. 90 2012 434 444
20. J.M. Lee, E.M. Ramos, J.H. Lee, T. Gillis, J.S. Mysore, M.R. Hayden, S.C. Warby, P. Morrison, M. Nance, C.A. Ross, et al. PREDICT-HD study of the Huntington Study Group (HSG) REGISTRY study of the European Huntington's Disease Network HD-MAPS Study Group COHORT study of the HSG CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion Neurology 78 2012 690 695
21. J.L. Li, M.R. Hayden, E.W. Almqvist, R.R. Brinkman, A. Durr, C. Dodé, P.J. Morrison, O. Suchowersky, C.A. Ross, R.L. Margolis, and et al. A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study Am. J. Hum. Genet. 73 2003 682 687
22. J.L. Li, M.R. Hayden, S.C. Warby, A. Durr, P.J. Morrison, M. Nance, C.A. Ross, R.L. Margolis, A. Rosenblatt, F. Squitieri, and et al. Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study BMC Med. Genet. 7 2006 71
23. T. Liu, G. Ghosal, J. Yuan, J. Chen, and J. Huang FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair Science 329 2010 693 696
24. C. MacKay, A.C. Déclais, C. Lundin, A. Agostinho, A.J. Deans, T.J. MacArtney, K. Hofmann, A. Gartner, S.C. West, T. Helleday, and et al. Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2 Cell 142 2010 65 76
25. T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, D.J. Hunter, M.I. McCarthy, E.M. Ramos, L.R. Cardon, A. Chakravarti, and et al. Finding the missing heritability of complex diseases Nature 461 2009 747 753
26. V. Moskvina, C. O'Dushlaine, S. Purcell, N. Craddock, P. Holmans, and M.C. O'Donovan Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study Genet. Epidemiol. 35 2011 861 866
27. Z. Ortega, and J.J. Lucas Ubiquitin-proteasome system involvement in Huntington's disease Front. Mol. Neurosci. 7 2014 77
28. M. Orth, O.J. Handley, C. Schwenke, S.B. Dunnett, D. Craufurd, A.K. Ho, E. Wild, S.J. Tabrizi, G.B. Landwehrmeyer Investigators of the European Huntington's Disease Network Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY PLoS Curr. 2 2010 RRN1184
29. J.S. Paulsen, D.R. Langbehn, J.C. Stout, E. Aylward, C.A. Ross, M. Nance, M. Guttman, S. Johnson, M. MacDonald, L.J. Beglinger, et al. Predict-HD Investigators and Coordinators of the Huntington Study Group Detection of Huntington's disease decades before diagnosis: the Predict-HD study J. Neurol. Neurosurg. Psychiatry 79 2008 874 880
30. R.M. Pinto, E. Dragileva, A. Kirby, A. Lloret, E. Lopez, J. St Claire, G.B. Panigrahi, C. Hou, K. Holloway, T. Gillis, and et al. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches PLoS Genet. 9 2013 e1003930
31. G. Pontarin, P. Ferraro, C. Rampazzo, G. Kollberg, E. Holme, P. Reichard, and V. Bianchi Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductase J. Biol. Chem. 286 2011 11132 11140
32. G. Pontarin, P. Ferraro, L. Bee, P. Reichard, and V. Bianchi Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells Proc. Natl. Acad. Sci. USA 109 2012 13302 13307
33. C.A. Ross, E.H. Aylward, E.J. Wild, D.R. Langbehn, J.D. Long, J.H. Warner, R.I. Scahill, B.R. Leavitt, J.C. Stout, J.S. Paulsen, and et al. Huntington disease: natural history, biomarkers and prospects for therapeutics Nat Rev Neurol 10 2014 204 216
34. R. Sehgal, K. Sheahan, P.R. O'Connell, A.M. Hanly, S.T. Martin, and D.C. Winter Lynch syndrome: an updated review Genes (Basel) 5 2014 497 507
35. M. Swami, A.E. Hendricks, T. Gillis, T. Massood, J. Mysore, R.H. Myers, and V.C. Wheeler Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset Hum. Mol. Genet. 18 2009 3039 3047
36. The Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes Cell 72 1993 971 983
37. K. Wang, M. Li, and M. Bucan Pathway-based approaches for analysis of genomewide association studies Am. J. Hum. Genet. 81 2007 1278 1283
38. L.A. Weiss, D.E. Arking, M.J. Daly, A. Chakravarti Gene Discovery Project of Johns Hopkins & the Autism Consortium A genome-wide linkage and association scan reveals novel loci for autism Nature 461 2009 802 808
39. N.S. Wexler, J. Lorimer, J. Porter, F. Gomez, C. Moskowitz, E. Shackell, K. Marder, G. Penchaszadeh, S.A. Roberts, J. Gayán, et al. U.S.-Venezuela Collaborative Research Project Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington's disease age of onset Proc. Natl. Acad. Sci. USA 101 2004 3498 3503