U1 small nuclear ribonucleoprotein complex and RNA splicing alterations in Alzheimer's disease

Proceedings of the National Academy of Sciences of the United States of America

Volumn 110, Issue 41, 2013, Pages 16562-16567

  Bai, Bing ^a   Hales, Chadwick M ^a,b   Chen, Ping Chung ^a   Gozal, Yair ^a,b   Dammer, Eric B ^b   Fritz, Jason J ^a,b   Wang, Xusheng ^c   Xia, Qiangwei ^b   Duong, Duc M ^b   Street, Craig ^a   Cantero, Gloria ^d,e   Cheng, Dongmei ^b   Jones, Drew R ^a   Wu, Zhiping ^a   Li, Yuxin ^a   Diner, Ian ^b   Heilman, Craig J ^a,b   Rees, Howard D ^a,b   Wu, Hao ^a   Lin, Li ^a   Szulwach, Keith E ^a   Gearing, Marla ^a,b   Mufson, Elliott J ^f   Bennett, David A ^f   Montine, Thomas J ^g   Seyfried, Nicholas T ^b   Wingo, Thomas S ^a,b   Sun, Yi E ^d   Jin, Peng ^a,b   Hanfelt, John ^a,b   Willcock, Donna M ^h   Levey, Allan ^a,b   Lah, James J ^a,b   Peng, Junmin ^a,c   more..

^a Department of Structural Biology and Developmental Neurobiology ^*  (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f RUSH UNIVERSITY MEDICAL CENTER   (United States)

^g UNIVERSITY OF WASHINGTON   (United States)

^h UNIVERSITY OF KENTUCKY   (United States)

Author keywords

Liquid chromatography tandem mass spectrometry; Premature cleavage and polyadenylation; Proteomics; RNA seq; U1A

Indexed keywords

AMYLOID PRECURSOR PROTEIN; ANTISENSE OLIGONUCLEOTIDE; CLUSTERIN; MYC BOXDEPENDENT INTERACTING PROTEIN 1; MYC PROTEIN; PRESENILIN 1; PROTEOME; RNA; SMALL NUCLEAR RIBONUCLEOPROTEIN; U1 SMALL NUCLEAR RIBONUCLEOPROTEIN COMPLEX; UNCLASSIFIED DRUG;

ALZHEIMER DISEASE; ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CYTOPLASM; CYTOSKELETON; DEGENERATIVE DISEASE; FRONTOTEMPORAL DEMENTIA; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; INFLAMMATION; INHIBITION KINETICS; LIQUID CHROMATOGRAPHY; MASS SPECTROMETRY; NERVE CELL PLASTICITY; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PHOSPHORYLATION; RNA PROCESSING; RNA SEQUENCE; RNA SPLICING; SPLICEOSOME;

LIQUID CHROMATOGRAPHY-TANDEM MASS SPECTROMETRY; PREMATURE CLEAVAGE AND POLYADENYLATION; PROTEOMICS; RNA-SEQ; U1A;

ALTERNATIVE SPLICING; ALZHEIMER DISEASE; BLOTTING, WESTERN; BRAIN; CHROMATOGRAPHY, LIQUID; FLUORESCENT ANTIBODY TECHNIQUE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOHISTOCHEMISTRY; PROTEOME; PROTEOMICS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RIBONUCLEOPROTEIN, U1 SMALL NUCLEAR; SPLICEOSOMES; TANDEM MASS SPECTROMETRY;

EID: 84885333380     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1310249110     Document Type: Article

References (54)

1. Glenner GG, Wong CW (1984) Alzheimer's disease: Initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochem Biophys Res Commun 120(3):885-890.
2. Masters CL, et al. (1985) Amyloid plaque core protein in Alzheimer disease and Down syndrome. Proc Natl Acad Sci USA 82(12):4245-4249.
3. Lee VM, Balin BJ, Otvos L, Jr., Trojanowski JQ (1991) A68: A major subunit of paired helical filaments and derivatized forms of normal Tau. Science 251(4994):675-678.
4. Spillantini MG, et al. (1997) Alpha-synuclein in Lewy bodies. Nature 388(6645): 839-840.
5. Polymeropoulos MH, et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276(5321):2045-2047.
6. Neumann M, et al. (2006) Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314(5796):130-133.
7. Hardy J, Selkoe DJ (2002) The amyloid hypothesis of Alzheimer's disease: Progress and problems on the road to therapeutics. Science 297(5580):353-356.
8. Ballatore C, Lee VM, Trojanowski JQ (2007) Tau-mediated neurodegeneration in Alzheimer's disease and related disorders. Nat Rev Neurosci 8(9):663-672.
9. Pimplikar SW, Nixon RA, Robakis NK, Shen J, Tsai LH (2010) Amyloid-independent mechanisms in Alzheimer's disease pathogenesis. J Neurosci 30(45):14946-14954.
10. Gstaiger M, Aebersold R (2009) Applying mass spectrometry-based proteomics to genetics, genomics and network biology. Nat Rev Genet 10(9):617-627.
11. Choudhary C, Mann M (2010) Decoding signalling networks by mass spectrometrybased proteomics. Nat Rev Mol Cell Biol 11(6):427-439.
12. Hye A, et al. (2006) Proteome-based plasma biomarkers for Alzheimer's disease. Brain 129(Pt 11):3042-3050.
13. German DC, et al. (2007) Serum biomarkers for Alzheimer's disease: Proteomic discovery. Biomed Pharmacother 61(7):383-389.
14. Wada-Isoe K, et al. (2007) Serum proteomic profiling of dementia with Lewy bodies: Diagnostic potential of SELDI-TOF MS analysis. J Neural Transm 114(12):1579-1583.
15. Ryberg H, et al. (2010) Discovery and verification of amyotrophic lateral sclerosis biomarkers by proteomics. Muscle Nerve 42(1):104-111.
16. Wijte D, et al. (2012) A novel peptidomics approach to detect markers of Alzheimer's disease in cerebrospinal fluid. Methods 56(4):500-507.
17. Ringman JM, et al. (2012) Proteomic changes in cerebrospinal fluid of presymptomatic and affected persons carrying familial Alzheimer disease mutations. Arch Neurol 69(1):96-104.
18. Liao L, et al. (2004) Proteomic characterization of postmortem amyloid plaques isolated by laser capture microdissection. J Biol Chem 279(35):37061-37068.
19. Sultana R, et al. (2007) Proteomics analysis of the Alzheimer's disease hippocampal proteome. J Alzheimers Dis 11(2):153-164.
20. Xia Q, et al. (2008) Proteomic identification of novel proteins associated with Lewy bodies. Front Biosci 13:3850-3856.
21. Donovan LE, et al. (2012) Analysis of a membrane-enriched proteome from postmortem human brain tissue in Alzheimer's disease. Proteomics Clin Appl 6(3-4):201-211.
22. Rudrabhatla P, Jaffe H, Pant HC (2011) Direct evidence of phosphorylated neuronal intermediate filament proteins in neurofibrillary tangles (NFTs): Phosphoproteomics of Alzheimer's NFTs. FASEB J 25(11):3896-3905.
23. Xia Q, et al. (2008) Phosphoproteomic analysis of human brain by calcium phosphate precipitation and mass spectrometry. J Proteome Res 7(7):2845-2851.
24. Gozal YM, et al. (2009) Proteomics analysis reveals novel components in the detergentinsoluble subproteome in Alzheimer's disease. J Proteome Res 8(11):5069-5079.
25. Gozal YM, et al. (2011) Proteomic analysis of hippocampal dentate granule cells in frontotemporal lobar degeneration: Application of laser capture technology. Front Neurol 2:24.
26. Zhou JY, Hanfelt J, Peng J (2007) Clinical proteomics in neurodegenerative diseases. Proteomics Clin Appl 1(11):1342-1350.
27. Spillantini MG, et al. (1997) Familial multiple system tauopathy with presenile dementia: A disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci USA 94(8):4113-4118.
28. Fujiwara H, et al. (2002) Alpha-synuclein is phosphorylated in synucleinopathy lesions. Nat Cell Biol 4(2):160-164.
29. Weiner HL, Frenkel D (2006) Immunology and immunotherapy of Alzheimer's disease. Nat Rev Immunol 6(5):404-416.
30. Wyss-Coray T (2006) Inflammation in Alzheimer disease: Driving force, bystander or beneficial response? Nat Med 12(9):1005-1015.
31. Selkoe DJ (2002) Alzheimer's disease is a synaptic failure. Science 298(5594):789-791.
32. Lin MT, Beal MF (2006) Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 443(7113):787-795.
33. Staley JP, Guthrie C (1998) Mechanical devices of the spliceosome: Motors, clocks, springs, and things. Cell 92(3):315-326.
34. Taylor JP, Hardy J, Fischbeck KH (2002) Toxic proteins in neurodegenerative disease. Science 296(5575):1991-1995.
35. Ross CA, Poirier MA (2004) Protein aggregation and neurodegenerative disease. Nat Med 10(Suppl):S10-S17.
36. Kim HJ, et al. (2013) Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495(7442):467-473.
37. Pomeranz Krummel DA, Oubridge C, Leung AK, Li J, Nagai K (2009) Crystal structure of human spliceosomal U1 snRNP at 5.5 A resolution. Nature 458(7237):475-480.
38. Berson A, et al. (2012) Cholinergic-associated loss of hnRNP-A/B in Alzheimer's disease impairs cortical splicing and cognitive function in mice. EMBO Mol Med 4(8):730-742.
39. Mills JD, Janitz M (2012) Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases. Neurobiol Aging 33(5):1012.e1011-1024.
40. Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B (2008) Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods 5(7):621-628.
41. Geiss GK, et al. (2008) Direct multiplexed measurement of gene expression with colorcoded probe pairs. Nat Biotechnol 26(3):317-325.
42. Kaida D, et al. (2010) U1 snRNP protects pre-mRNAs from premature cleavage and polyadenylation. Nature 468(7324):664-668.
43. Berg MG, et al. (2012) U1 snRNP determines mRNA length and regulates isoform expression. Cell 150(1):53-64.
44. Rockenstein EM, et al. (1995) Levels and alternative splicing of amyloid β protein precursor (APP) transcripts in brains of APP transgenic mice and humans with Alzheimer's disease. J Biol Chem 270(47):28257-28267.
45. Mirra SS, et al. (1991) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 41(4):479-486.
46. Hyman BT, Trojanowski JQ (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer disease from the National Institute on Aging and the Reagan Institute Working Group on diagnostic criteria for the neuropathological assessment of Alzheimer disease. J Neuropathol Exp Neurol 56(10):1095-1097.
47. Petersen RC, et al. (1999) Mild cognitive impairment: Clinical characterization and outcome. Arch Neurol 56(3):303-308.
48. Ritchie K, Artero S, Touchon J (2001) Classification criteria for mild cognitive impairment: A population-based validation study. Neurology 56(1):37-42.
49. Gelb DJ, Oliver E, Gilman S (1999) Diagnostic criteria for Parkinson disease. Arch Neurol 56(1):33-39.
50. Trojanowski JQ, Dickson D (2001) Update on the neuropathological diagnosis of frontotemporal dementias. J Neuropathol Exp Neurol 60(12):1123-1126.
51. McKhann GM, et al.; Work Group on Frontotemporal Dementia and Pick's Disease (2001) Clinical and pathological diagnosis of frontotemporal dementia: Report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol 58(11): 1803-1809.
52. Ince PG, Lowe J, Shaw PJ (1998) Amyotrophic lateral sclerosis: Current issues in classification, pathogenesis and molecular pathology. Neuropathol Appl Neurobiol 24(2): 104-117.
53. Dickson DW, et al.; Office of Rare Diseases of the National Institutes of Health (2002) Office of Rare Diseases neuropathologic criteria for corticobasal degeneration. J Neuropathol Exp Neurol 61(11):935-946.
54. Dickson DW (2001) Neuropathology of Pick's disease. Neurology 56(11, Suppl 4): S16-S20.