Engineering DYRK1A overdosage yields Down syndrome-characteristic cortical splicing aberrations

Neurobiology of Disease - Tập 40 - Trang 348-359 - 2010
Debra Toiber1, Garikoitz Azkona2,3,4, Shani Ben-Ari1, Nuria Torán5, Hermona Soreq1, Mara Dierssen2,3
1Department of Biological Chemistry and Interdisciplinary Center for Neuronal Computation (ICNC), The Hebrew University of Jerusalem, Jerusalem 91904, Israel
2Genes and Disease Program, Centre for Genomic Regulation (CRG), Barcelona Biomedical Research Park (PRBB), E-08003 Barcelona, Catalonia, Spain
3CIBER de Enfermedades Raras (CIBERER), E-08003 Barcelona, Catalonia, Spain
4Department of Neuroscience, University of Basque Country (UPV/EHU), E-48003, Bizkaia, Spain
5Section of Pediatric Pathology, Anatomo-Pathology Service, Hospital Universitari Vall d'Hebron, Barcelona, Catalonia, Spain

Tài liệu tham khảo

Ahlbom, 1996, Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype, Am. J. Med. Genet., 63, 566, 10.1002/(SICI)1096-8628(19960628)63:4<566::AID-AJMG10>3.0.CO;2-G

Altafaj, 2001, Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome, Hum. Mol. Genet., 10, 1915, 10.1093/hmg/10.18.1915

Alvarez, 2003, DYRK1A accumulates in splicing speckles through a novel targeting signal and induces speckle disassembly, J. Cell Sci., 116, 3099, 10.1242/jcs.00618

Antonarakis, 2006, The challenge of Down syndrome, Trends Mol. Med., 12, 473, 10.1016/j.molmed.2006.08.005

Antonarakis, 2004, Chromosome 21 and Down syndrome: from genomics to pathophysiology, Nat. Rev. Genet., 5, 725, 10.1038/nrg1448

Arron, 2006, NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21, Nature, 441, 595, 10.1038/nature04678

Atz, 2007, NCAM1 association study of bipolar disorder and schizophrenia: polymorphisms and alternatively spliced isoforms lead to similarities and differences, Psychiatr. Genet., 17, 55, 10.1097/YPG.0b013e328012d850

Becker, 1998, Sequence characteristics, subcellular localization, and substrate specificity of DYRK-related kinases, a novel family of dual specificity protein kinases, J. Biol. Chem., 273, 25893, 10.1074/jbc.273.40.25893

Ben-Ari, 2006, Modulated splicing-associated gene expression in P19 cells expressing distinct acetylcholinesterase splice variants, J. Neurochem., 97, 24, 10.1111/j.1471-4159.2006.03725.x

Bimonte-Nelson, 2003, Frontal cortex BDNF levels correlate with working memory in an animal model of Down syndrome, Behav. Brain Res., 139, 47, 10.1016/S0166-4328(02)00082-7

Boucard, 2005, A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins, Neuron, 48, 229, 10.1016/j.neuron.2005.08.026

Brooksbank, 1989, Neuronal maturation in the foetal brain in Down's syndrome, Early Hum. Dev., 18, 237, 10.1016/0378-3782(89)90019-4

Daoud, 2009, Autism and nonsyndromic mental retardation associated with a de novo mutation in the NLGN4X gene promoter causing an increased expression level, Biol. Psychiatry, 66, 904, 10.1016/j.biopsych.2009.05.008

Darreh-Shori, 2004, Long-lasting acetylcholinesterase splice variations in anticholinesterase-treated Alzheimer's disease patients, J. Neurochem., 88, 1102, 10.1046/j.1471-4159.2003.02230.x

de Graaf, 2004, Characterization of cyclin L2, a novel cyclin with an arginine/serine-rich domain: phosphorylation by DYRK1A and colocalization with splicing factors, J. Biol. Chem., 279, 4612, 10.1074/jbc.M310794200

de Graaf, 2006, The protein kinase DYRK1A phosphorylates the splicing factor SF3b1/SAP155 at Thr434, a novel in vivo phosphorylation site, BMC Biochem., 7, 7, 10.1186/1471-2091-7-7

Dean, 2006, Neuroligins and neurexins: linking cell adhesion, synapse formation and cognitive function, Trends Neurosci., 29, 21, 10.1016/j.tins.2005.11.003

Deutsch, 2005, Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes, Hum. Mol. Genet., 14, 3741, 10.1093/hmg/ddi404

Diamant, 2006, Butyrylcholinesterase attenuates amyloid fibril formation in vitro, Proc. Natl. Acad. Sci. USA, 103, 8628, 10.1073/pnas.0602922103

Dierssen, 2006, DYRK1A (dual-specificity tyrosine-phosphorylated and -regulated kinase 1A): a gene with dosage effect during development and neurogenesis, Scientific World J., 6, 1911, 10.1100/tsw.2006.319

Dierssen, 2006, Dendritic pathology in mental retardation: from molecular genetics to neurobiology, Genes Brain Behav., 5, 48, 10.1111/j.1601-183X.2006.00224.x

Dierssen, 2009, Aneuploidy: from a physiological mechanism of variance to Down syndrome, Physiol. Rev., 89, 887, 10.1152/physrev.00032.2007

Dorsey, 2002, Failure of brain-derived neurotrophic factor-dependent neuron survival in mouse trisomy 16, J. Neurosci., 22, 2571, 10.1523/JNEUROSCI.22-07-02571.2002

Ellman, 1961, A new and rapid colorimetric determination of acetylcholinesterase activity, Biochem. Pharmacol., 7, 88, 10.1016/0006-2952(61)90145-9

Engidawork, 2001, Protein expression in Down syndrome brain, Amino Acids, 21, 331, 10.1007/s007260170001

Epstein, 1986, Developmental genetics, Experientia, 42, 1117, 10.1007/BF01941286

Fernandez, 2007, Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome, Nat. Neurosci., 10, 411, 10.1038/nn1860

Ferrando-Miguel, 2004, Protein levels of genes encoded on chromosome 21 in fetal Down syndrome brain (Part V): overexpression of phosphatidyl-inositol-glycan class P protein (DSCR5), Amino Acids, 26, 255, 10.1007/s00726-004-0065-9

Ferrer, 2005, Constitutive Dyrk1A is abnormally expressed in Alzheimer disease, Down syndrome, Pick disease, and related transgenic models, Neurobiol. Dis., 20, 392, 10.1016/j.nbd.2005.03.020

Fotaki, 2002, Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice, Mol. Cell. Biol., 22, 6636, 10.1128/MCB.22.18.6636-6647.2002

Galdzicki, 2001, On the cause of mental retardation in Down syndrome: extrapolation from full and segmental trisomy 16 mouse models, Brain Res. Brain Res. Rev., 35, 115, 10.1016/S0926-6410(00)00074-4

Guedj, 2009, Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A, PLoS ONE, 4, e4606, 10.1371/journal.pone.0004606

Guimera, 1996, A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region, Hum. Mol. Genet., 5, 1305, 10.1093/hmg/5.9.1305

Guimera, 1999, Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome, Genomics, 57, 407, 10.1006/geno.1999.5775

Gwack, 2006, A genome-wide Drosophila RNAi screen identifies DYRK-family kinases as regulators of NFAT, Nature, 441, 646, 10.1038/nature04631

Hanamura, 1998, Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors, RNA, 4, 430

Holtzman, 1996, Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome, Proc. Natl. Acad. Sci. USA, 93, 13333, 10.1073/pnas.93.23.13333

Kim, 2008, Insights into the connection between cancer and alternative splicing, Trends Genet., 24, 7, 10.1016/j.tig.2007.10.001

Kish, 1989, Down's syndrome individuals begin life with normal levels of brain cholinergic markers, J. Neurochem., 52, 1183, 10.1111/j.1471-4159.1989.tb01864.x

Kishnani, 1999, Cholinergic therapy for Down's syndrome, Lancet, 353, 1064, 10.1016/S0140-6736(98)05285-4

Kornblihtt, 2005, Promoter usage and alternative splicing, Curr. Opin. Cell Biol., 17, 262, 10.1016/j.ceb.2005.04.014

Kurt, 2000, Synaptic deficit in the temporal cortex of partial trisomy 16 (Ts65Dn) mice, Brain Res., 858, 191, 10.1016/S0006-8993(00)01984-3

Lamond, 2003, Nuclear speckles: a model for nuclear organelles, Nat. Rev. Mol. Cell. Biol., 4, 605, 10.1038/nrm1172

Levinson, 2005, Building excitatory and inhibitory synapses: balancing neuroligin partnerships, Neuron, 48, 171, 10.1016/j.neuron.2005.09.017

Li, 2007, Neuronal regulation of alternative pre-mRNA splicing, Nat. Rev. Neurosci., 8, 819, 10.1038/nrn2237

Licatalosi, 2006, Splicing regulation in neurologic disease, Neuron, 52, 93, 10.1016/j.neuron.2006.09.017

Liu, 2008, Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome, FASEB J., 22, 3224, 10.1096/fj.07-104539

Martinez de Lagran, 2004, Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction, Neurobiol. Dis., 15, 132, 10.1016/j.nbd.2003.10.002

Matsunaga, 1993, Expression of alternatively spliced src messenger RNAs related to neuronal differentiation in human neuroblastomas, Cancer Res., 53, 3179

Melcak, 2000, Nuclear pre-mRNA compartmentalization: trafficking of released transcripts to splicing factor reservoirs, Mol. Biol. Cell, 11, 497, 10.1091/mbc.11.2.497

Meshorer, 2006, Virtues and woes of AChE alternative splicing in stress-related neuropathologies, Trends Neurosci., 29, 216, 10.1016/j.tins.2006.02.005

Meshorer, 2002, Alternative splicing and neuritic mRNA translocation under long-term neuronal hypersensitivity, Science, 295, 508, 10.1126/science.1066752

Meshorer, 2005, SC35 promotes sustainable stress-induced alternative splicing of neuronal acetylcholinesterase mRNA, Mol. Psychiatry, 10, 985, 10.1038/sj.mp.4001735

Muller, 2009, Different postischemic protein expression of the GABA(A) receptor alpha2 subunit and the plasticity-associated protein MAP1B after treatment with BDNF versus G-CSF in the rat brain, Restor. Neurol. Neurosci., 27, 27

Ortiz-Abalia, 2008, Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndrome, Am. J. Hum. Genet., 83, 479, 10.1016/j.ajhg.2008.09.010

Rose, 2003, Truncated TrkB-T1 mediates neurotrophin-evoked calcium signalling in glia cells, Nature, 426, 74, 10.1038/nature01983

Shi, 2008, Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of Tau in Down syndrome, J. Biol. Chem., 283, 28660, 10.1074/jbc.M802645200

Sitz, 2004, Dyrk1A potentiates steroid hormone-induced transcription via the chromatin remodeling factor Arip4, Mol. Cell. Biol., 24, 5821, 10.1128/MCB.24.13.5821-5834.2004

Soreq, 2008, Advanced microarray analysis highlights modified neuro-immune signaling in nucleated blood cells from Parkinson's disease patients, J. Neuroimmunol., 201–202, 227, 10.1016/j.jneuroim.2008.06.019

Stamm, 2008, Regulation of alternative splicing by reversible protein phosphorylation, J. Biol. Chem., 283, 1223, 10.1074/jbc.R700034200

Stamm, 2005, Function of alternative splicing, Gene, 344, 1, 10.1016/j.gene.2004.10.022

Talebizadeh, 2006, Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism, J. Med. Genet., 43, e21, 10.1136/jmg.2005.036897

Toiber, 2008, N-acetylcholinesterase-induced apoptosis in Alzheimer's disease, PLoS ONE, 3, e3108, 10.1371/journal.pone.0003108

Ule, 2005, Nova regulates brain-specific splicing to shape the synapse, Nat. Genet., 37, 844, 10.1038/ng1610

Wang, 2007, Splicing in disease: disruption of the splicing code and the decoding machinery, Nat. Rev. Genet., 8, 749, 10.1038/nrg2164

Wisniewski, 1990, Down syndrome children often have brain with maturation delay, retardation of growth, and cortical dysgenesis, Am. J. Med. Genet. Suppl., 7, 274

Yamada, 2003, Brain-derived neurotrophic factor/TrkB signaling in memory processes, J. Pharmacol. Sci., 91, 267, 10.1254/jphs.91.267

Yamada, 2004, Interaction of BDNF/TrkB signaling with NMDA receptor in learning and memory, Drug News Perspect., 17, 435, 10.1358/dnp.2004.17.7.863702

Yang, 2001, Protein kinase Dyrk1 activates cAMP response element-binding protein during neuronal differentiation in hippocampal progenitor cells, J. Biol. Chem., 276, 39819, 10.1074/jbc.M104091200

Zwaan, 2008, Acute leukemias in children with Down syndrome, Pediatr. Clin. N. Am., 55, 53, 10.1016/j.pcl.2007.11.001

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Neurobiology of Disease

Tập 40

348-359

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