Growth defects and impaired cognitivebehavioral abilities in mice with knockout for Eif4h, a gene located in the mouse homolog of the williams-beuren syndrome critical region

American Journal of Pathology

Volumn 180, Issue 3, 2012, Pages 1121-1135

  Capossela, Simona ^a   Muzio, Luca ^a   Bertolo, Alessandro ^a   Bianchi, Veronica ^b   Dati, Gabriele ^a   Chaabane, Linda ^a   Godi, Claudia ^a   Politi, Letterio S ^a   Biffo, Stefano ^a,c   D'Adamo, Patrizia ^b   Mallamaci, Antonello ^d   Pannese, Maria ^a  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b DULBECCO TELETHON INSTITUTE   (Italy)

^c UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^d SISSA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

INITIATION FACTOR; INITIATION FACTOR 4H; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASSOCIATIVE MEMORY; BEHAVIOR DISORDER; BRAIN CORTEX; BRAIN NERVE CELL; BRAIN REGION; BRAIN SIZE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CONDITIONING; CONTROLLED STUDY; EMBRYO; EMOTION; EXPLORATORY BEHAVIOR; FEAR; FEMALE; GENE EXPRESSION; GENE INACTIVATION; GENE LOCATION; GROWTH RETARDATION; HYPERACTIVITY; INFERTILITY; LEARNING DISORDER; MALE; MEMORY DISORDER; MOTOR COORDINATION; MOUSE; MUSCLE FATIGUE; NEUROANATOMY; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYSOME; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SPATIAL MEMORY; STATE DEPENDENT LEARNING; WEIGHT REDUCTION; WILLIAMS BEUREN SYNDROME;

ANIMALS; BRAIN; CONDITIONING (PSYCHOLOGY); EUKARYOTIC INITIATION FACTORS; EXPLORATORY BEHAVIOR; FEAR; FEMALE; GENE DELETION; GROWTH DISORDERS; HETEROZYGOTE; LEARNING DISORDERS; MALE; MEMORY DISORDERS; MICE; MICE, KNOCKOUT; MUSCLE FATIGUE; MUTAGENESIS, INSERTIONAL; ORGAN SIZE; PSYCHOMOTOR PERFORMANCE; RNA, MESSENGER; WILLIAMS SYNDROME;

EID: 84857197777     PISSN: 00029440     EISSN: 15252191     Source Type: Journal    
DOI: 10.1016/j.ajpath.2011.12.008     Document Type: Article

References (41)

1. A.C. Gingras, B. Raught, N. Sonenberg eIF4 initiation factors: effectors of mRNA recruitment to ribosomes and regulators of translation Annu Rev Biochem 68 1999 913 963
2. G. Hernandez, P. Vazquez-Pianzola Functional diversity of the eukaryotic translation initiation factors belonging to eIF4 families Mech Dev 122 2005 865 876
3. N. Sonenberg, A.G. Hinnebusch Regulation of translation initiation in eukaryotes: mechanisms and biological targets Cell 136 2009 731 745
4. N.J. Richter, G.W. Rogers Jr., J.O. Hensold, W.C. Merrick Further biochemical and kinetic characterization of human eukaryotic initiation factor 4H J Biol Chem 274 1999 35415 35424
5. G.W. Rogers Jr., N.J. Richter, W.F. Lima, W.C. Merrick Modulation of the helicase activity of eIF4A by eIF4B, eIF4H, and eIF4F J Biol Chem 276 2001 30914 30922
6. G.W. Rogers Jr, N.J. Richter, W.C. Merrick Biochemical and kinetic characterization of the RNA helicase activity of eukaryotic initiation factor 4A J Biol Chem 274 1999 12236 12244
7. M. Bayes, L.F. Magano, N. Rivera, R. Flores, L.A. Perez Jurado Mutational mechanisms of Williams-Beuren syndrome deletions Am J Hum Genet 73 2003 131 151
8. R. Peoples, Y. Franke, Y.K. Wang, L. Perez-Jurado, T. Paperna, M. Cisco, U. Francke A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndromedeletion region at 7q11.23 Am J Hum Genet 66 2000 47 68
9. U. Francke Williams-Beuren syndrome: genes and mechanisms Hum Mol Genet 8 1999 1947 1954
10. A. Meyer-Lindenberg, C.B. Mervis, K.F. Berman Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour Nat Rev Neurosci 7 2006 380 393
11. B.R. Pober Williams-Beuren syndrome N Engl J Med 362 2010 239 252
12. M. Tassabehji Williams-Beuren syndrome: a challenge for genotype-phenotype correlations Hum Mol Genet 12 Spec No 2 2003 R229 R237
13. P. Stromme, P.G. Bjornstad, K. Ramstad Prevalence estimation of Williams syndrome J Child Neurol 17 2002 269 271
14. U. DeSilva, L. Elnitski, J.R. Idol, J.L. Doyle, W. Gan, J.W. Thomas, S. Schwartz, N.L. Dietrich, S.M. Beckstrom-Sternberg, J.C. McDowell, R.W. Blakesley, G.G. Bouffard, P.J. Thomas, J.W. Touchman, W. Miller, E.D. Green Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome Genome Res 12 2002 3 15
15. L.R. Osborne Animal models of Williams syndrome Am J Med Genet C Semin Med Genet 154C 2010 209 219
16. A.K. Ewart, C.A. Morris, D. Atkinson, W. Jin, K. Sternes, P. Spallone, A.D. Stock, M. Leppert, M.T. Keating Hemizygosity at the elastin locus in a developmental disorder Williams syndrome Nat Genet 5 1993 11 16
17. F. Valtorta, R. Jahn, R. Fesce, P. Greengard, B. Ceccarelli Synaptophysin (p38) at the frog neuromuscular junction: its incorporation into the axolemma and recycling after intense quantal secretion J Cell Biol 107 1988 2717 2727
18. D. Centonze, L. Muzio, S. Rossi, F. Cavasinni, V. De Chiara, A. Bergami, A. Musella, M. D'Amelio, V. Cavallucci, A. Martorana, A. Bergamaschi, M.T. Cencioni, A. Diamantini, E. Butti, G. Comi, G. Bernardi, F. Cecconi, L. Battistini, R. Furlan, G. Martino Inflammation triggers synaptic alteration and degeneration in experimental autoimmune encephalomyelitis J Neurosci 29 2009 3442 3452
19. H.P. Lipp, D.P. Wolfer Genetically modified mice and cognition Curr Opin Neurobiol 8 1998 272 280
20. R.G. Morris, P. Garrud, J.N. Rawlins, J. O'Keefe Place navigation impaired in rats with hippocampal lesions Nature 297 1982 681 683
21. R. Morris Developments of a water-maze procedure for studying spatial learning in the rat J Neurosci Methods 11 1984 47 60
22. D.P. Wolfer, H.P. Lipp A new computer program for detailed off-line analysis of swimming navigation in the Morris water maze J Neurosci Methods 41 1992 65 74
23. G. Stefani, C.E. Fraser, J.C. Darnell, R.B. Darnell Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells J Neurosci 24 2004 7272 7276
24. W.C. Skarnes, J.E. Moss, S.M. Hurtley, R.S. Beddington Capturing genes encoding membrane and secreted proteins important for mouse development Proc Natl Acad Sci USA 92 1995 6592 6596
25. C.A. Morris, S.A. Demsey, C.O. Leonard, C. Dilts, B.L. Blackburn Natural history of Williams syndrome: physical characteristics J Pediatr 113 1988 318 326
26. R. Pankau, C.J. Partsch, A. Gosch, H.C. Oppermann, A. Wessel Statural growth in Williams-Beuren syndrome Eur J Pediatr 151 1992 751 755
27. A.L. Reiss, M.A. Eckert, F.E. Rose, A. Karchemskiy, S. Kesler, M. Chang, M.F. Reynolds, H. Kwon, A. Galaburda An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome J Neurosci 24 2004 5009 5015
28. A.L. Reiss, S. Eliez, J.E. Schmitt, E. Straus, Z. Lai, W. Jones, U. Bellugi IV. Neuroanatomy of Williams syndrome: a high-resolution MRI study J Cogn Neurosci 12 Suppl 1 2000 65 73
29. J.E. Schmitt, S. Eliez, U. Bellugi, A.L. Reiss Analysis of cerebral shape in Williams syndrome Arch Neurol 58 2001 283 287
30. A.P. Jackowski, K. Rando, C. Maria de Araujo, C.G. Del Cole, I. Silva, A.L. Tavares de Lacerda Brain abnormalities in Williams syndrome: a review of structural and functional magnetic resonance imaging findings Eur J Paediatr Neurol 13 2009 305 316
31. T.L. Jernigan, U. Bellugi, E. Sowell, S. Doherty, J.R. Hesselink Cerebral morphologic distinctions between Williams and Down syndromes Arch Neurol 50 1993 186 191
32. A. Meyer-Lindenberg, C.B. Mervis, D. Sarpal, P. Koch, S. Steele, P. Kohn, S. Marenco, C.A. Morris, S. Das, S. Kippenhan, V.S. Mattay, D.R. Weinberger, K.F. Berman Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome J Clin Invest 115 2005 1888 1895
33. C. Belzung Hippocampal mossy fibres: implication in novelty reactions or in anxiety behaviours? Behav Brain Res 51 1992 149 155
34. S.C. Dulawa, D.K. Grandy, M.J. Low, M.P. Paulus, M.A. Geyer Dopamine D4 receptor-knock-out mice exhibit reduced exploration of novel stimuli J Neurosci 19 1999 9550 9556
35. P. D'Adamo, D.P. Wolfer, C. Kopp, I. Tobler, D. Toniolo, H.P. Lipp Mice deficient for the synaptic vesicle protein Rab3a show impaired spatial reversal learning and increased explorative activity but none of the behavioral changes shown by mice deficient for the Rab3a regulator Gdi1 Eur J Neurosci 19 2004 1895 1905
36. J.D. Raybuck, K.M. Lattal Double dissociation of amygdala and hippocampal contributions to trace and delay fear conditioning PLoS One 6 2011 e15982
37. N.J. Richter-Cook, T.E. Dever, J.O. Hensold, W.C. Merrick Purification and characterization of a new eukaryotic protein translation factor Eukaryotic initiation factor 4H J Biol Chem 273 1998 7579 7587
38. U. Bellugi, L. Lichtenberger, W. Jones, Z. Lai, M. St George I. The neurocognitive profile of Williams Syndrome: a complex pattern of strengths and weaknesses J Cogn Neurosci 12 Suppl 1 2000 7 29
39. M. Costa-Mattioli, W.S. Sossin, E. Klann, N. Sonenberg Translational control of long-lasting synaptic plasticity and memory Neuron 61 2009 10 26
40. Sossin WS, Lacaille JC: Mechanisms of translational regulation in synaptic plasticity. Curr Opin Neurobiol 20:450456
41. R.J. Kelleher 3rd, M.F. Bear The autistic neuron: troubled translation? Cell 135 2008 401 406