Germline expression of H-RasG12V causes neurological deficits associated to Costello syndrome

Genes, Brain and Behavior

Volumn 8, Issue 1, 2009, Pages 60-71

  Viosca, J ^a   Schuhmacher, A J ^b   Guerra, C ^b   Barco, A ^a  

^a INSTITUTO DE NEUROCIENCIAS   (Spain)

^b Centro Nacional de Investigaciones Oncológicas   (Spain)

Author keywords

Anxiety; Costello syndrome; H Ras; Mental retardation; Mouse model

Indexed keywords

ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; COSTELLO SYNDROME; EMOTIONAL DISORDER; FEMALE; GENE EXPRESSION; HOMOZYGOSITY; MALE; MOUSE; NEUROLOGIC DISEASE; NONHUMAN; ONCOGENE H RAS; PHENOTYPE; PRIORITY JOURNAL;

ANIMALS; ANXIETY; BRAIN; COGNITION DISORDERS; FEAR; GENE DOSAGE; GENES, RAS; GERM-LINE MUTATION; HUMANS; MAZE LEARNING; MICE; MICE, MUTANT STRAINS; MOTOR ACTIVITY; NERVOUS SYSTEM DISEASES; ONCOGENES; PHENOTYPE; POINT MUTATION; POSTURAL BALANCE; REACTION TIME; STARTLE REACTION; SYNDROME;

MUS;

EID: 59149107178     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2008.00443.x     Document Type: Article

References (30)

1. Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., Filocamo, M., Kato, K., Suzuki, Y., Kure, S. Matsubara, Y 2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37, 1038 1040.
2. Aoki, Y., Niihori, T., Narumi, Y., Kure, S. Matsubara, Y 2008) The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29, 992 1006.
3. Axelrad, M.E., Glidden, R., Nicholson, L. Gripp, K.W 2004) Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome. Am J Med Genet A 128, 396 400.
4. Axelrad, M.E., Nicholson, L., Stabley, D.L., Sol-Church, K. Gripp, K.W 2007) Longitudinal assessment of cognitive characteristics in Costello syndrome. Am J Med Genet A 143A, 3185 3193.
5. Barco, A., Pittenger, C. Kandel, E.R 2003) CREB, memory enhancement and the treatment of memory disorders: promises, pitfalls and prospects. Expert Opin Ther Targets 7, 101 114.
6. Barco, A., Bailey, C.H. Kandel, E.R 2006) Common molecular mechanisms in explicit and implicit memory. J Neurochem 97, 1520 1533.
7. Bertola, D.R., Pereira, A.C., Brasil, A.S., Albano, L.M., Kim, C.A. Krieger, J.E 2007) Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. J Hum Genet 52, 521 526.
8. Bourtchouladze, R., Lidge, R., Catapano, R., Stanley, J., Gossweiler, S., Romashko, D., Scott, R. Tully, T 2003) A mouse model of Rubinstein-Taybi syndrome: Defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. Proc Natl Acad Sci USA 100, 10518 10522.
9. Costello, J.M 1971) A new syndrome. N Z Med J 74, 397.
10. Estep, A.L., Tidyman, W.E., Teitell, M.A., Cotter, P.D. Rauen, K.A 2006) HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. Am J Med Genet A 140, 8 16.
11. Galera, C., Delrue, M.A., Goizet, C., Etchegoyhen, K., Taupiac, E., Sigaudy, S., Arveiler, B., Philip, N., Bouvard, M. Lacombe, D 2006) Behavioral and temperamental features of children with Costello syndrome. Am J Med Genet A 140, 968 974.
12. Galsworthy, M.J., Amrein, I., Kuptsov, P.A., Poletaeva, I.I., Zinn, P., Rau, A., Vyssotski, A. Lipp, H.P 2005) A comparison of wild-caught wood mice and bank voles in the Intellicage: assessing exploration, daily activity patterns and place learning paradigms. Behav Brain Res 157, 211 217.
13. Gripp, K.W., Lin, A.E., Stabley, D.L., Nicholson, L., Scott, C.I., Jr., Doyle, D., Aoki, Y., Matsubara, Y., Zackai, E.H., Lapunzina, P., Gonzalez-Meneses, A., Holbrook, J., Agresta, C.A., Gonzalez, I.L. Sol-Church, K 2006) HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. Am J Med Genet A 140, 1 7.
14. Hennekam, R.C 2003) Costello syndrome: an overview. Am J Med Genet 117, 42 48.
15. Irwin, S 1968) Comprehensive observational assessment: Ia. A systematic, quantitative procedure for assessing the behavioral and physiologic state of the mouse. Psychopharmacologia 13, 222 257.
16. Kawame, H., Matsui, M., Kurosawa, K., Matsuo, M., Masuno, M., Ohashi, H., Fueki, N., Aoyama, K., Miyatsuka, Y., Suzuki, K., Akatsuka, A., Ochiai, Y. Fukushima, Y 2003) Further delineation of the behavioral and neurologic features in Costello syndrome. Am J Med Genet A 118, 8 14.
17. Kerr, B., Delrue, M.A., Sigaudy, S., et al 2006) Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 43, 401 405.
18. Kushner, S.A., Elgersma, Y., Murphy, G.G., Jaarsma, D., van Woerden, G.M., Hojjati, M.R., Cui, Y., LeBoutillier, J.C., Marrone, D.F., Choi, E.S., De Zeeuw, C.I., Petit, T.L., Pozzo-Miller, L. Silva, A.J 2005) Modulation of presynaptic plasticity and learning by the H-ras/extracellular signal-regulated kinase/synapsin I signaling pathway. J Neurosci 25, 9721 9734.
19. Lonze, B.E. Ginty, D.D 2002) Function and regulation of CREB family transcription factors in the nervous system. Neuron 35, 605 623.
20. Lopez de Armentia, M., Jancic, D., Olivares, R., Alarcon, J.M., Kandel, E.R. Barco, A 2007) cAMP response element-binding protein-mediated gene expression increases the intrinsic excitability of CA1 pyramidal neurons. J Neurosci 27, 13909 13918.
21. Malleret, G., Hen, R., Guillou, J.L., Segu, L. Buhot, M.C 1999) 5-HT1B receptor knock-out mice exhibit increased exploratory activity and enhanced spatial memory performance in the Morris water maze. J Neurosci 19, 6157 6168.
22. Rauen, K.A., Hefner, E., Carrillo, K., et al 2008) Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007. Am J Med Genet A 146A, 1205 1217.
23. Richter, J.E. Bradley, L.C 1996) Psychophysiological interactions in esophageal diseases. Semin Gastrointest Dis 7, 169 184.
24. Rogers, D.C., Fisher, E.M., Brown, S.D., Peters, J., Hunter, A.J. Martin, J.E 1997) Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm Genome 8, 711 713.
25. Schubbert, S., Bollag, G. Shannon, K 2007a) Deregulated Ras signaling in developmental disorders: new tricks for an old dog. Curr Opin Genet Dev 17, 15 22.
26. Schubbert, S., Shannon, K. Bollag, G 2007b) Hyperactive Ras in developmental disorders and cancer. Nat Rev 7, 295 308.
27. Schuhmacher, A.J., Guerra, C., Sauzeau, V., Canamero, M., Bustelo, X.R. Barbacid, M 2008) A mouse model for Costello syndrome reveals an Ang II-mediated hypertensive condition. J Clin Invest 118, 2169 2179.
28. Takeda, A., Itoh, H., Yamada, K., Tamano, H. Oku, N 2008) Enhancement of hippocampal mossy fiber activity in zinc deficiency and its influence on behavior. Biometals 21, 545 552.
29. Thomas, G.M. Huganir, R.L 2004) MAPK cascade signalling and synaptic plasticity. Nat Rev Neurosci 5, 173 183.
30. Zenker, M., Lehmann, K., Schulz, A.L., Barth, H., Hansmann, D., Koenig, R., Korinthenberg, R., Kreiss-Nachtsheim, M., Meinecke, P., Morlot, S., Mundlos, S., Quante, A.S., Raskin, S., Schnabel, D., Wehner, L.E., Kratz, C.P., Horn, D. Kutsche, K 2007) Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 44, 131 135.