MeCP2 R168X male and female mutant mice exhibit Rett-like behavioral deficits

Genes, Brain and Behavior

Volumn 12, Issue 7, 2013, Pages 732-740

  Schaevitz, L R ^a   Gomez N B ^a   Zhen, D P ^a   Berger Sweeney, J E ^a  

^a TUFTS UNIVERSITY   (United States)

Author keywords

Anxiety; Cognitive; Fear conditioning; Locomotor; Mecp2; Novel object recognition; R168X; Rotarod; Seizure; Zero maze

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ANIMAL EXPERIMENT; ANIMAL MODEL; APTITUDE TEST; ARTICLE; BODY WEIGHT; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; GRIP STRENGTH; LOCOMOTION; LONG TERM MEMORY; MALE; MOTOR COORDINATION; MOTOR DYSFUNCTION; MOUSE; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PHYSICAL DEVELOPMENT; POINT MUTATION; PRIORITY JOURNAL; RETT SYNDROME; SEIZURE; SEX DIFFERENCE; SHORT TERM MEMORY;

MUS; MUS MUSCULUS;

ANXIETY; COGNITIVE; FEAR CONDITIONING; LOCOMOTOR; MECP2; NOVEL OBJECT RECOGNITION; R168X; ROTAROD; SEIZURE; ZERO MAZE;

ANIMALS; COGNITION; FEMALE; LEARNING; LOCOMOTION; MALE; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, INBRED C57BL; MUTATION; PHENOTYPE; RETT SYNDROME; SEX FACTORS;

EID: 84884980237     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/gbb.12070     Document Type: Article

References (41)

1. Abdala, A.P., Dutschmann, M., Bissonnette, J.M. & Paton, J.F. (2010) Correction of respiratory disorders in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 107, 18208-18213.
2. Albasser, M.M., Olarte-Sanchez, C.M., Amin, E., Horne, M.R., Newton, M.J., Warburton, E.C. & Aggleton, J.P. (2013) The neural basis of nonvisual object recognition memory in the rat. Behav Neurosci 127, 70-85.
3. Alvarez-Saavedra, M., Saez, M.A., Kang, D., Zoghbi, H.Y. & Young, J.I. (2007) Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum Mol Genet 16, 2315-2325.
4. Baker, S.A., Chen, L., Wilkins, A.D., Yu, P., Lichtarge, O. & Zoghbi, H.Y. (2013) An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell 152, 984-996.
5. Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., Smeets, E. & Leonard, H. (2010) Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 47, 242-248.
6. Bebbington, A., Downs, J., Percy, A., Pineda, M., Zeev, B.B., Bahi-Buisson, N. & Leonard, H. (2012) The phenotype associated with a large deletion on MECP2. Eur J Hum Genet 20, 921-927.
7. Berger-Sweeney, J. (2011) Cognitive deficits in Rett syndrome: what we know and what we need to know to treat them. Neurobiol Learn Mem 96, 637-646.
8. Bienvenu, T. & Chelly, J. (2006) Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet 7, 415-426.
9. Chen, R.Z., Akbarian, S., Tudor, M. & Jaenisch, R. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27, 327-331.
10. Christodoulou, J., Grimm, A., Maher, T. & Bennetts, B. (2003) RettBASE: the IRSA MECP2 variation database-a new mutation database in evolution. Hum Mutat 21, 466-472.
11. De Filippis, B., Ricceri, L. & Laviola, G. (2010) Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. Genes Brain Behav 9, 213-223.
12. Glaze, D.G., Percy, A.K., Skinner, S., Motil, K.J., Neul, J.L., Barrish, J.O., Lane, J.B., Geerts, S.P., Annese, F., Graham, J., McNair, L. & Lee, H.S. (2010) Epilepsy and the natural history of Rett syndrome. Neurology 74, 909-912.
13. Guy, J., Hendrich, B., Holmes, M., Martin, J.E. & Bird, A. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet 27, 322-326.
14. Katz, D.M., Berger-Sweeney, J.E., Eubanks, J.H., Justice, M.J., Neul, J.L., Pozzo-Miller, L., Blue, M.E., Christian, D., Crawley, J.N., Giustetto, M., Guy, J., Howell, C.J., Kron, M., Nelson, S.B., Samaco, R.C., Schaevitz, L.R., St Hillaire-Clarke, C., Young, J.L., Zoghbi, H.Y. & Mamounas, L.A. (2012) Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech 5, 733-745.
15. Kaufmann, W.E., Tierney, E., Rohde, C.A., Suarez-Pedraza, M.C., Clarke, M.A., Salorio, C.F., Bibat, G., Bukelis, I., Naram, D., Lanham, D.C. & Naidu, S. (2012) Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J Intellect Disabil Res 56, 233-247.
16. Kerr, A.M., Nomura, Y., Armstrong, D. et al. (2001) Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev 23, 208-211.
17. Kerr, B., Soto, C.J., Saez, M., Abrams, A., Walz, K. & Young, J.I. (2012) Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes. Eur J Hum Genet 20, 69-76.
18. Lawson-Yuen, A., Liu, D., Han, L., Jiang, Z.I., Tsai, G.E., Basu, A.C., Picker, J., Feng, J. & Coyle, J.T. (2007) Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res 1180, 1-6.
19. Lonetti, G., Angelucci, A., Morando, L., Boggio, E.M., Giustetto, M. & Pizzorusso, T. (2010) Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry 67, 657-665.
20. Maren, S. & Quirk, G.J. (2004) Neuronal signalling of fear memory. Nat Rev Neurosci 5, 844-852.
21. McGraw, C.M., Samaco, R.C. & Zoghbi, H.Y. (2011) Adult neural function requires MeCP2. Science 333, 186.
22. Moretti, P., Levenson, J.M., Battaglia, F., Atkinson, R., Teague, R., Antalffy, B., Armstrong, D., Arancio, O., Sweatt, J.D. & Zoghbi, H.Y. (2006) Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci 26, 319-327.
23. Mount, R.H., Hastings, R.P., Reilly, S., Cass, H. & Charman, T. (2002) Behaviour problems in adult women with Rett syndrome. J Intellect Disabil Res 46, 619-624.
24. Nag, N. & Berger-Sweeney, J.E. (2007) Postnatal dietary choline supplementation alters behavior in a mouse model of Rett syndrome. Neurobiol Dis 26, 473-480.
25. Nan, X., Hou, J., Maclean, A., Nasir, J., Lafuente, M.J., Shu, X., Kriaucionis, S. & Bird, A. (2007) Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation. Proc Natl Acad Sci U S A 104, 2709-2714.
26. Neul, J.L., Fang, P., Barrish, J., Lane, J., Caeg, E.B., Smith, E.O., Zoghbi, H., Percy, A. & Glaze, D.G. (2008) Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70, 1313-1321.
27. Neul, J.L., Kaufmann, W.E., Glaze, D.G., Christodoulou, J., Clarke, A.J., Bahi-Buisson, N., Leonard, H., Bailey, M.E., Schanen, N.C., Zappella, M., Renieri, A., Huppke, P. & Percy, A.K. (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68, 944-950.
28. Pelka, G.J., Watson, C.M., Radziewic, T., Hayward, M., Lahooti, H., Christodoulou, J. & Tam, P.P. (2006) Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain 129, 887-898.
29. Pratte, M., Panayotis, N., Ghata, A., Villard, L. & Roux, J.C. (2011) Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice. Behav Brain Res 216, 313-320.
30. Renieri, A., Mari, F., Mencarelli, M.A., Scala, E., Ariani, F., Longo, I., Meloni, I., Cevenini, G., Pini, G., Hayek, G. & Zappella, M. (2009) Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant). Brain Dev 31, 208-216.
31. Rose, S.A., Djukic, A., Jankowski, J.J., Feldman, J.F., Fishman, I. & Valicenti-McDermott, M. (2013) Rett syndrome: an eye-tracking study of attention and recognition memory. Dev Med Child Neurol 55, 364-371.
32. Samaco, R.C., McGraw, C.M., Ward, C.S., Sun, Y., Neul, J.L. & Zoghbi, H.Y. (2013) Female Mecp2+/- mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies. Hum Mol Genet 22, 96-109.
33. Schaevitz, L.R., Moriuchi, J.M., Nag, N., Mellot, T.J. & Berger-Sweeney, J. (2010) Cognitive and social functions and growth factors in a mouse model of Rett syndrome. Physiol Behav 100, 255-263.
34. Schaevitz, L.R., Nicolai, R., Lopez, C.M., D'Iddio, S., Iannoni, E. & Berger-Sweeney, J.E. (2012) Acetyl-L-carnitine improves behavior and dendritic morphology in a mouse model of Rett syndrome. PLoS One 7, e51586.
35. Schmid, D.A., Yang, T., Ogier, M., Adams, I., Mirakhur, Y., Wang, Q., Massa, S.M., Longo, F.M. & Katz, D.M. (2012) A TrkB small molecule partial agonist rescues TrkB phosphorylation deficits and improves respiratory function in a mouse model of Rett syndrome. J Neurosci 32, 1803-1810.
36. Shahbazian, M., Young, J., Yuva-Paylor, L., Spencer, C., Antalffy, B., Noebels, J., Armstrong, D., Paylor, R. & Zoghbi, H. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35, 243-254.
37. Stancheva, I., Collins, A.L., Van den Veyver, I.B., Zoghbi, H. & Meehan, R.R. (2003) A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell 12, 425-435.
38. Stearns, N.A., Schaevitz, L.R., Bowling, H., Nag, N., Berger, U.V. & Berger-Sweeney, J. (2007) Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience 146, 907-921.
39. Tarquinio, D.C., Motil, K.J., Hou, W., Lee, H.S., Glaze, D.G., Skinner, S.A., Neul, J.L., Annese, F., McNair, L., Barrish, J.O., Geerts, S.P., Lane, J.B. & Percy, A.K. (2012) Growth failure and outcome in Rett syndrome: specific growth references. Neurology 79, 1653-1661.
40. Van den Veyver, I.B. & Zoghbi, H.Y. (2001) Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev 23 (Suppl. 1), S147-S151.
41. Velloso Rde, L., de Araujo, C.A. & Schwartzman, J.S. (2009) Concepts of color, shape, size and position in ten children with Rett syndrome. Arq Neuropsiquiatr 67, 50-54.