Analysis of cerebellar function in Ube3a -deficient mice reveals novel genotype-specific behaviors

Human Molecular Genetics

Volumn 17, Issue 14, 2008, Pages 2181-2189

  Heck, Detlef H ^b   Zhao, Yu ^a   Roy, Snigdha ^b   Ledoux, Mark S ^a   Reiter, Lawrence T ^a  

^a Department of Neurology ^*  (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN PROTEIN LIGASE E3;

ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATAXIA; BRAIN FUNCTION; BRAIN REGION; CEREBELLUM; CLIMBING; CONTROLLED STUDY; DYSARTHRIA; DYSPHAGIA; ENZYME DEFICIENCY; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FLUID INTAKE; GAIT; GENE EXPRESSION; GENOTYPE; GRIP STRENGTH; HAPPY PUPPET SYNDROME; HIPPOCAMPUS; HYPERSALIVATION; LANGUAGE DISABILITY; LEARNING DISORDER; LICKING; MALE; MEMORY DISORDER; MOTOR DYSFUNCTION; MOUSE; NEUROLOGIC EXAMINATION; NONHUMAN; PRIORITY JOURNAL; TASK PERFORMANCE; TREMOR;

ANGELMAN SYNDROME; ANIMALS; BEHAVIOR, ANIMAL; CEREBELLUM; DISEASE MODELS, ANIMAL; GENOTYPE; HUMANS; INHERITANCE PATTERNS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MOTOR ACTIVITY; SPECIES SPECIFICITY; UBIQUITIN-PROTEIN LIGASES;

MUS;

EID: 46249111350     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn117     Document Type: Article

References (36)

1. Matsuura, T., Sutcliffe, J.S., Fang, P., Galjaard, R.J., Jiang, Y.H., Benton, C.S., Rommens, J.M. and Beaudet, A.L. (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat. Genet., 15, 74-77.
2. Kishino, T., Lalande, M. and Wagstaff, J. (1997) UBE3A/E6-AP mutations cause Angelman syndrome [Erratum (1997) Nat. Genet., 15, 411.]. Nat. Genet., 15, 70-73.
3. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G. and Beaudet, A.L. (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat. Genet., 17, 75-78.
4. Dindot, S.V., Antalffy, B.A., Bhattacharjee, M.B. and Beaudet, A.L. (2007) The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum. Mol. Genet., 17, 111-118.
5. Rougeulle, C., Glatt, H. and Lalande, M. (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain [letter]. Nat. Genet., 17, 14-15.
6. Jiang, Y.H., Bressler, J. and Beaudet, A.L. (2004) Epigenetics and human disease. Annu. Rev. Genomics Hum. Genet., 5, 479-510.
7. Lalande, M. and Calciano, M.A. (2007) Molecular epigenetics of Angelman syndrome. Cell Mol. Life Sci., 64, 947-960.
8. Dan, B. and Cheron, G. (2004) Postural rhythmic muscle bursting activity in Angelman syndrome. Brain Dev., 26, 389-393.
9. Haines, D.E., Dietrichs, E., Mihailoff, G.A. and McDonald, E.F. (1997) The cerebellar-hypothalamic axis: Basic circuits and clinical observations. Int. Rev. Neurobiol., 41, 83-107.
10. Parsons, L.M., Denton, D., Egan, G., McKinley, M., Shade, R., Lancaster, J. and Fox, P.T. (2000) Neuroimaging evidence implicating cerebellum in support of sensory/cognitive processes associated with thirst. Proc. Natl Acad. Sci. USA, 97, 2332-2336.
11. Schmahmann, J.D. and Sherman, J.C. (1997) Cerebellar cognitive affective syndrome. Int. Rev. Neurobiol., 41, 433-440.
12. Jiang, Y.H., Armstrong, D., Albrecht, U., Atkins, C.M., Noebels, J.L., Eichele, G., Sweatt, J.D. and Beaudet, A.L. (1998) Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21, 799-811.
13. Miura, K., Kishino, T., Li, E., Webber, H., Dikkes, P., Holmes, G.L. and Wagstaff, J. (2002) Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol. Dis., 9, 149-159.
14. Cheron, G., Servais, L., Wagstaff, J. and Dan, B. (2005) Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. Neuroscience, 130, 631-637.
15. van Woerden, G.M., Harris, K.D., Hojjati, M.R., Gustin, R.M., Qiu, S., de Avila Freire, R., Jiang, Y.H., Elgersma, Y. and Weeber, E.J. (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat. Neurosci., 10, 280-282.
16. Hayar, A., Bryant, J.L., Boughter, J.D. and Heck, D.H. (2006) A low-cost solution to measure mouse licking in an electrophysiological setup with a standard analog-to-digital converter. J. Neurosci. Methods, 153, 203-207.
17. Travers, J.B., Dinardo, L.A. and Karimnamazi, H. (1997) Motor and premotor mechanisms of licking. Neurosci. Biobehav. Rev., 21 631-647.
18. Boughter, J.D., Jr, Baird, J.P., Bryant, J., St John, S.J. and Heck, D. (2007) C57BL/6J and DBA/2J mice vary in lick rate and ingestive microstructure. Genes Brain Behav., 6, 619-627.
19. Horowitz, G.P., Stephan, F.K., Smith, J.C. and Whitney, G. (1977) Genetic and environmental variability in lick rates of mice. Physiol. Behav., 19, 493-496.
20. Welsh, J.P., Lang, E.J., Suglhara, I. and Llinas, R. (1995) Dynamic organization of motor control within the olivocerebellar system. Nature, 374, 453-457.
21. Uchida, K., Yamada, Y. and Sato, T. (1994) The coordination of rhythmical drinking behavior with swallowing in rabbits. Physiol. Behav., 55, 795-801.
22. Weijnen, J.A., Wouters, J. and van Hest, J.M. (1984) Interaction between licking and swallowing in the drinking rat. Brain Behav. Evol., 25, 117-127.
23. Welzl, H. and Bures, J. (1977) Lick-synchronized breathing in rats. Physiol. Behav., 18, 751-753.
24. Ramio-Torrentia, L., Gomez, E. and Genis, D. (2006) Swallowing in degenerative ataxias. J. Neurol., 253, 875-881.
25. Varela, M.C., Kok, F., Otto, P.A. and Koiffmann, C.P. (2004) Phenotypic variability in Angelman syndrome: Comparison among different deletion classes and between deletion and UPD subjects. Eur. J. Hum. Genet. 12, 987-992.
26. Suzuki, M., Asada, Y., Ito, J., Hayashi, K., Inoue, H. and Kitano, H. (2003) Activation of cerebellum and basal ganglia on volitional swallowing detected by functional magnetic resonance imaging. Dysphagia, 18, 71-77.
27. Chen, M.L., Witmans, M.B., Tablizo, M.A., Jubran, R.F., Turkel, S.B., Tavare, C.J. and Keens, T.G. (2005) Disordered respiratory control in children with partial cerebellar resections. Pediatr. Pulmonol., 40, 88-91.
28. Harper, R.M., Gozal, D., Bandler, R., Spriggs, D., Lee, J. and Alger, J. (1998) Regional brain activation in humans during respiratory and blood pressure challenges. Clin. Exp. Pharmacol. Physiol., 25, 483-486.
29. Egan, G., Silk, T., Zamarripa, F., Williams, J., Federico, P., Cunnington, R., Carabott, L., Blair-West, J., Shade, R., McKinley, M. et al. (2003) Neural correlates of the emergence of consciousness of thirst. Proc. Natl Acad. Sci. USA, 100, 15241-15246.
30. Crawley, J. (1999) Behavioral phenotyping of transgenic and knockout mice: Experimental design and evaluation of general health, sensory functions, motor abilities, and specific behavioral tests. Brain Res. 835, 18-26.
31. Mahler, P., Guastavino, J.M., Jacquart, G. and Strazielle, C. (1993) An unexpected role of the cerebellum: Involvement in nutritional organization. Physiol. Behav., 54, 1063-1067.
32. Scalera, G. (1991) Effects of corticocerebellar lesions on taste preferences, body weight gain, food and fluid intake in the rat. J. Physiol. (Paris), 85, 214-222.
33. Zhu, J.N., Li, H.Z., Ding, Y. and Wang, J.J. (2006) Cerebellar modulation of feeding-related neurons in rat dorsomedial hypothalamic nucleus. J. Neurosci. Res., 84, 1597-1609.
34. Reiter, L.T., Seagroves, T.N., Bowers, M. and Bier, E. (2006) Expression of the Rho-GEF Pb1/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum. Mol. Genet., 15, 2825-2835.
35. Moy, S.S. and Nadler, J.J. (2008) Advances in behavioral genetics: Mouse models of autism. Mol. Psychiatry, 13, 4-26.
36. Buntinx, I.M., Hennekam, R.C., Brouwer, O.F., Stroink, H., Beuten, J., Mangelschots, K. and Fryns, J.P. (1995) Clinical profile of Angelman syndrome at different ages. Am. J. Med. Genet., 56, 176-183.