Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice

Brain Research

Volumn 1180, Issue 1, 2007, Pages 1-6

  Lawson Yuen, Amy ^a,b   Liu, Daniel ^a   Han, Liqun ^a   Jiang, Zhichun I ^c   Tsai, Guochuan E ^c   Basu, Alo C ^a   Picker, Jonathan ^a,b   Feng, Jiamin ^a   Coyle, Joseph T ^a  

^a MCLEAN HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARBOR UCLA MEDICAL CENTER   (United States)

Author keywords

Angelman syndrome; MeCP2; Mouse model; Rett syndrome; UBE3A

Indexed keywords

MESSENGER RNA; METHYL CPG BINDING PROTEIN 2; UBIQUITIN PROTEIN LIGASE; UBIQUITIN PROTEIN LIGASE 3A; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATROPHY; BREATHING DISORDER; CLINICAL FEATURE; CONTROLLED STUDY; GENE EXPRESSION REGULATION; GENETIC TRANSCRIPTION; HAPPY PUPPET SYNDROME; KNOCKOUT MOUSE; MICROCEPHALY; MOUSE; NERVE CELL DIFFERENTIATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; REPRESSOR GENE; RETT SYNDROME; SEIZURE; SPEECH DISORDER; STRAIN DIFFERENCE; WEIGHT CHANGE; WILD TYPE;

ANIMALS; CEREBRAL CORTEX; DISEASE MODELS, ANIMAL; FEMALE; GENE EXPRESSION REGULATION; MALE; METHYL-CPG-BINDING PROTEIN 2; MICE; MICE, MUTANT STRAINS; MUTAGENESIS, SITE-DIRECTED; RETT SYNDROME; RNA, MESSENGER; UBIQUITIN-PROTEIN LIGASES;

MUS;

EID: 35548983001     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainres.2007.08.039     Document Type: Article

References (30)

1. Amir R.E., et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet. 23 (1999) 185-188
2. Angelman H. "Puppet children." A report of three cases. Dev. Med. Child Neurol. 7 (1965) 681-688
3. Bienvenu T., and Chelly J. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat. Rev., Genet. 7 (2006) 415-426
4. Chamberlain S.J., and Brannan C.I. The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a. Genomics 73 (2001) 316-322
5. Chen R.Z., et al. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat. Genet. 27 (2001) 327-331
6. Chen W.G., et al. Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302 (2003) 885-889
7. Clayton-Smith J., and Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J. Med. Genet. 40 (2003) 87-95
8. Evans J.C., et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur. J. Hum. Genet. 13 10 (2005) 1113-1120
9. Guy J., et al. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat. Genet. 27 (2001) 322-326
10. Hagberg B., et al. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann. Neurol. 14 (1983) 471-479
11. Hagberg B., et al. Rett syndrome: criteria for inclusion and exclusion. Brain Develop. 7 (1985) 372-373
12. Hagberg B., et al. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden, Germany, 11 September 2001. Eur. J. Paediatr. Neurol. 6 (2002) 293-297
13. Jordan C., and Francke U. Ube3a expression is not altered in Mecp2 mutant mice. Hum. Mol. Genet. 15 (2006) 2210-2215
14. Kishino T., et al. UBE3A/E6-AP mutations cause Angelman syndrome. Nat. Genet. 15 (1997) 70-73
15. Landers M., et al. Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans. Nucleic Acids Res. 33 (2005) 3976-3984
16. Magenis R.E., et al. Is Angelman syndrome an alternate result of del(15)(q11q13)?. Am. J. Med. Genet. 28 (1987) 829-838
17. Makedonski K., et al. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affect UBE3A expression. Hum. Mol. Genet. 14 8 (2005) 1049-1058
18. Mari F., et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum. Mol. Genet. 14 (2005) 1935-1946
19. Moretti P., and Zoghbi H.Y. MeCP2 dysfunction in Rett syndrome and related disorders. Curr. Opin. Genet. Dev. 16 (2006) 276-281
20. Rett A. On a unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med. Wochenschr. 116 (1966) 723-726
21. Rougeulle C., et al. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat. Genet. 17 (1997) 14-15
22. Rougeulle C., et al. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat. Genet. 19 (1998) 15-16
23. Runte M., et al. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Hum. Mol. Genet. 10 (2001) 2687-2700
24. Samaco R.C., et al. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum. Mol. Genet. 14 (2005) 483-492
25. Scala E., et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. 42 (2005) 103-107
26. Tao J., et al. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am. J. Hum. Genet. 75 (2004) 1149-1154
27. Tudor M., et al. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 15536-15541
28. Vu T.H., and Hoffman A.R. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat. Genet. 17 (1997) 12-13
29. Williams C.A., et al. Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am. J. Med. Genet. 56 (1995) 237-238
30. Zhou Z., et al. Brain-specific phosphorylation of MeCP2 regulates activity-dependent BDNF transcription, dendritic growth, and spine maturation. Neuron 52 (2006) 255-269