Rett syndrome: A surprising result of mutation in MECP2

Human Molecular Genetics

Volumn 9, Issue 16 REV. ISS., 2000, Pages 2365-2375

  Dragich, J ^a   Houwink Manville, I ^a   Schanen, C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; DNA; DNA METHYLTRANSFERASE; HISTONE;

ANIMAL TISSUE; CHROMATIN; CONTROLLED STUDY; CPG ISLAND; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE REPRESSION; GENE STRUCTURE; GENETIC CODE; GENETIC ORGANIZATION; HUMAN; HUMAN TISSUE; MALE; METHYLATION; MISSENSE MUTATION; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; TRANSCRIPTION REGULATION; X CHROMOSOME INACTIVATION;

ANIMALIA;

EID: 0033763712     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.16.2365     Document Type: Review

References (108)

1. Uber ein eigenartiges hirnatrophisches syndrom bei Hyperammonamie im
2. A progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's Syndrome: Report of 35 cases
3. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
4. The genetics of Rett syndrome: The consequences of a disorder where every case is a new mutation
5. Segregation analysis of the X-chromosome in a family with Rett syndrome in two generations
6. Rett syndrome: Exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations
7. Examination of X chromosome markers in Rett syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis
8. X chromosome linkage studies in familial Rett syndrome
9. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
10. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
11. Rett syndrome: Confirmation of X-linked dominant inheritance and localization of the gene to Xq28
12. Mutation screening in Rett syndrome patients
13. Patterns of X chromosome inactivation in the Rett syndrome
14. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
15. X inactivation in females with X-linked disease
16. Difference in early development of presumed monozygotic twins with Rett syndrome
17. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome
18. A girl with features of two X-linked dominant disorders: Rett syndrome and incontinentia pigmenti
19. Search for X-chromosomal microdeletions in Rett syndrome
20. Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21
21. Search for mutations in the GdX in Rett syndrome
22. Identification of a second polymorphism in the human serotonin receptor 2C gene (5-HT2C)
23. Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome
24. The genetic basis of Rett syndrome: Candidate gene considerations
25. A candidate gene for Rett syndrome: Search for mutations in the UBE2A gene
26. Evaluation of two X chromosomal candidate genes for Rett syndrome: Glutamate dehydrogenase-2 (GLUD2) and rab GDP-dissociation inhibitor (GDH)
27. Mutation analysis of the M6b gene in patients with Rett syndrome
28. Exclusion of the gastrin-releasing peptide receptor (GRPR) locus as a candidate gene for Rett syndrome
29. Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome
30. Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq
31. Altered energy balance may account for growth failure in Rett syndrome
32. Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome
33. Osteopenia in Rett syndrome
34. Electrocardiographic findings in Rett syndrome: An explanation for sudden death?
35. Prolonged QT interval in Rett syndrome
36. Assignment of the gene for methyl-CpG-binding protein 2 (MECP2) to human chromosome band Xq28 by in situ hybridization
37. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
38. Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome
39. Isolation, physical mapping and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
40. Comparative sequence analysis of the MECP2-locus in human and mouse reveals new transcribed regions
41. A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3'-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression
42. Transcription factor Sp1 is essential for early embryonic development but dispensable for cell growth and differentiation
43. The X-linked methylated DNA binding protein, Mecp2, is subject to X inactivation in the mouse
44. Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA
45. DNA methylation and chromatin modification
46. Relationships between chromatin organization and DNA methylation in determining gene expression
47. The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression
48. Role of histone acetylation and DNA methylation in the maintenance of the imprinted expression of the H19 and Igf2 genes
49. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
50. Nuclear localization and histone acetylation: A pathway for chromatin opening and transcriptional activation of the human beta-globin locus
51. Effects of DNA methylation on DNA-binding proteins and gene expression
52. DNA methylation represses transcription in vivo
53. Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs
54. DNA methylation inhibits transcription indirectly via a methyl-CpG binding protein
55. Purification, sequence and cellular localization of a novel chromosomal protein that binds to methylated DNA
56. Repression of genes by DNA methylation depends on CpG density and promoter strength: Evidence for involvement of a methyl-CpG binding protein
57. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
58. Gene silencing by methyl-CpG-binding proteins
59. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2
60. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
61. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
62. DNA methylation specifies chromosomal localization of MeCP2
63. Methyl-CpG-binding protein MeCP2 represses Sp1-activated transcription of the human leukosialin gene when the promoter is methylated
64. Solution structure of the methyl-CpG-binding domain of the methylation-dependent transcriptional repressor MBD1
65. The solution structure of the domain from MeCP2 that binds to methylated DNA
66. DNA methylation, nucleosomes and the inheritance of chromatin structure and function
67. Chromatin structural features and targets that regulate transcription
68. MeCP2 driven transcriptional repression in vitro: Selectivity for methylated DNA, action at a distance and contacts with the basal transcription machinery
69. Histone deacetylase-independent transcriptional repression by methyl-CpG-binding protein 2
70. Cytosine methylation transforms an E2F site in the retinoblastoma gene promoter into a binding site for the general repressor methylcytosine-binding protein 2 (MeCP2)
71. Nuclear matrix protein ARBP recognizes a novel DNA sequence motif with high affinity
72. Chicken MAR-binding protein ARBP is homologous to rat methyl-CpG-binding protein MeCP2
73. Perinuclear localization of chromatin facilitates transcriptional silencing
74. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
75. MECP2 mutations account for most cases of typical forms of Rett syndrome
76. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: Correlation of disease severity with mutation type and location
77. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome
78. The methyl-CpG binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
79. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
80. High male:Female ratio of germ-line mutations: An alternative explanation for postulated gestational lethality in males in X-linked dominant disorders
81. Intron function in the nonsense-mediated decay of beta-globin mRNA: Indications that pre-mRNA splicing in the nucleus can influence mRNA translation in the cytoplasm
82. Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
83. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA
84. Gene number, noise reduction and biological complexity
85. Breaking the silence in Rett syndrome
86. Cytogenetic and molecular-cytogenetic investigation of Rett syndrome: Analysis of 31 cases
87. Densely methylated sequences that are preferentially localized at telomere-proximal regions of human chromosomes
88. Developmental pattern of gene-specific DNA methylation in the mouse embryo and germ line
89. A role for DNA methylation in gastrulation and somite patterning
90. Expression of DNA methyltransferase gene in mature and immature neurons as well as proliferating cells in mice
91. Is there an epigenetic component in long-term memory?
92. Deficient long-term memory in mice with a targeted mutation of the cAMP-responsive element-binding protein
93. CpG methylation of the cAMP-responsive enhancer/promoter sequence TGACGTCA abolishes specific factor bindings as well as transcriptional activation
94. Neural restrictive silencer factor recruits mSin3 and histone deacetylase complex to repress neuron-specific target genes
95. Coactivator and corepressor complexes in nuclear receptor function
96. Nuclear receptor repression mediated by a complex containing SMRT, mSin3A and histone deacetylase
97. Unique forms of human and mouse nuclear receptor corepressor SMRT
98. Transcriptional repression by REST: Recruitment of Sin3A and histone deacetylase to neuronal genes
99. NRSF/REST is required in vivo for repression of multiple neuronal target genes during embryogenesis
100. Transcriptional regulation of the GluR2 gene: Neural-specific expression, multiple promoters and regulatory elements
101. Genomic sequencing and in vivo footprinting of an expression-specific DNase I-hypersensitive site of avian vitellogenin II promoter reveal a demethylation of a mCpG and a change in specific interactions of proteins with DNA
102. Estradiol down regulates the binding activity of an avian vitellogenin gene repressor (MDBP-2) and triggers a gradual demethylation of the mCpG pair of its DNA binding site
103. Rett variants: A suggested model for inclusion criteria
104. Rett syndrome: Clinical peculiarities and biological mysteries
105. Chromosome instability in ICF syndrome: Formation of micronuclei from multibranched chromosomes 1 demonstrated by fluorescence in situ hybridization
106. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
107. The protein data bank