Human diseases with underlying defects in chromatin structure and modification

Human Molecular Genetics

Volumn 10, Issue 20, 2001, Pages 2233-2242

  Hendrich, Brian ^a   Bickmore, Wendy ^b  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME PROTEIN;

ANIMAL CELL; ANIMAL TISSUE; CELL DIVISION; CHROMATIN STRUCTURE; CHROMOSOME ANALYSIS; CHROMOSOME CONDENSATION; CHROMOSOME SEGREGATION; CHROMOSOME STRUCTURE; CONTROLLED STUDY; EMBRYO; FEMALE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN SYNTHESIS; REVIEW; STRUCTURE ANALYSIS;

ANIMALIA;

EID: 0035475924     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.20.2233     Document Type: Review

References (105)

1. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
2. XNP mutation in a large family with Juberg-Marsidi syndrome
3. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: Demonstration that the mutation is involved in the inactivation bias
4. Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome
5. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase
6. ATRX encodes a novel member of the SNF2 family of proteins: Mutations point to a common mechanism underlying the ATR-X syndrome
7. A possible involvement of TIF1 α and TIF1 β in the epigenetic control of transcription by nuclear receptors
8. Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
9. Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes
10. Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
11. Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation
12. Maintenance of genomic methylation requires a SWI2/SNF2-like protein
13. Mobilization of transposons by a mutation abolishing full DNA methylation in Arabidopsis
14. The major dermatomyositis-specific Mi-2 autoantigen is a presumed helicase involved in transcriptional activation
15. A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase
16. The dermatomyositis-specific autoantigen Mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activites
17. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality
18. Transient depletion of xDnmt1 leads to premature gene activation in Xenopus embryos
19. Reduced DNA methylation in Arabidopsis thaliana results in abnormal plant development
20. Cloning and characterization of a family of novel mammalian DNA (cytosine-5) methyltransferases
21. Cloning and sequencing of a cDNA encoding DNA methyltransferase of mouse cells. The carboxyl-terminal domain of the mammalian enzymes is related to bacterial restriction methyltransferases
22. The human DNA methyltransferases (DNMTs) 1, 3a and 3b: Coordinate mRNA expression in normal tissues and overexpression in tumors
23. Cloning, expression and chromosome locations of the human DNMT3 gene family
24. Localization of the ICF syndrome to chromosome 20 by homozygosity mapping
25. ICF syndrome: A new case and review of the literature
26. 5-Azacytidine-induced undercondensations in human chromosomes
27. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome
28. Whole-genome methylation scan in ICF syndrome: Hypomethylation of non-satellite DNA repeats D4Z4 and NBL2
29. Abnormal methylation pattern in constitutive and facultative (X inactive chromosome) heterochromatin of ICF patients
30. Escape from gene silencing in ICF syndrome: Evidence for advanced replication time as a major determinant
31. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
32. DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development
33. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene
34. Genetic variation in ICF syndrome: Evidence for genetic heterogeneity
35. FISH analysis on spontaneously arising micronuclei in the ICF syndrome
36. Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin
37. A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation
38. Dnmt3a and Dnmt3b are transcriptional repressors that exhibit unique localization properties to heterochromatin
39. Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription
40. Inhibition of herpes simplex thymidine kinase gene expression by DNA methylation is an indirect effect
41. How does DNA methylation repress transcription?
42. Methylation-induced repression-belts, braces, and chromatin
43. Mammalian methyltransferases and methyl-CpG-binding domains: Proteins involved in DNA methylation
44. Methyl CpG binding proteins: Coupling chromatin architecture to gene regulation
45. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA
46. Identification and characterization of a family of mammalian methyl-CpG binding proteins
47. Active repression of methylated genes by the chromosomal protein MBD1
48. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
49. Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription
50. The MeCP1 complex represses transcription through preferential binding, remodeling, and deacetylating methylated nucleosomes
51. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
52. Diagnostic criteria for Rett syndrome
53. Rett's syndrome in the west of Scotland
54. X-linked α-thalassemia/mental retardation (ATR-X) syndrome: Localization to Xq12-q21.31 by X inactivation and linkage analysis
55. Patterns of X chromosome inactivation in the Rett syndrome
56. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
57. Two affected boys in a Rett syndrome family: Clinical and molecular findings
58. MeCP2 mutations in children with and without the phenotype of Rett syndrome
59. A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
60. Methylation moves into medicine
61. A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map
62. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome
63. Occurrence of Rett syndrome in boys
64. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
65. Rethinking the fate of males with mutations in the gene that causes Rett syndrome
66. Parental origin of de novo MECP2 mutations in Rett syndrome
67. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
68. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
69. The neuropathology of Rett syndrome-overview 1994
70. MeCP2 is a transcriptional repressor with abundant binding sites in genomic chromatin
71. MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
72. MECP2 mutation in male patients with non-specific X-linked mental retardation
73. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
74. MECP2 is highly mutated in X-linked mental retardation
75. A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males
76. DNA recognition by the methyl-CpG binding domain of MeCP2
77. Functional consequences of Rett syndrome mutations on human MeCP2
78. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
79. Diagnostic analysis of the Rubinstein-Taybi syndrome: Five cosmids should be used for microdeletion detection and low number of protein truncating mutations
80. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome
81. The CBP co-activator is a histone acetyltransferase
82. The transcriptional coactivators p300 and CBP are histone acetyltransferases
83. Synergistic activation of transcription by CBP and p53
84. Acetylation of general transcription factors by histone acetyltransferases
85. Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling
86. Abnormal skeletal patterning in embryos lacking a single Cbp allele: A partial similarity with Rubinstein-Taybi syndrome
87. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
88. Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
89. The nucleosomal response associated with immediate-early gene induction is mediated via alternative MAP kinase cascades: MSK1 as a potential histone H3/HMG-14 kinase
90. Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3
91. EGF induced SOS phosphorylation in PC12 cells involves P90 RSK-2
92. Phosphoacetylation of histone H3 on c-fos- and c-jun-associated nucleosomes upon gene activation
93. Regulation of chromatin structure by site-specific histone H3 methyltransferases
94. Synergistic coupling of histone H3 phosphorylation and acetylation in response to epidermal growth factor stimulation
95. Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation
96. The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells
97. A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy
98. Conjunction dysfunction: CBP/p300 in human disease
99. Tumors in Rubinstein-Taybi syndrome
100. Promoter-region hypermethylation and gene silencing in human cancer
101. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
102. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
103. Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice
104. Histone deacetylases: A common molecular target for differentiation treatment of acute myeloid leukemias?
105. Transcription therapy for cancer