Mechanisms of genomic imprinting

American Journal of Human Genetics

Volumn 67, Issue 4, 2000, Pages 777-787

  Pfeifer, K ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR;

CELL FUNCTION; CELL GROWTH; CELL MATURATION; CHROMATIN STRUCTURE; CHROMOSOME; DNA METHYLATION; DNA MODIFICATION; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENOME IMPRINTING; HUMAN; MAMMAL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; REVIEW;

MAMMALIA;

EID: 0033804122     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/303101     Document Type: Review

References (98)

1. Mechanism of imprinting on mouse distal chromosome 7
2. Gametic imprinting in mammals
3. The mouse insulin-like type-2 receptor is imprinted and closely linked to the Tme locus
4. Epigenetic mechanisms underlying the imprinting of the mouse H19 gene
5. Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene
6. The protein CTCF is required for the enhancer blocking activity of vertebrate insulators
7. Creation of genomic methylation patterns
8. DNA methyltransferases
9. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
10. Mechanisms of genomic imprinting
11. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway
12. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
13. Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
14. Multiple mechanisms regulate imprinting of the distal chromosome 7 gene cluster
15. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome
16. Parental origin effects in mice
17. Interchromosomal transfer of epigenetic states in Ascobulus: Transfer of DNA methylation is mechanistically related to homologous recombination
18. Orientation of DNA replication establishes mating-type switching pattern in S. pombe
19. Parental imprinting of the mouse insulin-like growth factor II gene
20. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
21. Beckwith-Wiedemann syndrome
22. A 5' differentially methylated sequence and the 3'-flanking region are necessary for H19 transgene imprinting
23. DNA methylation, genomic imprinting and cancer
24. Embryological and molecular investigations of parental imprinting on mouse chromosome 7
25. Parental-origin-specific epigenetic modifications of the mouse H19 gene
26. Structure and function correlations at the imprinted mouse Snrpn locus
27. A model system to study genomic imprinting of human genes
28. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
29. An imprinted, mammalian bicistronic transcript encodes two independent proteins
30. CTCF mediates methylation-sensitive enhancer blocking activity at the H19/Igf2 locus
31. Chromatin conformation of the H19 epigenetic mark
32. A new imprinted gene cloned by a methylation-sensitive genome scanning method
33. Uniparental disomy in a genetic cancer-predisposing syndrome
34. Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints with subchromosomal transferable fragments
35. Imprinting in Angelman and Prader-Willi syndromes
36. Establishment of functional imprinting of the H19 gene in human developing placentae
37. A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region
38. Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome
39. A transcriptional insulator at the imprinted H19/Igf2 locus
40. The 5'-flanking of the murine H19 gene in an unusual chromatin conformation unidirectionally blocks enhancer-promoter communication
41. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
42. A position-effect assay for boundaries of higher order chromosomal domains
43. A group of scs elements function as domain boundaries in an enhancer-blocking assay
44. Parental allele-specific chromatin configuration in a boundary-imprinting-control element upstream of the mouse H19
45. Homologous association of oppositely imprinted chromosomal domains
46. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KvLQT1 occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
47. Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements
48. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: Further evidence for regional imprinting control
49. Disruption of imprinting caused by deletion of the H19 gene region in mice
50. An enhancer deletion affects both H19 and Igf2 expression
51. Role for DNA methylation in genomic imprinting
52. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
53. Parental imprinting of human chromosome region 11p15.3pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia
54. Completion of mouse embryogenesis requires both the maternal and paternal genomes
55. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
56. A catalogue of imprinted genes and parent-of-origin effects in humans and animals
57. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2
58. DNA methylation and chromatin modification
59. The impact of genomic imprinting for neurobehavioral and developmental disorders
60. Imprinting in Prader-Willi and Angelman syndrome
61. Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation
62. Imprinting-mutation mechanisms in Prader-Willi syndrome
63. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi critical region
64. The structural H19 gene is required for transgene imprinting
65. Genetic linkage of Beckwith-Wiedemann syndrome to 11p15
66. Zac1 (Lot1), a potential tumor suppresser gene, and the gene for ε-sarcoglycan are maternally imprinted genes: Identification by a subtractive screen of novel uniparental fibroblast lines
67. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain
68. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
69. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
70. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
71. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
72. Parental imprinting: Potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene
73. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
74. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
75. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
76. H19 and Igf2 monoallelic expression is regulated in two distinct ways by a shared cis acting regulatory region upstream of H19
77. Loss of imprinting at IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumor
78. Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal
79. Development of reconstituted eggs suggests imprinting of the genome during gametogenesis
80. Neuronally-expressed necdin gene: An imprinted candidate gene in the Prader-Willi syndrome
81. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
82. The paternal allele of the H19 gene is progressively silenced during early mouse development: The acetylation status of histories may be involved in the generation of variegated expression patterns
83. Allele-specific expression and total expression levels of imprinted genes during early mouse development: Implications for imprinting mechanisms
84. Characterization of novel parent-specific epigenetic modifications upstream of the imprinted mouse H19 gene
85. Maternal-specific footprints at putative CTCF sites in the H19 imprinting control region give evidence for insulator function
86. Parental origin-specific expression of Mash2 is established at the time of implantation with its imprinting mechanism highly resistant to genome-wide demethylation
87. Deletion of the H19 differentially methylated domain results in loss of imprinted expression of H19 and Igf2
88. A paternal-specific methylation imprint marks the alleles of the mouse H19 gene
89. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides good evidence for a gene contributing to Prader-Willi syndrome
90. The 87A7 chromomere: Identification of novel chromatin structures flanking the heat shock locus that may define the boundaries of higher order domains
91. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
92. Location of enhancers is essential for imprinting of H19 and Igf2
93. Disruption of insulin-like growth factor imprinting in Beckwith-Wiedemann syndrome
94. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted
95. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
96. Epigenetics: Regulation through repression
97. Imprinted expression of the Igf2r gene depends on an intronic CpG island
98. A mouse model for Prader-Willi syndrome imprinting-centre mutations