Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: An imprinted direct repeat cluster resembling small nucleolar RNA genes

Human Molecular Genetics

Volumn 10, Issue 4, 2001, Pages 383-394

  Meguro, Makiko ^a   Mitsuya, Kohzoh ^a,d   Nomura, Nobuo ^b   Kohda, Masakazu ^a   Kashiwagi, Akiko ^a   Nishigaki, Ryuichi ^a   Yoshioka, Hirotaka ^a   Nakao, Mitsuyoshi ^c   Oishi, Michio ^b   Oshimura, Mitsuo ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b KAZUSA DNA RESEARCH INSTITUTE   (Japan)

^c KUMAMOTO UNIV SCHOOL OF MEDICINE   (Japan)

^d BABRAHAM INSTITUTE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; NUCLEASE; SMALL NUCLEOLAR RNA;

ALLELE; ARTICLE; CHICKEN; CHROMATIN; CHROMOSOME; CHROMOSOME 15; CONTROLLED STUDY; CYTOGENETICS; DATA BASE; DROSOPHILA; FAILURE TO THRIVE; FATHER; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE LOSS; GENETIC TRANSCRIPTION; GENOME IMPRINTING; HUMAN; HYBRID; INFANTILE HYPOTONIA; LETHALITY; MAMMAL; MENTAL DEFICIENCY; MOLECULAR CLONING; MOTHER; MOUSE; NONHUMAN; OBESITY; PERINATAL PERIOD; PHENOTYPE; PHYLOGENY; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPECIES; TANDEM REPEAT; XENOPUS;

DROSOPHILA; GALLUS GALLUS; MAMMALIA; XENOPUS;

EID: 0035864916     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.4.383     Document Type: Article

References (65)

1. Imprinting in Prader-Willi and Angelman syndromes
2. Imprinting in Angelman and Prader-Willi syndromes
3. UBE3A/E6-AP mutations cause Angelman syndrome
4. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
5. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
6. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
7. Mutation analysis of UBE3A in Angelman syndrome patients
8. Genetics of Angelman syndrome
9. Towards a molecular understanding of Prader-Willi and Angelman syndromes
10. Angelman syndrome: How many genes to remain silent?
11. Imprint switch mechanism indicated by mutations in Prader-Willi and Angelman syndromes
12. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript
13. Identification of novel imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: Further evidence for regional imprinting control
14. Incriminating gene suspects, Prader-Willi style
15. Disruption of the mouse necdin gene results in early post-natal lethality
16. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome
17. Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
18. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
19. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
20. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
21. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
22. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
23. Maintaining imprinting
24. A first-generation X-inactivation profile of the human X chromosome
25. Escapees on the X chromosome
26. Mouse A9 cells containing single human chromosomes for analysis of genomic imprinting
27. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
28. Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome
29. A physical map of 30 000 human genes
30. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein and PAR-2 (D15S225E)
31. The imprinted antisense RNA at the Igf2r locus overlaps but does not imprint Mas1
32. 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
33. Identification of differentially expressed RNA transcripts in neuropsychiatric disorders
34. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion, which is highly expressed in brain
35. Gene number, noise reduction and biological complexity
36. Clusters of multiple different small nucleolar RNA genes in plants are expressed as and processed from polycistronic pre-snoRNAs
37. A mammalian gene with introns instead of exons generating stable RNA products
38. The small nucleolar RNAs
39. Site-specific ribose methylation of preribosomal RNA: A novel function for small nucleolar RNAs
40. A small nucleolar RNA requirement for site-specific ribose methylation of rRNA in Xenopus
41. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
42. Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse
43. Isolation of genomic clones homologous to transcribed sequences from human X chromosome
44. An assay for X inactivation based on differential methylation at the fragile X locus, FMR1
45. Mechanisms of genomic imprinting
46. The sins of the fathers and mothers: Genomic imprinting in mammalian development
47. The uniqueness of the imprinting mechanism
48. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted
49. Targeted mutagenesis of Tsix leads to nonrandom X inactivation
50. DNA methylation: A molecular lock
51. Transcriptional control: Imprinting insulation
52. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
53. Minifly, a Drosophila gene required for ribosome biogenesis
54. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
55. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
56. The snoRNA box C/D motif directs nucleolar targeting and also couples snoRNA synthesis and localization
57. Human telomerase activation requires two independent interactions between telomerase RNA and telomerase reverse transcriptase
58. Modification of U6 spliceosomal RNA is guided by other small RNAs
59. A receptor subunit genes, using microcell-mediated chromosome transfer
60. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
61. Analysis of hypersensitive sites in chromatin
62. Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15
63. A complete YAC contig of the Prader-Willi/ Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene
64. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region