The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice

Nature Genetics

Volumn 28, Issue 3, 2001, Pages 232-240

  Bressler, Jan ^a   Tsai, Ting Fen ^a,b   Wu, Mei Yi ^a,b   Tsai, Shih Feng ^b   Ramirez, Maricela A ^a   Armstrong, Dawna ^a   Beaudet, Arthur L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ARTICLE; FEMALE; GENE DELETION; GENOME IMPRINTING; GROWTH RETARDATION; MALE; MOUSE; NONHUMAN; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ANGELMAN SYNDROME; ANIMALS; AUTOANTIGENS; BASE SEQUENCE; CHIMERA; CPG ISLANDS; DISEASE MODELS, ANIMAL; EXONS; FEMALE; GENOMIC IMPRINTING; GENOTYPE; MALE; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; PRADER-WILLI SYNDROME; PROMOTER REGIONS (GENETICS); RIBONUCLEOPROTEINS, SMALL NUCLEAR;

ANIMALIA;

EID: 0034931032     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/90067     Document Type: Article

References (49)

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4. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
5. Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient
6. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
7. Prader-Willi syndrome is caused by disruption of the SNRPN gene
8. An imprinted, mammalian bicistronic transcript encodes two independent proteins
9. Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice
10. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
11. Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
12. Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern
13. Structure and function correlations at the imprinted mouse Snrpn locus
14. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
15. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
16. Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
17. A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp
18. Imprinting-mutation mechanisms in Prader-Willi syndrome
19. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
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21. Imprinting moves to the centre
22. Mechanisms of genomic imprinting
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24. Competitive edge at the imprinted Prader-Willi/Angelman region?
25. De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
26. A mouse model for Prader-Willi syndrome imprinting-centre mutations
27. Sequencing and functional analysis of the SNRPN promoter: In vitro methylation abolishes promoter activity
28. A complete yeast artificial chromosome (YAC) contig of the Prader-Willi/Angelman syndrome (PWS/AS) region and refined localization of the SNRPN gene
29. The mouse necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region
30. 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
31. The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
32. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
33. Maternal epigenetics and methyl supplements affect agouti gene expression in Avy/a mice
34. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
35. A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes
36. Maternal methylation imprints on human chromosome 15 are established during or after fertilization
37. Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain
38. From the cover: Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
39. Necdin deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome
40. Disruption of the mouse necdin gene results in early post-natal lethality
41. Disruption of the mouse necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome
42. Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice
43. Detection of specific sequences among DNA fragments separated by gel electrophoresis
44. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
45. An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene
46. The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
47. Recycling selectable markers in mouse embryonic stem cells
48. Gene targeting in embryonic stem cells