Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome

American Journal of Human Genetics

Volumn 71, Issue 3, 2002, Pages 669-678

  Gallagher, Renata C ^a   Pils, Birgit ^a,b   Albalwi, Mohammed ^a   Francke, Uta ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

SMALL NUCLEOLAR RNA;

ARTICLE; CHROMOSOME TRANSLOCATION; FIBROBLAST; GENE; GENE CLUSTER; GENE DELETION; GENE LOCUS; GENETIC CODE; GENETIC TRANSCRIPTION; HAPPY PUPPET SYNDROME; HBII 85 GENE; HUMAN; HYBRID CELL; LYMPHOBLAST; NONHUMAN; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROTEIN EXPRESSION; PWCR1 GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOMATIC CELL;

EID: 0036724342     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342408     Document Type: Article

References (30)

1. A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
2. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization
3. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region
4. Balanced translocation 46, XY, t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
5. 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
6. Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome
7. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
8. Gene quantification using real-time quantitative PCR: An emerging technology hits the mainstream
9. An imprinted, mammalian bicistronic transcript encodes two independent proteins
10. Cloning of the breakpoints of a submicroscopic deletion in an Angelman syndrome patient
11. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria
12. DNA deletion and its parental origin in Angelman syndrome patients
13. Prader-Willi syndrome: Consensus diagnostic criteria
14. RNomics: An experimental approach that identifies 201 candidates for novel, small, non-messenger RNAs in mouse
15. Characterisation of the U83 and U84 small nucleolar RNAs: Two novel 2′-O-ribose methylation guide RNAs that lack complementarities to ribosomal RNAs
16. Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
17. Small nucleolar RNAs: An abundant group of noncoding RNAs with diverse cellular functions
18. Prader-Willi syndrome is caused by disruption of the SNRPN gene
19. Large-scale evaluation of imprinting status in the Prader-Willi syndrome region: An imprinted direct repeat cluster resembling small nucleolar RNA genes
20. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
21. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A
22. The snoRNA box C/D motif directs nucleolar targeting and also couples snoRNA synthesis and localization
23. Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint
24. Breakage in the SNRPN locus in a balanced 46, XY, t(15;19) Prader-Willi syndrome patient
25. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
26. 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
27. An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene
28. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region
29. A translocation breakpoint cluster disrupts the newly defined 3′ end of the SNURF-SNRPN transcription unit on chromosome 15
30. A mouse model for Prader-Willi syndrome imprinting-centre mutations