Literature DB >> 18500341

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Trilochan Sahoo1, Daniela del Gaudio, Jennifer R German, Marwan Shinawi, Sarika U Peters, Richard E Person, Adolfo Garnica, Sau Wai Cheung, Arthur L Beaudet.   

Abstract

Prader-Willi syndrome (PWS) is caused by deficiency for one or more paternally expressed imprinted transcripts within chromosome 15q11-q13, including SNURF-SNRPN and multiple small nucleolar RNAs (snoRNAs). Balanced chromosomal translocations that preserve expression of SNURF-SNRPN and centromeric genes but separate the snoRNA HBII-85 cluster from its promoter cause PWS. A microdeletion of the HBII-85 snoRNAs in a child with PWS provides, in combination with previous data, effectively conclusive evidence that deficiency of HBII-85 snoRNAs causes the key characteristics of the PWS phenotype, although some atypical features suggest that other genes in the region may make more subtle phenotypic contributions.

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Year:  2008        PMID： 18500341      PMCID： PMC2705197          DOI： 10.1038/ng.158

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.

Authors:  M Runte; A Hüttenhofer; S Gross; M Kiefmann; B Horsthemke; K Buiting
Journal:  Hum Mol Genet       Date:  2001-11-01       Impact factor: 6.150

2.  Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

Authors:  J M Conroy; T A Grebe; L A Becker; K Tsuchiya; R D Nicholls; K Buiting; B Horsthemke; S B Cassidy; S Schwartz
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

3.  A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

Authors:  J Wirth; E Back; A Hüttenhofer; H G Nothwang; C Lich; S Gross; C Menzel; A Schinzel; P Kioschis; N Tommerup; H H Ropers; B Horsthemke; K Buiting
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

4.  The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Authors:  M Gunay-Aygun; S Schwartz; S Heeger; M A O'Riordan; S B Cassidy
Journal:  Pediatrics       Date:  2001-11       Impact factor: 7.124

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.

Authors:  T de los Santos; J Schweizer; C A Rees; U Francke
Journal:  Am J Hum Genet       Date:  2000-09-26       Impact factor: 11.025

6.  Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.

Authors:  Y Sun; R D Nicholls; M G Butler; S Saitoh; B E Hainline; C G Palmer
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

7.  Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Authors:  Joachim Bürger; Denise Horn; Holger Tönnies; Heidemarie Neitzel; André Reis
Journal:  Am J Med Genet       Date:  2002-08-15

8.  Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.

Authors:  A Schulze; C Hansen; N E Skakkebaek; K Brøndum-Nielsen; D H Ledbeter; N Tommerup
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330

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

Authors:  Renata C Gallagher; Birgit Pils; Mohammed Albalwi; Uta Francke
Journal:  Am J Hum Genet       Date:  2002-07-31       Impact factor: 11.025

10.  Prader-Willi syndrome is caused by disruption of the SNRPN gene.

Authors:  C D Kuslich; J A Kobori; G Mohapatra; C Gregorio-King; T A Donlon
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025
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  228 in total

1.  Hypothalamic expression of snoRNA Snord116 is consistent with a link to the hyperphagia and obesity symptoms of Prader-Willi syndrome.

Authors:  Qian Zhang; Gerrit J Bouma; Kristy McClellan; Stuart Tobet
Journal:  Int J Dev Neurosci       Date:  2012-06-01       Impact factor: 2.457

Review 2.  Genetic approaches to understanding human obesity.

Authors:  Shwetha Ramachandrappa; I Sadaf Farooqi
Journal:  J Clin Invest       Date:  2011-06-01       Impact factor: 14.808

Review 3.  Common cellular and molecular mechanisms in obesity and drug addiction.

Authors:  Paul J Kenny
Journal:  Nat Rev Neurosci       Date:  2011-10-20       Impact factor: 34.870

Review 4.  Non-coding RNAs in human disease.

Authors:  Manel Esteller
Journal:  Nat Rev Genet       Date:  2011-11-18       Impact factor: 53.242

Review 5.  Are snoRNAs and snoRNA host genes new players in cancer?

Authors:  Gwyn T Williams; Farzin Farzaneh
Journal:  Nat Rev Cancer       Date:  2012-01-19       Impact factor: 60.716

Review 6.  Regulation of alternative splicing by short non-coding nuclear RNAs.

Authors:  Amit Khanna; Stefan Stamm
Journal:  RNA Biol       Date:  2010-07-01       Impact factor: 4.652

7.  A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.

Authors:  Nora Urraca; Lea Davis; Edwin H Cook; N Carolyn Schanen; Lawrence T Reiter
Journal:  Genet Test Mol Biomarkers       Date:  2010-08

Review 8.  Emerging roles of the neuronal nucleolus.

Authors:  Michal Hetman; Maciej Pietrzak
Journal:  Trends Neurosci       Date:  2012-02-02       Impact factor: 13.837

9.  The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.

Authors:  Yonatan Stelzer; Ido Sagi; Ofra Yanuka; Rachel Eiges; Nissim Benvenisty
Journal:  Nat Genet       Date:  2014-05-11       Impact factor: 38.330

10.  Influence of the Prader-Willi syndrome imprinting center on the DNA methylation landscape in the mouse brain.

Authors:  Jason O Brant; Alberto Riva; James L Resnick; Thomas P Yang
Journal:  Epigenetics       Date:  2014-11       Impact factor: 4.528
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