Literature DB >> 8111365

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene.

K Buiting1, B Dittrich, S Gross, V Greger, M Lalande, W Robinson, A Mutirangura, D Ledbetter, B Horsthemke.   

Abstract

The Prader-Willi syndrome and the Angelman syndrome are caused by the loss of function of distinct but closely linked genes on human chromosome 15. Based on a yeast artificial chromosome restriction map and two key patients we have determined that the shortest region of deletion overlap in the Prader-Willi syndrome comprises 320 kb. The region includes the anonymous DNA marker PW71 (D15S63) and the gene for the small nuclear ribonucleoprotein N (SNRPN). The SNRPN gene maps 130 kb distal to PW71 and is transcribed from centromere to telomere.

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Year:  1993        PMID： 8111365     DOI： 10.1093/hmg/2.12.1991

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


  11 in total

1.  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

Review 2.  New insights reveal complex mechanisms involved in genomic imprinting.

Authors:  R D Nicholls
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

3.  An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13.

Authors:  B Dittrich; K Buiting; S Gross; B Horsthemke
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

4.  The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.

Authors:  J S Sutcliffe; Y H Jiang; R J Galijaard; T Matsuura; P Fang; T Kubota; S L Christian; J Bressler; B Cattanach; D H Ledbetter; A L Beaudet
Journal:  Genome Res       Date:  1997-04       Impact factor: 9.043

5.  A molecular and cytogenetic study in Finnish Prader-Willi patients.

Authors:  H Kokkonen; M Kähkönen; J Leisti
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

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.  Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

Authors:  A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

8.  Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

Authors:  C C Glenn; S Saitoh; M T Jong; M M Filbrandt; U Surti; D J Driscoll; R D Nicholls
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

9.  A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

Authors:  Deniz Kanber; Jacques Giltay; Dagmar Wieczorek; Corinna Zogel; Ron Hochstenbach; Almuth Caliebe; Alma Kuechler; Bernhard Horsthemke; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

10.  A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome.

Authors:  T Webb; D Clarke; C A Hardy; M W Kilpatrick; J Corbett; M Dahlitz
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318
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