Literature DB >> 8111366

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

B Dittrich1, K Buiting, S Gross, B Horsthemke.   

Abstract

In adult human tissues, a HpaII and a CfoI restriction site at the PW71 (D15S63) locus in the Prader-Willi syndrome region on chromosome 15 are methylated on the maternal chromosome, but unmethylated on the paternal chromosome. The HpaII site is part of a sequence with high homology to the long terminal repeat of human endogenous retroviruses. Another HpaII site at the PW71 locus is methylated on both chromosomes. Sperm DNA carries the adult paternal methylation pattern. Oocyte DNA could not be studied. In chorion, placenta and tumor DNA, both HpaII sites are unmethylated. These findings suggest that the PW71 methylation imprint is established in the germline and that extraembryonic tissues and tumors are hypomethylated.

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Year:  1993        PMID： 8111366     DOI： 10.1093/hmg/2.12.1995

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


  24 in total

1.  Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Authors:  H L Gilbert; J L Buxton; C T Chan; T McKay; S Cottrell; S Ramsden; R M Winter; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.

Authors:  B Horsthemke; A Maat-Kievit; E Sleegers; A van den Ouweland; K Buiting; C Lich; P Mollevanger; G Beverstock; G Gillessen-Kaesbach; G Schwanitz
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

3.  A model system to study genomic imprinting of human genes.

Authors:  J M Gabriel; M J Higgins; T C Gebuhr; T B Shows; S Saitoh; R D Nicholls
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-08       Impact factor: 11.205

4.  Clonal heterogeneity at allelic methylation sites diagnostic for Prader-Willi and Angelman syndromes.

Authors:  J M LaSalle; R J Ritchie; H Glatt; M Lalande
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-17       Impact factor: 11.205

5.  DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).

Authors:  A M van den Ouweland; M N van der Est; E Wesby-van Swaay; T S Tijmensen; F J Los; J O Van Hemel; R C Hennekam; H J Meijers-Heijboer; M F Niermeijer; D J Halley
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Authors:  M Erdel; S Schuffenhauer; B Buchholz; U Barth-Witte; S Köchl; B Utermann; H C Duba; G Utermann
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

7.  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

8.  Imprinting-mutation mechanisms in Prader-Willi syndrome.

Authors:  T Ohta; T A Gray; P K Rogan; K Buiting; J M Gabriel; S Saitoh; B Muralidhar; B Bilienska; M Krajewska-Walasek; D J Driscoll; B Horsthemke; M G Butler; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

9.  Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

Authors:  T Ohta; K Buiting; H Kokkonen; S McCandless; S Heeger; H Leisti; D J Driscoll; S B Cassidy; B Horsthemke; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

10.  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
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