CHARACTERIZATION OF A METHYLATION IMPRINT IN THE PRADER-WILLI-SYNDROME CHROMOSOME REGION

被引：79

作者：

DITTRICH, B ^{[1
]}

BUITING, K ^{[1
]}

GROSS, S ^{[1
]}

HORSTHEMKE, B ^{[1
]}

机构：

[1] UNIV ESSEN GESAMTHSCH KLINIKUM,INST HUMANGENET,D-45122 ESSEN,GERMANY

来源：

HUMAN MOLECULAR GENETICS | 1993年 / 2卷 / 12期

关键词：

D O I：

10.1093/hmg/2.12.1995

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

In adult human tissues, a Hpall and a Cfol 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 Hpall site is part of a sequence with high homology to the long terminal repeat of human endogenous retroviruses. Another Hpall 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 Hpall sites are unmethylated. These findings suggest that the PW71 methylation imprint is established in the germline and that extraembryonic tissues and tumors are hypomethylated.

引用

页码：1995 / 1999

页数：5

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