Undermethylation of Alu sequences in ICF syndrome: Molecular and in situ analysis

被引：27

作者：

Miniou, P

Bourchis, D

Gomes, DM

Jeanpierre, M

ViegasPequignot, E

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U383,F-75743 PARIS 15,FRANCE

[2] CHU COCHIN PORT ROYAL,ICGM,INSERM,U129,PARIS,FRANCE

[3] CHU COCHIN PORT ROYAL,ICGM,SERV BIOCHIM GENET,PARIS,FRANCE

来源：

CYTOGENETICS AND CELL GENETICS | 1997年 / 77卷 / 3-4期

关键词：

D O I：

10.1159/000134605

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The methylation status of young Alu sequences was investigated in four ICF patients. In fibroblast and leukocyte DNAs, Alu repeats were either undermethylated (HhaI and HpaII digestion) or demethylated (BstUI digestion), in contrast with the methylated status of Alus in control subjects. The methylation profile exhibited in ICF patients reproduces the normal profile of placental or sperm DNA. High-sensitivity immunocytochemical detection of HhaI and HpaII restriction sites on metaphase chromosomes provided further evidence of this undermethylation. The DNA methylation defect in ICF patients, first detected in satellite DNAs (constitutive heterochromatin) and CpG islands of genes on the inactive X chromosome (facultative heterochromatin), thus includes Alu sequences that are widely distributed throughout the human genome.

引用

页码：308 / 313

页数：6

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[1] INSITU NICK TRANSLATION OF HUMAN METAPHASE CHROMOSOMES WITH THE RESTRICTION ENZYMES MSPI AND HPAII REVEALS AN R-BAND PATTERN [J].