Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
- 8 December 2005
- journal article
- Published by Springer Nature in Chromosome Research
- Vol. 13 (8), 809-818
- https://doi.org/10.1007/s10577-005-1015-4
Abstract
The gene MEG3 is located in the imprinted human chromosomal region on 14q32. Imprinting of a structurally homologous region IGF2/H19 on 11p15 is mediated through cytosine methylation-controlled binding of the protein CTCF to target sites upstream of H19. We identified five new CTCF binding sites around the promoter of MEG3. Using an electrophoretic mobility shift assay, we showed that these sites bind CTCF in vitro. Using one of these sites, chromatin immunoprecipitation (ChIP) analysis confirmed CTCF binding in-vivo, and differential allele-specific methylation was demonstrated in seven individuals with either maternal or paternal uniparental disomy 14 (UPD14). The site was unmethylated on the maternally inherited chromosomes 14 and methylated on the paternally inherited chromosomes 14, suggesting parent-specific methylation of sequences upstream of MEG3. We speculate that this CTCF-binding region may provide a mechanism for the transcriptional regulation of MEG3 and DLK1.Keywords
This publication has 46 references indexed in Scilit:
- Poly(ADP-ribosyl)ation regulates CTCF-dependent chromatin insulationNature Genetics, 2004
- Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndromeNature Genetics, 2004
- Role of CTCF Binding Sites in the Igf2/H19 Imprinting Control RegionMolecular and Cellular Biology, 2004
- Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short armsAmerican Journal of Medical Genetics, 2002
- Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocationsAmerican Journal of Medical Genetics, 2002
- A case of segmental paternal isodisomy of chromosome 14Human Genetics, 2002
- The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangementsPrenatal Diagnosis, 2002
- Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restrictionPrenatal Diagnosis, 2001
- Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.Journal of Medical Genetics, 1998
- A 5′ element of the chicken β-globin domain serves as an insulator in human erythroid cells and protects against position effect in DrosophilaCell, 1993