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  Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription

Riesewijk, A. M., Schepens, M. T., Welch, T. R., van den Berg-Loonen, E. M., Mariman, E. M., Ropers, H. H., et al. (1996). Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription. Genomics, 31(2), 158-66. doi:10.1006/geno.1996.0027.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E017-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E018-6
Genre: Journal Article

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 Creators:
Riesewijk, A. M.1, Author
Schepens, M. T.1, Author
Welch, T. R.1, Author
van den Berg-Loonen, E. M.1, Author
Mariman, E. M.1, Author
Ropers, H. H.1, Author
Kalscheuer, V. M.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Alleles Base Sequence Chromosomes, Artificial, Yeast/genetics Cloning, Molecular CpG Islands/genetics Genome, Human Humans Methylation Molecular Sequence Data Receptor, IGF Type 2/*genetics Transcription, Genetic
 Abstract: The human insulin-like growth factor type 2 receptor gene (IGF2R) is biallelically expressed in a variety of fetal and adult tissues. In contrast, the imprinted mouse Igf2r gene is expressed exclusively from the maternally inherited chromosome. The mouse gene contains two CpG islands that are methylated in a parent-specific manner. Methylation of the CpG island in the promoter region occurs on the repressed paternal gene copy. Methylation of the CpG island in intron 2 is specific for the active maternal allele and may represent the primary imprint. Here, we have analyzed the human IGF2R gene to investigate whether these motifs and their parent-of-origin-specific epigenetic modification have been conserved. As in the mouse, the human IGF2R gene was found to contain two CpG islands, one encompassing the transcription start site (CpG 1) and the other in the second intron (CpG 2). CpG 2 is hypermethylated on the maternal IGF2R allele. In contrast to the situation in the mouse, however, the human CpG 1 is completely unmethylated on both parental chromosomes. The human and mouse intronic CpG islands lack significant sequence homology, which suggests that DNA conformation plays a role in allele-specific methylation.

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 Dates: 1996
 Publication Status: Published in print
 Pages: -
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 Rev. Method: -
 Identifiers: Other: 8824797
DOI: 10.1006/geno.1996.0027
ISSN: 0888-7543 (Print) 0888-7543 (Linking)
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Title: Genomics
  Alternative Title : Genomics
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 31 (2) Sequence Number: - Start / End Page: 158 - 66 Identifier: -