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Article

Epigenetic detection of human chromosome 14 uniparental disomy

13 Jun 2003

Abstract excerpt

The recent demonstration of genomic imprinting of DLK1 and MEG3 on human chromosome 14q32 indicates that these genes might contribute to the discordant phenotypes associated with uniparental disomy (UPD) of chromosome 14. Regulation of imprinted expression of DLK1 and MEG3 involves a differentially methylated region (DMR) that encompasses the MEG3 promoter. We exploited the normal differential methylation of the...

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PMID: 12815599
DOI: 10.1002/humu.10237

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Epigenetic detection of human chromosome 14 uniparental disomyPMID 12815599Read ↗

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Mouse <i>Peg9/Dlk1</i> and human <i>PEG9/DLK1</i> are paternally expressed imprinted genes closely located to the maternally expressed imprinted genes: mouse <i>Meg3/Gtl2</i> and human <i>MEG3</i>Semantic proximity Read ↗

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