PEG1 expression in maternal uniparental disomy 7

Ann Genet. 1997;40(4):211-5.


PAG1/MEST is an imprinted gene mapping to human chromosome 7q32. In human embryos and placenta, PEG1 is expressed from the paternally derived allele only, while maternal and paternal alleles are transcribed in adult blood lymphocytes. We aimed at investigating the origin of the maternal PEG1 transcript by studying PEG1 mRNA in two maternal uniparental disomy 7 patients suffering from severe pre- and post-natal growth restriction. PEG1 expression has been characterised by RT-PCR from leukocytes RNA using several primer pairs. The distal coding region in PEG1 mRNA could be repeatedly amplified from mUPD patients blood cells, but no amplification could be performed from the first exon, suggesting that the first exon was not a component of the maternal PEG1 transcript. As six independent database sequences showed that exon 2 was exactly joined to a novel sequence unrelated to exon 1 but identical in the common region of the six sequences, we hypothesized that our observation of PEG1 expression in the two maternal uniparental disomy 7 patients could be explained by transcription of the maternal allele from an alternate maternal upstream promoter.

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 7*
  • Female
  • Genomic Imprinting
  • Humans
  • Male
  • Mothers