Human Molecular Genetics, Vol 6, 1907-1915, Copyright © 1997 by Oxford University Press
L Lefebvre, S Viville, SC Barton, F Ishino and MA Surani
We previously identified Peg1/Mest as a novel paternally expressed gene in
the developing mouse embryo. The human PEG1 gene was recently assigned to
7q32 and shown to be imprinted and paternally expressed. Therefore, PEG1
deficiency could participate in the aetiology of pre- and post-natal growth
retardation associated with maternal uniparental disomy 7 in humans. We
have now initiated the characterization of the Peg1 locus in order to
identify and dissect cis-acting elements implicated in its imprinted
monoallelic expression. The genomic structure of Peg1 as well as the DNA
sequence of the 5'-end of the gene, including 2.4 kb of promoter sequences
and covering the first 2 exons, have been determined. Important sequence
elements, such as a CpG island spanning exon 1 and direct repeats, are
identified and discussed. To address the role of epigenetic modifications
in the imprinting of Peg1, a methylation analysis of the Peg1 gene is
presented. Partially methylated cytosine residues in 13.5 d.p.c. embryos
and undifferentiated ES cells were identified. Using embryos carrying a
targetted mutation at the Peg1 locus, we show that this partial promoter
methylation pattern reflects a strict parent-of-origin- specific
differential methylation: the expressed paternal allele is unmethylated,
whereas the silenced maternal allele is fully methylated at the CpG sites
studied. That the gametes carry the epigenetic information necessary to lay
down this allele-specific methylation pattern is suggested by analysis of
DNA isolated from sperm and parthenogenetic embryos.
ARTICLES
Genomic structure and parent-of-origin-specific methylation of Peg1
Wellcome/CRC Institute of Cancer and Developmental Biology and Physiological Laboratory, University of Cambridge, UK. l.lefebvre@welc.cam.ac.uk
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