Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus

Hum Mol Genet. 1996 Aug;5(8):1155-61. doi: 10.1093/hmg/5.8.1155.

Abstract

We have identified a region with characteristics of a paternal-specific methylation imprint at the human H19 locus. This region, extending from -2.0 kb upstream to the start of transcription, is heavily methylated in sperm and on the paternal allele in somatic cells. This methylation was preserved during pre-implantation. Structural analysis revealed the presence of CpG islands and a large direct repeat with a 400 bp sequence reiterated several times, but no significant sequence homology to the corresponding region of the mouse H19 gene. These findings could suggest a role for secondary DNA structure in genomic imprinting across the species, and they also present a puzzling aspect of the evolution of the H19 regulatory region in human and mouse.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Animals
  • Base Sequence
  • CpG Islands
  • DNA / genetics
  • DNA Methylation*
  • DNA Primers / genetics
  • Embryonic Development / genetics
  • Evolution, Molecular
  • Female
  • Genes, Tumor Suppressor*
  • Genomic Imprinting*
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Muscle Proteins / metabolism*
  • Placenta / metabolism
  • Polymerase Chain Reaction
  • Pregnancy
  • RNA, Long Noncoding
  • RNA, Untranslated*
  • Species Specificity

Substances

  • DNA Primers
  • H19 long non-coding RNA
  • Muscle Proteins
  • RNA, Long Noncoding
  • RNA, Untranslated
  • DNA

Associated data

  • GENBANK/U50731