Characterization and imprinting status of OBPH1/Obph1 gene: implications for an extended imprinting domain in human and mouse

Genomics. 2002 Dec;80(6):575-84. doi: 10.1006/geno.2002.7006.

Abstract

Human 11p15.5, as well as its orthologous mouse 7F4/F5, is known as the imprinting domain extending from IPL/Ipl to H19. OBPH1 and Obph1 are located beyond the presumed imprinting boundary on the IPL/Ipl side. We determined full-length cDNAs and complete genomic structures of both orthologues. We also investigated their precise imprinting and methylation status. The orthologues resembled each other in genomic structure and in the position of the 5' CpG island and were expressed ubiquitously. OBPH1 and Obph1 were predominantly expressed from the maternal allele only in placenta, with hypo- and not differentially methylated 5' CpG islands in both species. These results suggested that the imprinting domain would extend beyond the presumed imprinting boundary and that methylation of the 5' CpG island was not associated with the imprinting status in either species. It remains to be elucidated whether the gene is under the control of the KIP2/LIT1 subdomain or is regulated by a specific mechanism. Analysis of the precise genomic sequence around the region should help resolve this question.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics
  • CpG Islands / genetics
  • DNA / chemistry
  • DNA / genetics
  • DNA / metabolism
  • DNA Methylation
  • Female
  • Gene Expression
  • Genomic Imprinting*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide
  • Receptors, Steroid / genetics*
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Synteny

Substances

  • Receptors, Steroid
  • oxysterol binding protein
  • DNA

Associated data

  • GENBANK/AA146175
  • GENBANK/AA796535
  • GENBANK/AI020221
  • GENBANK/AI448476
  • GENBANK/AI510611