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

Jinno Y, Sengoku K, Nakao M, Tamate K, Miyamoto T, Matsuzaka T, Sutcliffe JS, Anan T, Takuma N, Nishiwaki K, Ikeda Y, Ishimaru T, Ishikawa M, Niikawa N
Hum Mol Genet. 1996 5 (8): 1155-61

PMID: 8842735 · DOI:10.1093/hmg/5.8.1155

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.

MeSH Terms (23)

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

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