Human Molecular Genetics, Vol 5, 1155-1161, Copyright © 1996 by Oxford University Press
Y Jinno, K Sengoku, M Nakao, K Tamate, T Miyamoto, T Matsuzaka, JS Sutcliffe, T Anan, N Takuma, K Nishiwaki, Y Ikeda, T Ishimaru, M Ishikawa and N Niikawa
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.
ARTICLES
Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus
Department of Human Genetics, Nagasaki University School of Medicine, Japan.
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