Journal Article

Mouse/Human Sequence Divergence in a Region with a Paternal-Specific Methylation Imprint at the Human <i>H19</i> Locus

Yoshihiro Jinno, Kazuo Sengoku, Mitsuyoshi Nakao, Kenichi Tamate, Toshinobu Miyamoto, Tetsuo Matsuzaka, James S. Sutcliffe, Tadashi Anan, Naoyuki Takuma, Kunihiko Nishiwaki, Yuichiro Ikeda, Tadayuki Ishimaru, Mutsuo Ishikawa and Norio Niikawa

in Human Molecular Genetics

Volume 5, issue 8, pages 1155-1161
Published in print August 1996 | ISSN: 0964-6906
Published online August 1996 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/5.8.1155
Mouse/Human Sequence Divergence in a Region with a Paternal-Specific Methylation Imprint at the Human H19 Locus

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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.

Journal Article.  5518 words.  Illustrated.

Subjects: Genetics and Genomics

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