Epigenetic mark sequence of the H19 gene in human sperm

Toshio Hamatani, Hiroyuki Sasaki, Ko Ishihara, Naoko Hida, Tetsuo Maruyama, Yasunori Yoshimura, Jun ichi Hata, Akihiro Umezawa

研究成果: Article査読

13 被引用数 (Scopus)

抄録

We have investigated the epigenetic mark in the human H19 gene. The H19 promoter is methylation-free in human sperm, but it is methylated in the paternally derived allele of most adult tissues. Consequently, the H19 gene is exclusively transcribed from the maternal allele. It was demonstrated that the differentially methylated region (DMR) located 2 kb upstream from mouse H19 is essential for the imprinting of H19. A 39 bp sequence in DMR has a high degree of similarity between humans, mice and rats. The highly conserved 15 bp core region of the consensus sequence contains four methylatable sites, and thus has been proposed as a potential imprinting mark region. In this study, fine epigenetic sequencing analysis was performed on the sperm DNA in comparison with other adult organs. Interestingly, the conserved sequence of the potential mark region was methylated in almost all the sperm genomes analyzed. Furthermore, the single dinucleotide CpG, whose methylation affects the accessibility of the element to CTCF, was methylated in the conserved core in the human sperm. These results suggest that the human core sequences may act as an imprinting center in the reciprocal monoallelic expression of H19.

本文言語English
ページ(範囲)137-144
ページ数8
ジャーナルBiochimica et Biophysica Acta - Gene Structure and Expression
1518
1-2
DOI
出版ステータスPublished - 2001 3 19

ASJC Scopus subject areas

  • 構造生物学
  • 生物理学
  • 生化学
  • 遺伝学

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