TY - JOUR
T1 - Epigenetic mark sequence of the H19 gene in human sperm
AU - Hamatani, Toshio
AU - Sasaki, Hiroyuki
AU - Ishihara, Ko
AU - Hida, Naoko
AU - Maruyama, Tetsuo
AU - Yoshimura, Yasunori
AU - Hata, Jun ichi
AU - Umezawa, Akihiro
N1 - Funding Information:
The authors wish to thank T. Yoshikawa, M. Okazaki, R. Sakurai, Y. Yamamoto, and N. Sakai (Department of Obstetrics and Gynecology, Keio University School of Medicine) for valuable assistance. Helpful suggestions from M. Fukuma and M. Kishi are also appreciated. This work was supported by a grant from the Ministry of Education, Science and Culture to J.H. and A.U., by Keio University Special Grant-in-Aid for Innovative Collaborative Research Project to J.H. and A.U., by a National Grant-in-Aid for the Establishment of a High-Tech Research Center at Private Universities, by Keio University Grant-in-Aid for Encouragement of Young Medical Scientists to T.H. and by Keio Health Counseling Center to T.H.
PY - 2001/3/19
Y1 - 2001/3/19
N2 - 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.
AB - 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.
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U2 - 10.1016/S0167-4781(01)00190-7
DO - 10.1016/S0167-4781(01)00190-7
M3 - Article
C2 - 11267669
AN - SCOPUS:0035911697
SN - 0167-4781
VL - 1518
SP - 137
EP - 144
JO - Biochimica et Biophysica Acta - Gene Structure and Expression
JF - Biochimica et Biophysica Acta - Gene Structure and Expression
IS - 1-2
ER -