Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes

Kei Fukuda, Kenji Ichiyanagi, Yoichi Yamada, Yasuhiro Go, Toshifumi Udono, Seitaro Wada, Toshiyuki Maeda, Hidenobu Soejima, Naruya Saitou, Takashi Ito, Hiroyuki Sasaki

    研究成果: Contribution to journalArticle査読

    19 被引用数 (Scopus)

    抄録

    Changes in gene expression have been proposed to have an important role in the evolutionary changes in phenotypes. Interspecific changes in gene expression can result not only from genetic changes in regulatory regions but also from epigenetic changes in such regions. Here we report the identification of genomic regions showing differences in DNA methylation between humans and chimpanzees (termed S-DMRs for species-specific differentially methylated regions) on chromosomes 21 and 22. These regional methylation differences are frequently associated with genes, including those relevant to a disease, such as Alzheimer's disease, diabetes mellitus or cancer. Methylation differences are often correlated with changes in promoter activity or alternative splicing. Comparative studies including other great ape species provide evidence for the contribution of genetic changes to some of these S-DMRs. Genetic changes responsible for the S-DMRs include gain or loss of CTCF-binding site and changes in CpG density in microsatellite repeats. Our results suggest that DNA methylation changes, often caused by small sequence changes, contribute to transcriptional and phenotypic diversification in hominid evolution.

    本文言語英語
    ページ(範囲)446-454
    ページ数9
    ジャーナルJournal of Human Genetics
    58
    7
    DOI
    出版ステータス出版済み - 7 2013

    All Science Journal Classification (ASJC) codes

    • 遺伝学
    • 遺伝学(臨床)

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