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

    Research output: Contribution to journalArticle

    14 Citations (Scopus)

    Abstract

    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.

    Original languageEnglish
    Pages (from-to)446-454
    Number of pages9
    JournalJournal of Human Genetics
    Volume58
    Issue number7
    DOIs
    Publication statusPublished - Jul 1 2013

    Fingerprint

    Pan troglodytes
    Hominidae
    DNA Methylation
    Methylation
    Gene Expression
    Chromosomes, Human, Pair 22
    Chromosomes, Human, Pair 21
    Nucleic Acid Regulatory Sequences
    Alternative Splicing
    Epigenomics
    Microsatellite Repeats
    Genes
    Diabetes Mellitus
    Alzheimer Disease
    Binding Sites
    Phenotype
    Neoplasms

    All Science Journal Classification (ASJC) codes

    • Genetics
    • Genetics(clinical)

    Cite this

    Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes. / Fukuda, Kei; Ichiyanagi, Kenji; Yamada, Yoichi; Go, Yasuhiro; Udono, Toshifumi; Wada, Seitaro; Maeda, Toshiyuki; Soejima, Hidenobu; Saitou, Naruya; Ito, Takashi; Sasaki, Hiroyuki.

    In: Journal of Human Genetics, Vol. 58, No. 7, 01.07.2013, p. 446-454.

    Research output: Contribution to journalArticle

    Fukuda, Kei ; Ichiyanagi, Kenji ; Yamada, Yoichi ; Go, Yasuhiro ; Udono, Toshifumi ; Wada, Seitaro ; Maeda, Toshiyuki ; Soejima, Hidenobu ; Saitou, Naruya ; Ito, Takashi ; Sasaki, Hiroyuki. / Regional DNA methylation differences between humans and chimpanzees are associated with genetic changes, transcriptional divergence and disease genes. In: Journal of Human Genetics. 2013 ; Vol. 58, No. 7. pp. 446-454.
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    AU - Udono, Toshifumi

    AU - Wada, Seitaro

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