Epigenetic alterations in human sperm

Naoko Miyauchi, Akane Kitamura, Hitoshi Hiura, Hiroaki Okae, Norio Kobayashi, Hiromitsu Hattori, Souta Takahashi, Takahiro Arima

Research output: Chapter in Book/Report/Conference proceedingChapter


The concept called developmental origins of health and disease (DOHaD) pays attention to the environmental influence on the fetus in utero (maternal side). However, individual mammals originate from the oocyte and sperm. Sperm are more susceptible to genetic and epigenetic mutations than oocytes because of the multistep germ cell meiosis during spermatogenesis (paternal side). DNA methylation might be influenced by external environmental factors such as endocrine disruptors, certain foods, and drug exposures during gametogenesis. In aged men these factors accumulate and affect the quality of sperm. Recent work identified sperm from men of advanced aged as a risk factor for autism, depression, epilepsy, and some kinds of cancer in children. In this chapter, we introduce the concept that methylation errors of paternal sperm may lead to congenital disease and various diseases later in life, and we would like to suggest the "expanded DOHaD hypothesis."

Original languageEnglish
Title of host publicationHandbook of Nutrition, Diet, and Epigenetics
PublisherSpringer International Publishing
Number of pages16
ISBN (Electronic)9783319555300
ISBN (Print)9783319555294
Publication statusPublished - 2019 Jan 5


  • ART (assisted reproductive technology)
  • DNA methylation
  • DOHaD (Developmental origins of health and disease)
  • Genomic imprinting
  • Human sperm
  • Imprinting disorders
  • Transgenerational effect

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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