Epigenetic Alterations in Human Sperm

  • Naoko Miyauchi
  • Akane Kitamura
  • Hitoshi Hiura
  • Hiroaki Okae
  • Norio Kobayashi
  • Hiromitsu Hattori
  • Souta Takahashi
  • Takahiro ArimaEmail author
Reference work entry


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.”


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

List of Abbreviations


Assisted reproductive technology


Angelman syndrome


Beckwith–Wiedemann syndrome


CpG islands


Developmental origins of health and disease


Germline differentially methylated region


Imprinting control region


Intracytoplasmic sperm injection


In vitro fertilization


Maternally methylated gDMR


Pregnancy-induced hypertension


Polymerase chain reaction


Paternally methylated gDMR


Prader–Willi syndrome


Silver–Russell syndrome


Ten-eleven translocation


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Naoko Miyauchi
    • 1
  • Akane Kitamura
    • 1
  • Hitoshi Hiura
    • 1
  • Hiroaki Okae
    • 1
  • Norio Kobayashi
    • 1
  • Hiromitsu Hattori
    • 1
  • Souta Takahashi
    • 1
  • Takahiro Arima
    • 1
    Email author
  1. 1.Department of Informative GeneticsTohoku University Graduate School of MedicineAoba-ku, SendaiJapan

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