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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

Abstract

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.”

Keywords

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

List of Abbreviations

ART

Assisted reproductive technology

AS

Angelman syndrome

BWS

Beckwith–Wiedemann syndrome

CGIs

CpG islands

DOHaD

Developmental origins of health and disease

gDMR

Germline differentially methylated region

ICR

Imprinting control region

ICSI

Intracytoplasmic sperm injection

IVF

In vitro fertilization

mgDMR

Maternally methylated gDMR

PIH

Pregnancy-induced hypertension

PCR

Polymerase chain reaction

pgDMR

Paternally methylated gDMR

PWS

Prader–Willi syndrome

SRS

Silver–Russell syndrome

TET

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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