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Reproductive and Transgenerational Epigenetics

Section information

Section Editor: Eamonn Maher

Associate Editors: Miguel Constancia, Gavin Kelsey

Epigenetic processes play a significant role in prenatal and perinatal development. The regulation of developmental epigenetic programming is determined by the establishment and maintenance of epigenetic marks in germ cells and in embryonic/foetal life. Epigenetic developmental disorders may result from environmental factors that disturb these processes during (e.g., spermatogenesis and in vitro fertilization). Moreover, there is increasing interest in the role of transgenerational effects on the fetal epigenome (e.g. environmental exposures in grandparents). This section welcomes submissions investigating the molecular basis of epigenome regulation in germ cells and prenatal development (e.g., genomic imprinting), genetic and environmental factors contributing to the pathogenesis of epigenetic developmental disorders as well as the clinical consequences are considered if insights are provided in disordered epigenetic regulation in germ cells and/or during early development.

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  1. The human chromosome 14q32.2 imprinted region harbors the primary MEG3/DLK1:IG-differentially methylated region (DMR) and secondary MEG3:TSS-DMR. The MEG3:TSS-DMR can remain unmethylated only in the presence of u...

    Authors: Masayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, Kentaro Matsuoka, Akie Nakamura, Keiko Matsubara, Kazuhiko Nakabayashi, Shuji Takada, Maki Fukami and Tsutomu Ogata

    Citation: Clinical Epigenetics 2019 11:42

    Content type: Short report

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  2. Human 15q11–13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These ...

    Authors: Keiko Matsubara, Masatsune Itoh, Kenji Shimizu, Shinji Saito, Keisuke Enomoto, Kazuhiko Nakabayashi, Kenichiro Hata, Kenji Kurosawa, Tsutomu Ogata, Maki Fukami and Masayo Kagami

    Citation: Clinical Epigenetics 2019 11:36

    Content type: Short report

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  3. Blood-based gene expression or epigenetic biomarkers of Parkinson’s disease (PD) are highly desirable. However, accuracy and specificity need to be improved, and methods for the integration of gene expression ...

    Authors: Changliang Wang, Liang Chen, Yang Yang, Menglei Zhang and Garry Wong

    Citation: Clinical Epigenetics 2019 11:24

    Content type: Research

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  4. Multiple epigenome-wide association studies have been performed to identify DNA methylation patterns regulated by aging or correlated with risk of death. However, the inter-relatedness of the epigenetic basis ...

    Authors: Jesper Beltoft Lund, Shuxia Li, Jan Baumbach, Anne Marie Svane, Jacob Hjelmborg, Lene Christiansen, Kaare Christensen, Paul Redmond, Riccardo E. Marioni, Ian J. Deary and Qihua Tan

    Citation: Clinical Epigenetics 2019 11:23

    Content type: Research

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  5. Differentiation of induced pluripotent stem cells (iPSCs) toward hematopoietic progenitor cells (HPCs) raises high hopes for disease modeling, drug screening, and cellular therapy. Various differentiation prot...

    Authors: Olivia Cypris, Joana Frobel, Shivam Rai, Julia Franzen, Stephanie Sontag, Roman Goetzke, Marcelo A. Szymanski de Toledo, Martin Zenke and Wolfgang Wagner

    Citation: Clinical Epigenetics 2019 11:19

    Content type: Research

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  6. Children prenatally exposed to maternal depression more often show behavioral and emotional problems compared to unexposed children, possibly through epigenetic alterations. Current evidence is largely based o...

    Authors: Laura S. Bleker, Jeannette Milgrom, Alexandra Sexton-Oates, Tessa J. Roseboom, Alan W. Gemmill, Christopher J. Holt, Richard Saffery, Huibert Burger and Susanne R. de Rooij

    Citation: Clinical Epigenetics 2019 11:18

    Content type: Short report

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  7. Neural tube defects (NTDs) are complex abnormalities associated with gene-environment interactions. The underlying cause has not been determined.

    Authors: Henan Zhang, Yi Guo, Hui Gu, Xiaowei Wei, Wei Ma, Dan Liu, Kun Yu, Wenting Luo, Ling Ma, Yusi Liu, Jia Xue, Jieting Huang, Yanfu Wang, Shanshan Jia, Naixuan Dong, Hongyan Wang…

    Citation: Clinical Epigenetics 2019 11:17

    Content type: Research

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  8. Epigenetic clocks may increase our understanding on human aging and how genetic and environmental factors regulate an individual aging process. One of the most promising clocks is Horvath’s DNA methylation (DN...

    Authors: Elina Sillanpää, Miina Ollikainen, Jaakko Kaprio, Xiaoling Wang, Tuija Leskinen, Urho M. Kujala and Timo Törmäkangas

    Citation: Clinical Epigenetics 2019 11:12

    Content type: Research

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  9. Age-related macular degeneration (AMD) is a degenerative disorder of the central retina and the foremost cause of blindness. The retinal pigment epithelium (RPE) is a primary site of disease pathogenesis. The ...

    Authors: Louise F. Porter, Neil Saptarshi, Yongxiang Fang, Sonika Rathi, Anneke I. den Hollander, Eiko K. de Jong, Simon J. Clark, Paul N. Bishop, Timothy W. Olsen, Triantafillos Liloglou, Venkata R. M. Chavali and Luminita Paraoan

    Citation: Clinical Epigenetics 2019 11:6

    Content type: Research

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  10. Psoriasis (Ps) is a common chronic inflammatory skin disease. The keratinocytes of psoriatic skin defy normal apoptosis and exhibit active cell proliferation. Aberrant DNA methylation (DNAm) has been suggested...

    Authors: Changbing Shen, Leilei Wen, Randy Ko, Jing Gao, Xue Shen, Xianbo Zuo, Liangdan Sun, Yi-Hsiang Hsu, Xuejun Zhang, Yong Cui, Meng Wang and Fusheng Zhou

    Citation: Clinical Epigenetics 2018 10:160

    Content type: Short report

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  11. Accelerated age-associated DNA methylation changes in males may explain the earlier onset of age-related diseases (e.g., cardiovascular disease (CVD)) and thus contribute to sexually dimorphic morbidity and li...

    Authors: Fu-Hui Xiao, Xiao-Qiong Chen, Yong-Han He and Qing-Peng Kong

    Citation: Clinical Epigenetics 2018 10:133

    Content type: Short report

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  12. Adiponectin critically contributes to metabolic homeostasis, especially by insulin-sensitizing action. Gestational diabetes mellitus (GDM) is characterized by insulin resistance leading to materno-fetal hyperg...

    Authors: Raffael Ott, Jens H. Stupin, Kerstin Melchior, Karen Schellong, Thomas Ziska, Joachim W. Dudenhausen, Wolfgang Henrich, Rebecca C. Rancourt and Andreas Plagemann

    Citation: Clinical Epigenetics 2018 10:131

    Content type: Research

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  13. Testicular germ cell tumor such as seminoma is strongly associated with male reproductive problems commonly associated with the alteration of sperm parameters as described in testicular dysgenesis syndrome. In...

    Authors: Céline Bruno, Oxana Blagoskonov, Julie Barberet, Magali Guilleman, Sandrine Daniel, Benjamin Tournier, Christine Binquet, Cécile Choux and Patricia Fauque

    Citation: Clinical Epigenetics 2018 10:125

    Content type: Research

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  14. Estrogen receptor-α (ER-α) is a transcriptional regulator, which mediates estrogen-dependent breast development, as well as breast tumorigenesis. The influence of epigenetic regulation of ER-α on adolescent br...

    Authors: Alexandra M Binder, Leah T Stiemsma, Kristen Keller, Sanne D van Otterdijk, Verónica Mericq, Ana Pereira, José L Santos, John Shepherd and Karin B Michels

    Citation: Clinical Epigenetics 2018 10:122

    Content type: Research

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  15. Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 impr...

    Authors: Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk…

    Citation: Clinical Epigenetics 2018 10:114

    Content type: Research

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  16. The biological mechanisms underlying frailty in older people are poorly understood. There is some evidence to suggest that DNA methylation patterns may be altered in frail individuals.

    Authors: Catharine R. Gale, Riccardo E. Marioni, Sarah E. Harris, John M. Starr and Ian J. Deary

    Citation: Clinical Epigenetics 2018 10:101

    Content type: Short report

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  17. Constitutive methylation of tumor suppressor genes are associated with increased cancer risk. However, to date, the question of epimutational transmission of these genes remains unresolved. Here, we studied th...

    Authors: Nisreen Al-Moghrabi, Maram Al-Showimi, Nujoud Al-Yousef, Bushra Al-Shahrani, Bedri Karakas, Lamyaa Alghofaili, Hannah Almubarak, Safia Madkhali and Hind Al Humaidan

    Citation: Clinical Epigenetics 2018 10:99

    Content type: Research

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  18. Molecular aging biomarkers, such as epigenetic age predictors, predict risk factors of premature aging, and morbidity/mortality more accurately than chronological age in middle-aged and elderly populations. Ye...

    Authors: Anna Suarez, Jari Lahti, Darina Czamara, Marius Lahti-Pulkkinen, Polina Girchenko, Sture Andersson, Timo E. Strandberg, Rebecca M. Reynolds, Eero Kajantie, Elisabeth B. Binder and Katri Raikkonen

    Citation: Clinical Epigenetics 2018 10:96

    Content type: Research

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  19. Investigating how epigenetic information is transmitted through the mammalian germline is the key to understanding how this information impacts on health and disease susceptibility in offspring. EED is essenti...

    Authors: Lexie Prokopuk, Jessica M. Stringer, Craig R. White, Rolf H. A. M. Vossen, Stefan J. White, Ana S. A. Cohen, William T. Gibson and Patrick S. Western

    Citation: Clinical Epigenetics 2018 10:95

    Content type: Research

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  20. This study assessed the associations between nine differentially methylated regions (DMRs) of imprinted genes in DNA derived from umbilical cord blood leukocytes in males and females and (1) birth weight for g...

    Authors: Sarah Gonzalez-Nahm, Michelle A. Mendez, Sara E. Benjamin-Neelon, Susan K. Murphy, Vijaya K. Hogan, Diane L. Rowley and Cathrine Hoyo

    Citation: Clinical Epigenetics 2018 10:90

    Content type: Research

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  21. Gestational age at delivery is associated with health and social outcomes. Recently, cord blood DNA methylation data has been used to predict gestational age. The discrepancy between gestational age predicted ...

    Authors: Jasmine N. Khouja, Andrew J. Simpkin, Linda M. O’Keeffe, Kaitlin H. Wade, Lotte C. Houtepen, Caroline L. Relton, Matthew Suderman and Laura D. Howe

    Citation: Clinical Epigenetics 2018 10:86

    Content type: Research

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  22. Assisted reproductive technology (ART) has been associated with low birth weight of fresh embryo transfer (FRESH) derived and increased birth weight of frozen embryo transfer (FET)-derived newborns. Owing to t...

    Authors: Heidi Marjonen, Pauliina Auvinen, Hanna Kahila, Olga Tšuiko, Sulev Kõks, Airi Tiirats, Triin Viltrop, Timo Tuuri, Viveca Söderström-Anttila, Anne-Maria Suikkari, Andres Salumets, Aila Tiitinen and Nina Kaminen-Ahola

    Citation: Clinical Epigenetics 2018 10:80

    Content type: Research

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  23. An increased incidence of imprint-associated disorders has been reported in babies born from assisted reproductive technology (ART). However, previous studies supporting an association between ART and an alter...

    Authors: D. Gentilini, E. Somigliana, L. Pagliardini, E. Rabellotti, P. Garagnani, L. Bernardinelli, E. Papaleo, M. Candiani, A. M. Di Blasio and P. Viganò

    Citation: Clinical Epigenetics 2018 10:77

    Content type: Research

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  24. Transplantation of human hematopoietic stem cells into immunodeficient mice provides a powerful in vivo model system to gain functional insights into hematopoietic differentiation. So far, it remains unclear i...

    Authors: Joana Frobel, Susann Rahmig, Julia Franzen, Claudia Waskow and Wolfgang Wagner

    Citation: Clinical Epigenetics 2018 10:67

    Content type: Short report

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  25. The changes that occur during puberty have been implicated in susceptibility to a wide range of diseases later in life, many of which are characterized by sex-specific differences in prevalence. Both genetic a...

    Authors: Emma E. Thompson, Jessie Nicodemus-Johnson, Kyung Won Kim, James E. Gern, Daniel J. Jackson, Robert F. Lemanske and Carole Ober

    Citation: Clinical Epigenetics 2018 10:62

    Content type: Research

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  26. The etiology and pathogenesis of pre-eclampsia (PE) is unclear, and there is no ideal early clinical biomarker for prediction of PE. The competing endogenous RNA (ceRNA) hypothesis is a new approach to uncover...

    Authors: Xiaopeng Hu, Junping Ao, Xinyue Li, Huijuan Zhang, Ji Wu and Weiwei Cheng

    Citation: Clinical Epigenetics 2018 10:48

    Content type: Research

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  27. Fibroblast growth factor receptor 2 (FGFR2) gene encodes a protein of the fibroblast growth factor receptor family. FGFR2 gene expression is associated with the regulation of implantation process of placenta whic...

    Authors: Fu-Ying Tian, Xi-Meng Wang, Chuanbo Xie, Bo Zhao, Zhongzheng Niu, Lijun Fan, Marie-France Hivert and Wei-Qing Chen

    Citation: Clinical Epigenetics 2018 10:39

    Content type: Research

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  28. 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in...

    Authors: Giulia F. Del Gobbo, E. Magda Price, Courtney W. Hanna and Wendy P. Robinson

    Citation: Clinical Epigenetics 2018 10:34

    Content type: Research

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  29. Preeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. We hypothesized that this heterogeneity is due to the existence of multiple subtypes...

    Authors: Katherine Leavey, Samantha L. Wilson, Shannon A. Bainbridge, Wendy P. Robinson and Brian J. Cox

    Citation: Clinical Epigenetics 2018 10:28

    Content type: Research

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  30. Uniparental disomy of certain chromosomes are associated with a group of well-known genetic syndromes referred to as imprinting disorders. However, the extreme form of uniparental disomy affecting the whole ge...

    Authors: Susanne Bens, Manuel Luedeke, Tanja Richter, Melanie Graf, Julia Kolarova, Gotthold Barbi, Krisztian Lato, Thomas F. Barth and Reiner Siebert

    Citation: Clinical Epigenetics 2017 9:111

    Content type: Research

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  31. Werner syndrome is a progeroid disorder characterized by premature age-related phenotypes. Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome,...

    Authors: T. Guastafierro, M. G. Bacalini, A. Marcoccia, D. Gentilini, S. Pisoni, A. M. Di Blasio, A. Corsi, C. Franceschi, D. Raimondo, A. Spanò, P. Garagnani and F. Bondanini

    Citation: Clinical Epigenetics 2017 9:92

    Content type: Short report

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  32. Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder frequently associated with heterozygous loss-of-function mutations of Nipped-B-like (NIPBL), the human homolog of Drosophila Nipped-B. NIP...

    Authors: Daniel A. Newkirk, Yen-Yun Chen, Richard Chien, Weihua Zeng, Jacob Biesinger, Ebony Flowers, Shimako Kawauchi, Rosaysela Santos, Anne L. Calof, Arthur D. Lander, Xiaohui Xie and Kyoko Yokomori

    Citation: Clinical Epigenetics 2017 9:89

    Content type: Research

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  33. Epidemiological studies have shown that long-term exposure to paracetamol during pregnancy is associated with attention-deficit/hyperactivity disorder (ADHD). The mechanism by which paracetamol may modulate th...

    Authors: Kristina Gervin, Hedvig Nordeng, Eivind Ystrom, Ted Reichborn-Kjennerud and Robert Lyle

    Citation: Clinical Epigenetics 2017 9:77

    Content type: Research

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  34. Cord blood is a commonly used tissue in environmental, genetic, and epigenetic population studies due to its ready availability and potential to inform on a sensitive period of human development. However, the ...

    Authors: Alexander M. Morin, Evan Gatev, Lisa M. McEwen, Julia L. MacIsaac, David T. S. Lin, Nastassja Koen, Darina Czamara, Katri Räikkönen, Heather J. Zar, Karestan Koenen, Dan J. Stein, Michael S. Kobor and Meaghan J. Jones

    Citation: Clinical Epigenetics 2017 9:75

    Content type: Methodology

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  35. Epigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environm...

    Authors: Gemma C. Sharp, Karen Ho, Amy Davies, Evie Stergiakouli, Kerry Humphries, Wendy McArdle, Jonathan Sandy, George Davey Smith, Sarah J. Lewis and Caroline L. Relton

    Citation: Clinical Epigenetics 2017 9:63

    Content type: Research

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  36. Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defect...

    Authors: Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami…

    Citation: Clinical Epigenetics 2017 9:52

    Content type: Short report

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  37. A recent study has shown that it is possible to accurately estimate gestational age (GA) at birth from the DNA methylation (DNAm) of fetal umbilical cord blood/newborn blood spots. This DNAm GA predictor may p...

    Authors: Polina Girchenko, Jari Lahti, Darina Czamara, Anna K. Knight, Meaghan J. Jones, Anna Suarez, Esa Hämäläinen, Eero Kajantie, Hannele Laivuori, Pia M. Villa, Rebecca M. Reynolds, Michael S. Kobor, Alicia K. Smith, Elisabeth B. Binder and Katri Räikkönen

    Citation: Clinical Epigenetics 2017 9:49

    Content type: Short report

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  38. We analyzed placental DNA methylation levels at repeated sequences (LINE1 elements) and all CCGG sites (the LUMA assay) to study the effect of modifiable clinical or laboratory procedures involved in in vitro fer...

    Authors: Jayashri Ghosh, Christos Coutifaris, Carmen Sapienza and Monica Mainigi

    Citation: Clinical Epigenetics 2017 9:14

    Content type: Research

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  39. There is a growing interest in simple molecular biomarkers for biological aging. Age-associated DNA methylation (DNAm) changes at specific CG dinucleotides can be combined into epigenetic age predictors to est...

    Authors: Yan Zhang, Jan Hapala, Hermann Brenner and Wolfgang Wagner

    Citation: Clinical Epigenetics 2017 9:9

    Content type: Short Report

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  40. Epigenetic modifications of the fragile X mental retardation 1 (FMR1) gene locus may impact the risk for reproductive and neurological disorders associated with expanded trinucleotide repeats and methylation stat...

    Authors: Andrew G. Hadd, Stela Filipovic-Sadic, Lili Zhou, Arianna Williams, Gary J. Latham, Elizabeth Berry-Kravis and Deborah A. Hall

    Citation: Clinical Epigenetics 2016 8:130

    Content type: Short report

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  41. Both higher and lower fetal growth are associated with cardio-metabolic health later in life, suggesting that prenatal developmental programming determines long-term cardiovascular disease risk. Epigenetic mec...

    Authors: Golareh Agha, Hanine Hajj, Sheryl L. Rifas-Shiman, Allan C. Just, Marie-France Hivert, Heather H. Burris, Xihong Lin, Augusto A. Litonjua, Emily Oken, Dawn L. DeMeo, Matthew W. Gillman and Andrea A. Baccarelli

    Citation: Clinical Epigenetics 2016 8:118

    Content type: Research

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  42. Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder caused by heterozygous point mutations or genomic deletions involving FOXF1 or its 60-kb tis...

    Authors: Przemyslaw Szafranski, Carmen Herrera, Lori A. Proe, Brittany Coffman, Debra L. Kearney, Edwina Popek and Paweł Stankiewicz

    Citation: Clinical Epigenetics 2016 8:112

    Content type: Short report

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  43. Several studies have reported age-associated changes in DNA methylation in the first few years of life and in adult populations, but the extent of such changes during childhood is less well studied. The goals ...

    Authors: Kristina Gervin, Bettina Kulle Andreassen, Hanne Sagsveen Hjorthaug, Karin C. Lødrup Carlsen, Kai-Håkon Carlsen, Dag Erik Undlien, Robert Lyle and Monica Cheng Munthe-Kaas

    Citation: Clinical Epigenetics 2016 8:110

    Content type: Research

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  44. Our recent study demonstrated that DNA methylation status in a set of CpGs located in ELOVL2, C1orf132, TRIM59, KLF14, and FHL2 can accurately predict calendar age in blood. In the present work, we used these mar...

    Authors: Magdalena Spólnicka, Renata Zbieć Piekarska, Emilia Jaskuła, Grzegorz W. Basak, Renata Jacewicz, Agnieszka Pięta, Żanetta Makowska, Maciej Jedrzejczyk, Agnieszka Wierzbowska, Agnieszka Pluta, Tadeusz Robak, Jarosław Berent, Wojciech Branicki, Wiesław Jędrzejczak, Andrzej Lange and Rafał Płoski

    Citation: Clinical Epigenetics 2016 8:93

    Content type: Letter to the Editor

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    The Erratum to this article has been published in Clinical Epigenetics 2016 8:121

  45. Intrauterine growth restriction (IUGR), which refers to reduced fetal growth in the context of placental insufficiency, is etiologically heterogeneous. IUGR is associated not only with perinatal morbidity and ...

    Authors: Maian Roifman, Sanaa Choufani, Andrei L. Turinsky, Sascha Drewlo, Sarah Keating, Michael Brudno, John Kingdom and Rosanna Weksberg

    Citation: Clinical Epigenetics 2016 8:70

    Content type: Research

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  46. The overgrowth-associated Beckwith-Wiedemann syndrome (BWS) and the undergrowth-associated Silver-Russell syndrome (SRS) are characterized by heterogeneous molecular defects affecting a large imprinted gene cl...

    Authors: Susanne Eriksen Boonen, Andrea Freschi, Rikke Christensen, Federica Maria Valente, Dorte Launholt Lildballe, Lucia Perone, Orazio Palumbo, Massimo Carella, Niels Uldbjerg, Angela Sparago, Andrea Riccio and Flavia Cerrato

    Citation: Clinical Epigenetics 2016 8:69

    Content type: Short report

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