Aging, development, imprinting and reproductive epigenetics

Section information

Section edited by Monika Puzianowska-Kuznicka, Akihiro Umezawa and Wolfgang Wagner

Developmental processes are governed by epigenetics and there is a growing evidence that this applies also to aging of the organism. Furthermore, genomic imprinting, the epigenetic phenomenon reducing expression of certain genes to either maternal or paternal alleles, as well as epigenetics in reproductive medicine are of increasing relevance. Likewise, epigenetic factors in prenatal and postnatal development as well as later in life significantly contribute to the rate and phenotype of aging. This section covers the full breadth of these interdisciplinary research areas. It aims for outstanding original contributions, which provide novel and sound insight into the underlying mechanisms of development and aging. Description of biomarkers or resource paper can also be considered if they significantly advance the field. Epigenetic raw data should be deposited in public data repositories. Studies on non-human model systems can also be considered if they provide insight into relevant epigenetic processes.

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  1. Research

    Mosaic genome-wide maternal isodiploidy: an extreme form of imprinting disorder presenting as prenatal diagnostic challenge

    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...

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

    Clinical Epigenetics 2017 9:111

    Published on: 13 October 2017

  2. Short report

    Genome-wide DNA methylation analysis in blood cells from patients with Werner syndrome

    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,...

    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

    Clinical Epigenetics 2017 9:92

    Published on: 30 August 2017

  3. Research

    The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome

    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...

    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

    Clinical Epigenetics 2017 9:89

    Published on: 25 August 2017

  4. Research

    Long-term prenatal exposure to paracetamol is associated with DNA methylation differences in children diagnosed with ADHD

    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...

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

    Clinical Epigenetics 2017 9:77

    Published on: 2 August 2017

  5. Methodology

    Maternal blood contamination of collected cord blood can be identified using DNA methylation at three CpGs

    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 ...

    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

    Clinical Epigenetics 2017 9:75

    Published on: 25 July 2017

  6. Research

    Distinct DNA methylation profiles in subtypes of orofacial cleft

    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...

    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

    Clinical Epigenetics 2017 9:63

    Published on: 8 June 2017

  7. Short report

    Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

    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...

    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…

    Clinical Epigenetics 2017 9:52

    Published on: 15 May 2017

  8. Short report

    Associations between maternal risk factors of adverse pregnancy and birth outcomes and the offspring epigenetic clock of gestational age at birth

    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...

    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

    Clinical Epigenetics 2017 9:49

    Published on: 8 May 2017

  9. Short report

    A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

    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...

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

    Clinical Epigenetics 2016 8:130

    Published on: 1 December 2016

  10. Research

    Birth weight-for-gestational age is associated with DNA methylation at birth and in childhood

    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...

    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

    Clinical Epigenetics 2016 8:118

    Published on: 16 November 2016

  11. Short report

    Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV

    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...

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

    Clinical Epigenetics 2016 8:112

    Published on: 3 November 2016

  12. Research

    Intra-individual changes in DNA methylation not mediated by cell-type composition are correlated with aging during childhood

    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 ...

    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

    Clinical Epigenetics 2016 8:110

    Published on: 21 October 2016

  13. Letter to the Editor

    Donor age and C1orf132/MIR29B2C determine age-related methylation signature of blood after allogeneic hematopoietic stem cell transplantation

    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...

    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

    Clinical Epigenetics 2016 8:93

    Published on: 6 September 2016

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

  14. Research

    Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction

    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 ...

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

    Clinical Epigenetics 2016 8:70

    Published on: 21 June 2016

  15. Short report

    Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes

    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...

    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

    Clinical Epigenetics 2016 8:69

    Published on: 16 June 2016

  16. Research

    Amnion as a surrogate tissue reporter of the effects of maternal preeclampsia on the fetus

    Preeclampsia, traditionally characterized by high blood pressure and proteinuria, is a common pregnancy complication, which affects 2–8 % of all pregnancies. Although children born to women with preeclampsia h...

    Masako Suzuki, Ryo Maekawa, Nicole E. Patterson, David M. Reynolds, Brent R. Calder, Sandra E. Reznik, Hye J. Heo, Francine Hughes Einstein and John M. Greally

    Clinical Epigenetics 2016 8:67

    Published on: 10 June 2016

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