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Special Issue "Epigenetic Regulation in Human Disease"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 October 2023 | Viewed by 520

Special Issue Editor

Genome Diagnostics Laboratory, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
Interests: clinical epigenetics (diagnostic and prognostic epi-signatures); EWAS; epigenetic editing (dCAS); epigenetics and machine learning; single-cell analyses
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Epigenetics comprises crucial mechanisms governing chromatin architecture and genome stability. In addition, these epigenetic mechanisms, in turn, regulate the expression of genes in different settings, such as in early development and cell differentiation, in response to environmental (external) factors or in response to/interaction with genetic (internal) variation. The epigenome is thus a highly dynamic regulatory system, and over the last decade the scientific interest in this field has increased tremendously. DNA methylation and histone modifications are, to date, the most commonly studied epigenetic features. Epigenetic regulation is controlled by a complex system of proteins involving epigenetic writers, readers, remodelers, and erasers. Genetic variation in genes encoding for such proteins often leads to severe diseases or syndromes. In many cases, specific epigenetic signatures are associated with particularly rare Mendelian disorders. Since the epigenome can be affected by external and environmental factors, it may also be associated with other classes of disease, including neuro-degenerative diseases, autoimmune diseases, cancer, and non-communicable as well as multi-factorial diseases. Recent progress in statistical methodologies, e.g., machine learning, network analysis, (integrative) multi-omics analyses, and other translational research (e.g., dCAS-based epigenetic editing), has paved the way towards a deeper understanding of the regulatory role of epigenetics within the pathophysiology of disease. In this Special Issue we invite you to submit an original research report or review article deciphering the role of the regulatory mechanism(s) of epigenetics in relation to disease and malignancies, (early) development, aging, or differentiation.

Dr. Peter Henneman
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • epigenetics
  • integrative analysis
  • regulatory mechanism
  • multi-omics
  • chromatin

Published Papers (1 paper)

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Research

Communication
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature
Int. J. Mol. Sci. 2023, 24(18), 14240; https://doi.org/10.3390/ijms241814240 - 18 Sep 2023
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Abstract
JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. JARID2 acts as a transcriptional repressor protein that is involved [...] Read more.
JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by intellectual disability, developmental delay, autistic features, behavior abnormalities, cognitive impairment, hypotonia, and dysmorphic features. JARID2 acts as a transcriptional repressor protein that is involved in the regulation of histone methyltransferase complexes. JARID2 plays a role in the epigenetic machinery, and the associated syndrome has an identified DNA methylation episignature derived from sequence variants and intragenic deletions involving JARID2. For this study, our aim was to determine whether patients with larger deletions spanning beyond JARID2 present a similar DNA methylation episignature and to define the critical region involved in aberrant DNA methylation in 6p22–p24 microdeletions. We examined the DNA methylation profiles of peripheral blood from 56 control subjects, 13 patients with (likely) pathogenic JARID2 variants or patients carrying copy number variants, and three patients with JARID2 VUS variants. The analysis showed a distinct and strong differentiation between patients with (likely) pathogenic variants, both sequence and copy number, and controls. Using the identified episignature, we developed a binary model to classify patients with the JARID2-neurodevelopmental syndrome. DNA methylation analysis indicated that JARID2 is the driver gene for aberrant DNA methylation observed in 6p22–p24 microdeletions. In addition, we performed analysis of functional correlation of the JARID2 genome-wide methylation profile with the DNA methylation profiles of 56 additional neurodevelopmental disorders. To conclude, we refined the critical region for the presence of the JARID2 episignature in 6p22–p24 microdeletions and provide insight into the functional changes in the epigenome observed when regulation by JARID2 is lost. Full article
(This article belongs to the Special Issue Epigenetic Regulation in Human Disease)
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