Special Issue "DNA Modifications and Their Alterations in Disease"

A special issue of Biology (ISSN 2079-7737).

Deadline for manuscript submissions: 30 November 2019

Special Issue Editors

Guest Editor
Dr. Claire FRANCASTEL

Epigenetics and Cell Fate, Université de Paris, CNRS, Bâtiment Lamarck B, Case Courrier 7042, 35 rue Hélène Brion, 75013 Paris, France
Website | E-Mail
Interests: epigenetics; non-coding RNAs; nuclear organization; gene expression; splicing; cellular differentiation; rare genetic diseases
Guest Editor
Dr. Guillaume VéLASCO

Epigenetics and Cell Fate, Université de Paris; CNRS ; Bâtiment Lamarck B, Case Courrier 7042, 35 rue Hélène Brion, 75013 Paris, France
Website | E-Mail
Interests: DNA methylation; chromatin; gene expression; germ line genes; repetitive elements; ICF syndrome

Special Issue Information

Dear Colleagues,

The methylation of cytosines (5mC) is an epigenetic modification of DNA to which major roles have been assigned, including the maintenance of genome stability, stable silencing of genes and repetitive elements, and establishment of genomic imprints. This process is essential for the healthy development of higher eukaryotes, and deviations from normal 5mC levels and patterns are hallmarks for many human diseases.

Major breakthroughs have marked the last four decades of DNA modification studies, including the identification of enzymes with de novo or maintenance DNA methyltransferase (DNMT) activities, methyl CpG DNA-binding domain proteins (MBDs) that interpret DNA modifications and convey epigenetic information, and long-sought demethylase activity/mechanisms. Active demethylation, at least in part, results from the action of ten-eleven translocation (TET) enzymes that oxidize 5-methyl into 5-hydroxymethylcytosine (5hmC) via various intermediates whose stability and function as genuine epigenetic marks is still being debated. Alternatively, demethylation can occur through various DNA repair mechanisms. Another important issue is the non-random nature of DNA modification profiles, implying that their machineries are guided toward specific genomic locations through various mechanisms that involve the genomic context, histone modifications, transcription factors, or small regulatory RNAs.

The tremendous progress in high-throughput technologies have enabled mapping of DNA modification profiles at the scale of entire genomes in various cellular contexts, tissues, and stages of development in both animal models and in patients’ cells, and have allowed for the identification of mutations in factors not previously suspected to have functional links with DNA modifications—this has contributed tremendously to revitalizing the field and broadening the scope of both fundamental and translational research efforts.

For this Special Issue, we welcome research and review articles that contribute to deepening our knowledge of when and how DNA modifications are established and maintained, the factors involved, and the consequences of alterations in the context of developmental defects or emergence of diseases.

Dr. Claire FRANCASTEL
Dr. Guillaume VéLASCO
Guest Editors

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 papers will be 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. Biology is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 650 CHF (Swiss Francs). 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

  • DNA methylation
  • methylcytosine
  • hydroxymethylcytosine
  • (hydroxy)methylome
  • histone modifications
  • transcriptome
  • development
  • complex diseases
  • rare genetic diseases

Published Papers

This special issue is now open for submission.
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