DNA Modifications and Their Alterations in Disease

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

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