Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication

Nothof, Sophie A; Magdinier, Frédérique; Van-Gils, Julien

doi:10.3390/genes13040639

Cited by 10 publications

(4 citation statements)

References 177 publications

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“…A prime example of a protein cofactor is the chromatinopathy-causing epigene TRRAP , which is considered a histone “writer” cofactor because it binds to chromatin to recruit histone acetyltransferase complexes to a target sites (Murr et al 2007 ; Cogné et al 2019 ; Yin and Wang 2021 ). It is difficult to directly compare our approach to curation used by earlier publications describing chromatinopathy-causing genes due to insufficient description of their curation approach (Berdasco and Esteller 2013 ; Gabriele et al 2018 ; Fahrner and Bjornsson 2019 ; Wilson et al 2022 ; Nothof et al 2022 ). Our list of chromatinopathy-causing epigenes (Table 1 ) creates a valuable resource for the scientific community.…”

Section: Discussionmentioning

confidence: 99%

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

Nava

Arboleda

2023

Hum. Genet.

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The OMICs cascade describes the hierarchical flow of information through biological systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and protein expression of the human genome and governs cellular identity and function. Genes that regulate the epigenome, termed epigenes, orchestrate complex biological signaling programs that drive human development. The broad expression patterns of epigenes during human development mean that pathogenic germline mutations in epigenes can lead to clinically significant multi-system malformations, developmental delay, intellectual disabilities, and stem cell dysfunction. In this review, we refer to germline developmental disorders caused by epigene mutation as “chromatinopathies”. We curated the largest number of human chromatinopathies to date and our expanded approach more than doubled the number of established chromatinopathies to 179 disorders caused by 148 epigenes. Our study revealed that 20.6% (148/720) of epigenes cause at least one chromatinopathy. In this review, we highlight key examples in which OMICs approaches have been applied to chromatinopathy patient biospecimens to identify underlying disease pathogenesis. The rapidly evolving OMICs technologies that couple molecular biology with high-throughput sequencing or proteomics allow us to dissect out the causal mechanisms driving temporal-, cellular-, and tissue-specific expression. Using the full repertoire of data generated by the OMICs cascade to study chromatinopathies will provide invaluable insight into the developmental impact of these epigenes and point toward future precision targets for these rare disorders.

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Section: Discussionmentioning

confidence: 99%

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

Nava

Arboleda

2023

Hum. Genet.

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“…In the process mentioned above, in addition to the members of the TGF-β family (that have different roles, from maintaining the pluripotency of embryonic stem cells to the mesenchymal differentiation) both chromatin organization and epigenome are crucial players. In this review we have decided not to tackle the issue of epigenetic modifications characterizing neuronal development that has been extensively reviewed recently [27,28]. Instead, we have focused on the chromatin structure changes and their relationship with nuclear lamina during neuronal development.…”

Section: Neurogenesis: An Overviewmentioning

confidence: 99%

A Glimpse into Chromatin Organization and Nuclear Lamina Contribution in Neuronal Differentiation

Martino¹,

Carollo²,

Barra³

2023

Preprint

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During embryonic development stem cells undergo the differentiation process so that they can specialise for different functions within the organism. Complex programs of gene transcription are crucial for this process to happen. Epigenetic modifications and the architecture of chromatin in the nucleus, by the formation of specific regions of active as well as inactive chromatin, allow the coordinated regulation of the genes for each cell fate. In this mini review, we discuss the current knowledge regarding the regulation of three-dimensional chromatin structure during neuronal differentiation. We also focus on the role played in neurogenesis by the nuclear lamina that ensures the tethering of the chromatin to the nuclear envelope.

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“…It is known that HATs act not only on histones, but on a whole array of proteins, including non-nuclear ones, and are also thus named K-acetyltransferases (KAT) [ 37 ]. Like many other families of epigenetic regulators, KATs are numerous and divided into subgroups depending on their subcellular localization and structure [ 41 ]. Erasers of the acetylation mark are histone deacetylases (HDACs; Figure 2 B).…”

Section: Epigenetic Mechanismsmentioning

confidence: 99%

Role of Epigenetic Mechanisms in Chronic Pain

Mauceri

2022

Cells

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Pain is an unpleasant but essential-to-life sensation, usually resulting from tissue damage. When pain persists long after the injury has resolved, it becomes pathological. The precise molecular and cellular mechanisms causing the transition from acute to chronic pain are not fully understood. A key aspect of pain chronicity is that several plasticity events happen along the neural pathways involved in pain. These long-lasting adaptive changes are enabled by alteration in the expression of relevant genes. Among the different modulators of gene transcription in adaptive processes in the nervous system, epigenetic mechanisms play a pivotal role. In this review, I will first outline the main classes of epigenetic mediators and then discuss their implications in chronic pain.

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Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication

Cited by 10 publications

References 177 publications

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

A Glimpse into Chromatin Organization and Nuclear Lamina Contribution in Neuronal Differentiation

Role of Epigenetic Mechanisms in Chronic Pain

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