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Review
. 2022 May 9:16:846272.
doi: 10.3389/fnins.2022.846272. eCollection 2022.

Transcription Pause and Escape in Neurodevelopmental Disorders

Kristel N Eigenhuis  1 , Hedda B Somsen  1 , Debbie L C van den Berg  1
Affiliations
Review

Transcription Pause and Escape in Neurodevelopmental Disorders

Kristel N Eigenhuis et al. Front Neurosci. .

Abstract

Transcription pause-release is an important, highly regulated step in the control of gene expression. Modulated by various factors, it enables signal integration and fine-tuning of transcriptional responses. Mutations in regulators of pause-release have been identified in a range of neurodevelopmental disorders that have several common features affecting multiple organ systems. This review summarizes current knowledge on this novel subclass of disorders, including an overview of clinical features, mechanistic details, and insight into the relevant neurodevelopmental processes.

Keywords: Cornelia de Lange Syndrome; RNApol2; intellectual disability; neurodevelopmental disorders; transcriptional pausing.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
An overview of RNApol2 in initiating, paused and elongating state with transcriptional pausing regulators that contribute to NDDs colored in green. For multi-subunit complexes, subunits with pathogenic NDD variants are outlined. Dark green shading and font highlights factors in which pathogenic variants result in a CdLS-like phenotype. Discussed therapeutics and their targets in the paused RNApol2 complex are indicated. Created with BioRender.com.
See this image and copyright information in PMC

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