scholarly journals MeCP2 and Chromatin Compartmentalization

Cells ◽  
2020 ◽  
Vol 9 (4) ◽  
pp. 878 ◽  
Author(s):  
Annika Schmidt ◽  
Hui Zhang ◽  
M. Cristina Cardoso
Keyword(s):  
Transcriptional Regulation ◽  
Rett Syndrome ◽  
Chromatin Structure ◽  
Binding Protein ◽  
Higher Order ◽  
Functional Domains ◽  
Genome Architecture

Methyl-CpG binding protein 2 (MeCP2) is a multifunctional epigenetic reader playing a role in transcriptional regulation and chromatin structure, which was linked to Rett syndrome in humans. Here, we focus on its isoforms and functional domains, interactions, modifications and mutations found in Rett patients. Finally, we address how these properties regulate and mediate the ability of MeCP2 to orchestrate chromatin compartmentalization and higher order genome architecture.

ATRX in chromatin assembly and genome architecture during development and disease

2011 ◽  
Vol 89 (5) ◽  
pp. 435-444 ◽  
Author(s):  
Nathalie G. Bérubé
Keyword(s):  
Gene Regulation ◽  
Chromatin Remodeling ◽  
Chromatin Structure ◽  
Higher Order ◽  
Chromatin Assembly ◽  
Genome Architecture ◽  
Chromatin Conformation ◽  
Mammalian Development ◽  
Mitosis And Meiosis

The regulation of genome architecture is essential for a variety of fundamental cellular phenomena that underlie the complex orchestration of mammalian development. The ATP-dependent chromatin remodeling protein ATRX is emerging as a key regulatory component of nucleosomal dynamics and higher order chromatin conformation. Here we provide an overview of the role of ATRX at chromatin and during development, and discuss recent studies exposing a repertoire of ATRX functions at heterochromatin, in gene regulation, and during mitosis and meiosis. Exciting new progress on several fronts suggest that ATRX operates in histone variant deposition and in the modulation of higher order chromatin structure. Not surprisingly, dysfunction or absence of ATRX protein has devastating consequences on embryonic development and leads to human disease.

scholarly journals Rett syndrome from bench to bedside: recent advances

F1000Research ◽  
2018 ◽  
Vol 7 ◽  
pp. 398 ◽  
Author(s):  
Yann Ehinger ◽  
Valerie Matagne ◽  
Laurent Villard ◽  
Jean-Christophe Roux
Keyword(s):  
Transcriptional Regulation ◽  
Rett Syndrome ◽  
Neurological Disorder ◽  
De Novo ◽  
Binding Protein ◽  
Chromatin Organization ◽  
Molecular Function ◽  
Therapeutic Approaches ◽  
Cellular Models ◽  
Recent Advances

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome

2019 ◽  
Author(s):  
Carla Caffarelli ◽  
Tomai Pitinca Maria Dea ◽  
Valentina Francolini ◽  
Roberto Canitano ◽  
felice Claudio De ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Bone Disease ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

scholarly journals Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome

2014 ◽  
Vol 51 (3) ◽  
pp. 152-158 ◽  
Author(s):  
Vishnu Anand Cuddapah ◽  
Rajesh B Pillai ◽  
Kiran V Shekar ◽  
Jane B Lane ◽  
Kathleen J Motil ◽  
...  
Keyword(s):  
Disease Severity ◽  
Rett Syndrome ◽  
Binding Protein ◽  
Mecp2 Mutation ◽  
Mutation Type

Higher-Order Chromatin Structure-Dependent Repair of DNA Double-Strand Breaks: Factors Affecting Elution of DNA from Nucleoids

1998 ◽  
Vol 149 (6) ◽  
pp. 533 ◽  
Author(s):  
P. J. Johnston ◽  
S. H. MacPhail ◽  
J. P. Banáth ◽  
P. L. Olive ◽  
J. P. Banath
Keyword(s):  
Chromatin Structure ◽  
Higher Order ◽  
Double Strand Breaks ◽  
Dna Double Strand Breaks ◽  
Factors Affecting ◽  
Strand Breaks

scholarly journals Study of expression analysis of SIRT4 and the coordinate regulation of bovine adipocyte differentiation by SIRT4 and its transcription factors

2018 ◽  
Vol 38 (6) ◽  
Author(s):  
Jieyun Hong ◽  
Shijun Li ◽  
Xiaoyu Wang ◽  
Chugang Mei ◽  
Linsen Zan
Keyword(s):  
Transcriptional Regulation ◽  
Transcription Factors ◽  
Adipocyte Differentiation ◽  
Binding Protein ◽  
Core Promoter ◽  
Critical Role ◽  
Luciferase Reporter ◽  
Marker Genes ◽  
Gene Assay ◽  
Bovine Adipocytes

Sirtuins, NAD+-dependent deacylases and ADP-ribosyltransferases, are critical regulators of metabolism involved in many biological processes, and are involved in mediating adaptive responses to the cellular environment. SIRT4 is a mitochondrial sirtuin and has been shown to play a critical role in maintaining insulin secretion and glucose homeostasis. As a regulator of lipid homeostasis, SIRT4 can repress fatty acid oxidation and promote lipid anabolism in nutrient-replete conditions. Using real-time quantitative PCR (qPCR) to explore the molecular mechanisms of transcriptional regulation of bovine SIRT4 during adipocyte differentiation, we found that bovine SIRT4 is expressed at high levels in bovine subcutaneous adipose tissue. SIRT4 knockdown led to decreased expression of adipogenic differentiation marker genes during adipocyte differentiation. The core promoter of bovine SIRT4 was identified in the −402/−60 bp region of the cloned 2-kb fragment containing the 5′-regulatory region. Binding sites were identified in this region for E2F transcription factor-1 (E2F1), CCAAT/enhancer-binding protein β (CEBPβ), homeobox A5 (HOXA5), interferon regulatory factor 4 (IRF4), paired box 4 (PAX4), and cAMP responsive element-binding protein 1 (CREB1) by using Electrophoretic mobility shift assay (EMSA) and luciferase reporter gene assay. We also found that E2F1, CEBPβ, and HOXA5 transcriptionally activate SIRT4 expression, whereas, IRF4, PAX4, and CREB1 transcriptionally repress SIRT4 expression. We further verified that SIRT4 knockdown could affect the ability of these transcription factors (TFs) to regulate the differentiation of bovine adipocytes. In conclusion, our results shed light on the mechanisms underlying the transcriptional regulation of SIRT4 expression in bovine adipocytes.

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