Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

2019 ◽  
Vol 138 (2) ◽  
pp. 187-198 ◽  
Author(s):  
Marco Fichera ◽  
Pinella Failla ◽  
Lucia Saccuzzo ◽  
Martina Miceli ◽  
Eliana Salvo ◽  
...  
Keyword(s):  
Chromatin Remodeling ◽  
Early Onset ◽  
Cerebellar Atrophy ◽  
Epileptic Encephalopathy ◽  
Chromatin Remodeling Complex ◽  
A Subunit

scholarly journals Efg1-mediated Recruitment of NuA4 to Promoters Is Required for Hypha-specific Swi/Snf Binding and Activation inCandida albicans

2008 ◽  
Vol 19 (10) ◽  
pp. 4260-4272 ◽  
Author(s):  
Yang Lu ◽  
Chang Su ◽  
Xuming Mao ◽  
Prashna Pala Raniga ◽  
Haoping Liu ◽  
...  
Keyword(s):  
Chromatin Remodeling ◽  
Transcriptional Activation ◽  
Chromatin Immunoprecipitation ◽  
Pathogenic Fungus ◽  
Dependent Manner ◽  
Hyphal Development ◽  
Chromatin Remodeling Complex ◽  
A Subunit ◽  
Human Pathogenic Fungus ◽  
Incandida Albicans

Efg1 is essential for hyphal development and virulence in the human pathogenic fungus Candida albicans. How Efg1 regulates gene expression is unknown. Here, we show that Efg1 interacts with components of the nucleosome acetyltransferase of H4 (NuA4) histone acetyltransferase (HAT) complex in both yeast and hyphal cells. Deleting YNG2, a subunit of the NuA4 HAT module, results in a significant decrease in the acetylation level of nucleosomal H4 and a profound defect in hyphal development, as well as a defect in the expression of hypha-specific genes. Using chromatin immunoprecipitation, Efg1 and the NuA4 complex are found at the UAS regions of hypha-specific genes in both yeast and hyphal cells, and Efg1 is required for the recruitment of NuA4. Nucleosomal H4 acetylation at the promoters peaks during initial hyphal induction in an Efg1-dependent manner. We also find that Efg1 bound to the promoters of hypha-specific genes is critical for recruitment of the Swi/Snf chromatin remodeling complex during hyphal induction. Our data show that the recruitment of the NuA4 complex by Efg1 to the promoters of hypha-specific genes is required for nucleosomal H4 acetylation at the promoters during hyphal induction and for subsequent binding of Swi/Snf and transcriptional activation.

scholarly journals Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Neurology ◽  
2016 ◽  
Vol 86 (23) ◽  
pp. 2162-2170 ◽  
Author(s):  
Aleksandra Siekierska ◽  
Mala Isrie ◽  
Yue Liu ◽  
Chloë Scheldeman ◽  
Niels Vanthillo ◽  
...  
Keyword(s):  
Early Onset ◽  
Cerebellar Atrophy ◽  
Epileptic Encephalopathy ◽  
Gain Of Function

scholarly journals Bap170, a Subunit of the Drosophila PBAP Chromatin Remodeling Complex, Negatively Regulates the EGFR Signaling

Genetics ◽  
2010 ◽  
Vol 186 (1) ◽  
pp. 167-181 ◽  
Author(s):  
Rosaria Rendina ◽  
Agostino Strangi ◽  
Bice Avallone ◽  
Ennio Giordano
Keyword(s):  
Chromatin Remodeling ◽  
Egfr Signaling ◽  
Chromatin Remodeling Complex ◽  
A Subunit

scholarly journals SIRT6 promotes transcription of a subset of NRF2 targets by mono-ADP-ribosylating BAF170

2019 ◽  
Vol 47 (15) ◽  
pp. 7914-7928 ◽  
Author(s):  
Sarallah Rezazadeh ◽  
David Yang ◽  
Gregory Tombline ◽  
Matthew Simon ◽  
Sean P Regan ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Rna Polymerase Ii ◽  
Chromatin Remodeling ◽  
Transcriptional Activation ◽  
Heme Oxygenase 1 ◽  
Nuclear Factor ◽  
Active Chromatin ◽  
Adp Ribosylation ◽  
Chromatin Remodeling Complex ◽  
A Subunit

Abstract SIRT6 is critical for activating transcription of Nuclear factor (erythroid-derived 2)-like 2 (NRF2) responsive genes during oxidative stress. However, while the mechanism of SIRT6-mediated silencing is well understood, the mechanism of SIRT6-mediated transcriptional activation is unknown. Here, we employed SIRT6 separation of function mutants to reveal that SIRT6 mono-ADP-ribosylation activity is required for transcriptional activation. We demonstrate that SIRT6 mono-ADP-ribosylation of BAF170, a subunit of BAF chromatin remodeling complex, is critical for activation of a subset of NRF2 responsive genes upon oxidative stress. We show that SIRT6 recruits BAF170 to enhancer region of the Heme oxygenase-1 locus and promotes recruitment of RNA polymerase II. Furthermore, SIRT6 mediates the formation of the active chromatin 10-kb loop at the HO-1 locus, which is absent in SIRT6 deficient tissue. These results provide a novel mechanism for SIRT6-mediated transcriptional activation, where SIRT6 mono-ADP-ribosylates and recruits chromatin remodeling proteins to mediate the formation of active chromatin loop.

scholarly journals Acetylation of Rsc4p by Gcn5p Is Essential in the Absence of Histone H3 Acetylation

2008 ◽  
Vol 28 (23) ◽  
pp. 6967-6972 ◽  
Author(s):  
Jennifer K. Choi ◽  
Daniel E. Grimes ◽  
Keegan M. Rowe ◽  
LeAnn J. Howe
Keyword(s):  
Chromatin Remodeling ◽  
Histone H3 ◽  
Growth Defect ◽  
Chromatin Remodeling Complex ◽  
Histone H3 Acetylation ◽  
Phenotype Comparison ◽  
A Subunit ◽  
Redundant Functions ◽  
H3 Acetylation ◽  
First Time

ABSTRACT Rsc4p, a subunit of the RSC chromatin-remodeling complex, is acetylated at lysine 25 by Gcn5p, a well-characterized histone acetyltransferase (HAT). Mutation of lysine 25 does not result in a significant growth defect, and therefore whether this modification is important for the function of the essential RSC complex was unknown. In a search to uncover the molecular basis for the lethality resulting from loss of multiple histone H3-specific HATs, we determined that loss of Rsc4p acetylation is lethal in strains lacking histone H3 acetylation. Phenotype comparison of mutants with arginine and glutamine substitutions of acetylatable lysines within the histone H3 tail suggests that it is a failure to neutralize the charge of the H3 tail that is lethal in strains lacking Rsc4p acetylation. We also demonstrate that Rsc4p acetylation does not require any of the known Gcn5p-dependent HAT complexes and thus represents a truly novel function for Gcn5p. These results demonstrate for the first time the vital and yet redundant functions of histone H3 and Rsc4p acetylation in maintaining cell viability.

scholarly journals Histone Fold Protein Dls1p Is Required for Isw2-Dependent Chromatin Remodeling In Vivo

2004 ◽  
Vol 24 (7) ◽  
pp. 2605-2613 ◽  
Author(s):  
Audrey D. McConnell ◽  
Marnie E. Gelbart ◽  
Toshio Tsukiyama
Keyword(s):  
Dna Polymerase ◽  
Chromatin Remodeling ◽  
Dna Polymerase Epsilon ◽  
Histone Fold ◽  
Chromatin Remodeling Complex ◽  
A Subunit ◽  
Polymerase Epsilon ◽  
Higher Eukaryotes

ABSTRACT We report the identification of two new subunits of the Isw2 chromatin-remodeling complex in Saccharomyces cerevisiae. Both proteins, Dpb4p and Yjl065cp (named Dls1p), contain histone fold motifs and are homologous to the two smallest subunits of ISWI-containing CHRAC complexes in higher eukaryotes. Dpb4p is also a subunit of the DNA polymerase epsilon (polε) complex, and Dls1p is homologous to another polε subunit, Dpb3p. Therefore, these small histone fold proteins may fulfill functions that are required for both polε and Isw2 complexes. We characterized the role of Dls1p in known roles of the Isw2 complex in vivo. Transcriptional analyses reveal that the Isw2 complex requires Dls1p to various degrees at a wide variety of loci in vivo. Consistent with this, Dls1p is required for Isw2-dependent chromatin remodeling in vivo, although the requirement for this protein varies among Isw2 targets. Dls1p is likely required for functions of the Isw2 complex at steps subsequent to its interaction with chromatin, since a dls1 mutation does not affect cross-linking of Isw2 with chromatin.

Abstract A42: Epigenetic silencing of Brahma, a subunit of the chromatin remodeling complex SWI/SNF

2013 ◽  
Author(s):  
Bhaskar Kahali ◽  
Sarah Gramling ◽  
Ken Thompson ◽  
Stefanie Marquez ◽  
Lu Lu ◽  
...  
Keyword(s):  
Chromatin Remodeling ◽  
Epigenetic Silencing ◽  
Chromatin Remodeling Complex ◽  
A Subunit
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