A Role for the Chromatin‐Remodeling Factor<i>BAZ1A</i>in Neurodevelopment

Zaghlool, Ammar; Halvardson, Jonatan; Zhao, Jinyan; Etemadikhah, Mitra; Kalushkova, Antonia; Końska, Katarzyna; Jernberg-Wiklund, Helena; Thuresson, Ann‐Charlotte; Feuk, Lars

doi:10.1002/humu.23034

Cited by 33 publications

(26 citation statements)

References 109 publications

(132 reference statements)

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“…This might also explain the milder phenotype observed in the patient reported by Zaghlool et al () presenting with intellectual disability, epilepsy, ataxia, and hyper mobile joints, compared to the severe features of the patient reported here. As ACF1 is known to be involved in transcriptional repression of vitamin D3 receptor (VDR)‐regulated genes through blocking the accessibility of the transcription factors to VDR in the absence of vitamin D3 (VD3) (Ewing, Attner, & Chakravarti, ), Zaghlool et al () performed several experiments, showing that their patient displayed decreased binding of ACF1 to the promoter of the VDR‐regulated gene CYP24A1 . Using RNA sequencing, they further found that the mutation in their patient affects the expression of genes involved in several pathways including vitamin D metabolism, probably explaining the reduced vitamin‐D (25‐(OH)D) serum levels (70 nmol/l, normal range is 125–200 nmol/l) of their patient.…”

Section: Discussionsupporting

confidence: 57%

“…Interestingly, the linker region affected by the p. Phe1348Cys substitution reported by Zaghlool et al (2016), has no homologous region in Drosophila Baz1a, implicative that the p.Phe1348Cys substitution harboring region is overall less important for ACF1 protein function than the region harboring the here identified p.Arg1093Gln mutation. This might also explain the milder phenotype observed in the patient reported by Zaghlool et al (2016) presenting with intellectual disability, epilepsy, ataxia, and hyper mobile joints, compared to the severe features of the patient reported here.…”

Section: Discussionmentioning

confidence: 66%

“…While the identification of the de novo BAZ1A mutation in Case 3 has been previously reported in one singleton in over 100,000 Europeans tested, Zaghlool et al (), most recently identified a different de novo mutation in BAZ1A (c.4043T > G; p.Phe1348Cys), in a patient with unexplained intellectual disability.…”

Section: Discussionmentioning

confidence: 94%

“… Schematic representation of human ACF1 protein adopted from Zaghlool et al (). Known domains are drawn to scale with the corresponding amino acid residue numbers given above.…”

Section: Resultsmentioning

confidence: 99%

“…This time frame represents the equivalent of human gestational weeks 5-8 hence, the postulated time of VATER/VACTERL organogenesis in humans (Stevenson & Hunter, 2013) (Figure 2). Strong expression of Baz1a could be detected in VATER/VACTERL associated tissues, such F IGUR E 1 Schematic representation of human ACF1 protein adopted from Zaghlool et al (2016). Known domains are drawn to scale with the corresponding amino acid residue numbers given above.…”

Section: R Es Ult Smentioning

confidence: 99%

See 4 more Smart Citations

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene

Weitensteiner

Zhang

Bungenberg

et al. 2018

Birth Defects Research

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 94%

“… Schematic representation of human ACF1 protein adopted from Zaghlool et al (). Known domains are drawn to scale with the corresponding amino acid residue numbers given above.…”

Section: Resultsmentioning

confidence: 99%

Section: R Es Ult Smentioning

confidence: 99%

See 3 more Smart Citations

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene

Weitensteiner

Zhang

Bungenberg

et al. 2018

Birth Defects Research

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Epigenetic regulation of craniofacial development and disease

Shull,

Artinger

2023

Birth Defects Research

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BackgroundThe formation of the craniofacial complex relies on proper neural crest development. The gene regulatory networks (GRNs) and signaling pathways orchestrating this process have been extensively studied. These GRNs and signaling cascades are tightly regulated as alterations to any stage of neural crest development can lead to common congenital birth defects, including multiple syndromes affecting facial morphology as well as nonsyndromic facial defects, such as cleft lip with or without cleft palate. Epigenetic factors add a hierarchy to the regulation of transcriptional networks and influence the spatiotemporal activation or repression of specific gene regulatory cascades; however less is known about their exact mechanisms in controlling precise gene regulation.AimsIn this review, we discuss the role of epigenetic factors during neural crest development, specifically during craniofacial development and how compromised activities of these regulators contribute to congenital defects that affect the craniofacial complex.

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Spatiotemporal expression and coexpression patterns of SRPK1 in the human brain: A neurodevelopmental perspective

Wang,

Roy,

2023

Brain and Behavior

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BackgroundSRPK1 is a splicing‐related protein that plays an important role in the development and function of the human brain. This article presents evidence that SRPK1 has distinct spatiotemporal expression patterns enriched in processes related to neurodevelopmental disorders across development.Material and methodWe used the BrainSpan growing mammalian brain transcriptome to evaluate the distribution of SRPK1 throughout the entire brain. RNA‐sequencing data were gathered from 524 tissue samples recovered from 41 postmortem brains of physiologically normal individuals spanning early developing fetus (8 postconception weeks, PCW) to later life (40 years of age). Using the Allen Human Brain Atlas (AHBA) dataset, we analyzed the spatial gene expression of 15 adult human brains. Using Toppgene, we identified genes that exhibit significant coexpression with SRPK1.ResultsWe found evidence that analyzing the spatiotemporal gene expression profile and identifying coexpressed genes reveals that SRPK1 expression is involved in various neurodevelopmental and somatic events throughout the lifetime.ConclusionOur findings highlight the importance of detailed maps of gene expression in the human brain for improved human‐to‐human translation and illustrate differences in SRPK1 expression across anatomical areas and developmental stages in healthy human brain tissue.

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A Role for the Chromatin‐Remodeling FactorBAZ1Ain Neurodevelopment

Cited by 33 publications

References 109 publications

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene

Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene

Epigenetic regulation of craniofacial development and disease

Spatiotemporal expression and coexpression patterns of SRPK1 in the human brain: A neurodevelopmental perspective

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