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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (human)

ABSTRACT: Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (human)

PROVIDER: PRJNA607976 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR11140700.fastq.gz	Fastqsanger.gz
	SRR11140701.fastq.gz	Fastqsanger.gz
	SRR11140702.fastq.gz	Fastqsanger.gz
	SRR11140694.fastq.gz	Fastqsanger.gz
	SRR11140695.fastq.gz	Fastqsanger.gz

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Similar Datasets

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)

Project description:Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)

| PRJNA607984 | ENA

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (human)

Project description:Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome family localized in Xq28 and four additional unrelated males with overlapping features. Our fam50a knockout (KO) zebrafish model exhibits abnormal neurogenesis and craniofacial patterning, and in vivo complementation assays indicate that the patient-derived variants are hypomorphic. RNA sequencing analysis from fam50a KO zebrafish show dysregulation of the transcriptome, with augmented spliceosome mRNAs and depletion of transcripts involved in neurodevelopment. Zebrafish RNA-seq datasets show a preponderance of 3’ alternative splicing events in fam50a KO, suggesting a role in the spliceosome C complex. These data are supported with transcriptomic signatures from cell lines derived from affected individuals and FAM50A protein-protein interaction data. In sum, Armfield XLID syndrome is a spliceosomopathy associated with aberrant mRNA processing during development.

2020-05-02 | GSE145710 | GEO

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy (zebrafish)

2020-05-02 | GSE145711 | GEO

Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

Project description:Wide phenotypic spectrum of human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

2022-10-31 | GSE148435 | GEO

INTS8 mutations cause severe neurodevelopmental syndrome

Project description:Integrator (INT) is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. INT has at least 14 subunits, but INT germline mutations causing human disease have not been reported. We identified mutations in the Integrator Complex Subunit 8 gene (INTS8) causing a rare neurodevelopmental syndrome. In patient cells we identified significant disturbance of gene expression and RNA processing. Also, we show that injection of ints8 oligonucleotide morpholinos into zebrafish embryos leads to prominent underdevelopment of the head demonstrating the evolutionary conserved requirement of INTS8 in brain development. RNA sequencing was carried out using RNA samples from fibroblasts from two individuals with germline bi-allelic INTS8 mutations and from two healthy individuals

2017-05-17 | E-GEOD-76878 | biostudies-arrayexpress

Transcriptional reprogramming of neural stem cells by a PHF6/EphR signalling pathway [ChIP-Seq]

Project description:The plant homeodomain zinc finger protein,PHF6, is a transcriptional regulator, with its germline mutations causing the X-linked intellectual disability (XLID), Börjeson-Forssman-Lehmann syndrome (BFLS).The precise mechanisms by whichPHF6regulates transcription and how its mutant forms lead to XLID remain poorly characterized. Here, we show genome-wide binding of PHF6 in the developing cortex, most of which overlap (CA)n-microsatellite repeats near genes involved in central nervous system development and neurogenesis. Mice harbouring BFLS patient mutations exhibit defects in neurogenesis and altered neural stem cell fate. Mechanistically, we find that PHF6 regulatesa panel of Ephrin receptors (EphRs)and that PHF6regulation ofEphRis impaired in BFLS mice and ina conditionalPhf6knock-out mouse model. We report that mice harboring BFLS mutations exhibit an increase in embryonic neural stem cell (eNSC) self-renewal, a significant attenuation of newly born neurons, and thatEphRknockdown phenocopies the PHF6 loss-of-function defects in altering eNSC fate. Our results suggest that alterations in eNSC fate specification via a PHF6/EphRtranscriptional pathway leads to impaired neurogenesis in BFLS

2024-02-07 | GSE247836 | GEO

INTS8 mutations cause severe neurodevelopmental syndrome

2017-05-17 | GSE76878 | GEO

SMAD4-associated Myhre syndrome mutations

Project description:SMAD4-associated Myhre syndrome mutations are under positive selection in the male germline

| PRJEB64495 | ENA

Transcriptional reprogramming of neural stem cells by a PHF6/EphR signalling pathway [RNA-seq]

2024-02-07 | GSE247837 | GEO

Transcription profiling of human nevoid basal cell carcinoma syndrome primary fibroblasts with non-sense or miss-sense mutations in the tumor supressor gene PTCH1

Project description:Mutations in the tumor suppressor gene PTCH1 are responsible for Gorlin syndrome, or nevoid basal cell carcinoma syndrome (NBCCS). NBCCS causes predisposition to basal cell carcinoma (BCC), the commonest cancer in adult human. In the general population BCC develop almost exclusively in sun-exposed area of the skin (Buettner PG, Raasch BA (1998) Int J Cancer 78: 587-593). In contrast, and, intriguingly, NBCCS BCCs are observed in both sun-protected and sun-exposed areas. Interestingly, our previous studies have shown that both fibroblasts and keratinocytes from NBCCS patients exhibit normal nucleotide excision repair of UVB-induced DNA lesions and survival capacities following a single UVB irradiation (Brellier F, Valin A, et al. (2008) Br J Dermatol.). These data suggest that sun UV are far from being the only etiologic factor of BCC in NBCCS patients. In this study we aimed at documenting the possible role of NBCCS fibroblasts in BCC development in NBCCS patients. Thus, the genome expression of NBCCS primary fibroblasts cultured in a dermal equivalent was compared to the one of control fibroblasts under the same circumstances.

2009-03-19 | E-TABM-549 | biostudies-arrayexpress

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