Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Mutant PRPF8 causes widespread splicing changes in spliceosome components in retinitis pigmentosa patient RPE cells

ABSTRACT: Mutant PRPF8 causes widespread splicing changes in spliceosome components in retinitis pigmentosa patient RPE cells

PROVIDER: PRJNA694104 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR13508000.fastq.gz	Fastqsanger.gz
	SRR13508001.fastq.gz	Fastqsanger.gz
	SRR13508002.fastq.gz	Fastqsanger.gz
	SRR13508003.fastq.gz	Fastqsanger.gz
	SRR13508004.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 12

Similar Datasets

Mutant PRPF8 causes widespread splicing changes in spliceosome components in retinitis pigmentosa patient RPE cells

Project description:Retinitis pigmentosa is a rare, progressive disease which affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is currently no therapeutic options to slow down the progression or cure the disease. The development of effective therapies was largely hindered by high genetic heterogeneity, inaccessible disease tissue and unfaithful model organisms. The fact that components of ubiquitously expressed splicing factors lead to the retina-specific disease is an additional intriguing question. Herein, we sought to correlate the retinal cell type-specific disease phenotype with the splicing profile shown by a patient with autosomal recessive RP, caused by a mutation in pre–mRNA splicing factor 8 (PRPF8). In order to get insight into the role of PRPF8 in homeostasis and disease, we capitalize on the ability to generate patient-specific RPE cells and reveal differentially expressed genes unique to RPE cells. We found that spliceosomal complex and ribosomal functions are crucial in determining cell type specificity through differential expression and alternative splicing (AS), and that PRPF8 mutation causes global changes in splice site selection and exon inclusion that particularly affect genes involved in these cellular functions. This finding corroborates the hypothesis that retinal tissue identity is conferred by specific splicing program, and identifies retinal AS events as a framework towards the design of novel therapeutic opportunities.

2021-03-05 | GSE165322 | GEO

PRPF8 CLIP seq for iPSC, kidney organoid, retinal organoid, and retinal epithelium derived from c.6926A>C RPE with Retinitis Pigmentosa patients and CRISPR/Cas9 corrected

Project description:Retinitis Pigmentosa is a group of inherited eye disorders characterized by progressive degeneration of photoreceptor cells in the retina, leading to vision loss and eventual blindness. One of the known genetic mutations associated with RP is the c.6926A>C mutation in the RPE (retinal pigment epithelium) cells. The dataset involves multiple experimental approaches and cell types, providing a comprehensive understanding of the disease and potential corrective strategies.

2024-03-13 | E-MTAB-13171 | biostudies-arrayexpress

Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa

Project description:Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa

| PRJNA675578 | ENA

Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.

Project description:Retinitis pigmentosa (RP) is a rare, progressive disease that affects photoreceptors and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Despite high medical and social impact, there is currently no therapeutic options to slow down the progression of or cure the disease. The development of effective therapies was largely hindered by high genetic heterogeneity, inaccessible disease tissue, and unfaithful model organisms. The fact that components of ubiquitously expressed splicing factors lead to the retina-specific disease is an additional intriguing question. Herein, we sought to correlate the retinal cell-type-specific disease phenotype with the splicing profile shown by a patient with autosomal recessive RP, caused by a mutation in pre-mRNA splicing factor 8 (PRPF8). In order to get insight into the role of PRPF8 in homeostasis and disease, we capitalize on the ability to generate patient-specific RPE cells and reveal differentially expressed genes unique to RPE cells. We found that spliceosomal complex and ribosomal functions are crucial in determining cell-type specificity through differential expression and alternative splicing (AS) and that PRPF8 mutation causes global changes in splice site selection and exon inclusion that particularly affect genes involved in these cellular functions. This finding corroborates the hypothesis that retinal tissue identity is conferred by a specific splicing program and identifies retinal AS events as a framework toward the design of novel therapeutic opportunities.

| S-EPMC8116631 | biostudies-literature

Inhibition of JNK ameliorates rod photoreceptor degeneration in a mouse model of retinitis pigmentosa

Project description:Retinitis pigmentosa (RP) is an inherited eye disease that causes progressive vision loss.To investigate the biological processes and molecular changes that occur in different cell types in the retinas in rd1 mice, a mouse model of retinitis pigmentosa, we performed single-cell RNA-seq to examine the transcriptomes of various retinal cells.

2024-06-23 | GSE261060 | GEO

Search for recessive retinitis pigmentosa genes using RNA expression analysis in lymphoblasts

Project description:Recessive retinitis pigmentosa (RP) is often caused by nonsense mutations that lead to low mRNA levels as a result of nonsense-mediated decay. Some RP genes are expressed at detectable levels in leukocytes as well as in the retina. We designed a microarray-based method to find recessive RP genes based on low lymphoblast mRNA expression levels Keywords: Recessive mutations; mRNA expression; nonsense mediated-decay; retinitis pigmentosa; lymphocyte; Affymetrix genechip Human Genome U133Plus2.0.

2008-07-14 | GSE12086 | GEO

Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p40_analysis]

Project description:Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p40_analysis]

| PRJNA675588 | ENA

Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [CD1-p40_analysis]

Project description:Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [CD1-p40_analysis]

| PRJNA675589 | ENA

Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p20_p40_analysis]

Project description:Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p20_p40_analysis]

| PRJNA675586 | ENA

Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p20_analysis]

Project description:Nrf2 overexpression rescues RPE morphology in mouse models of retinitis pigmentosa [rd1-p20_analysis]