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Assessment of gene expression levels upon overexpession of Retinitis pigmentosa associated Prp8 mutant proteins in the Drosophila eye antennal imaginal discs

ABSTRACT: Assessment of gene expression levels upon overexpession of Retinitis pigmentosa associated Prp8 mutant proteins in the Drosophila eye antennal imaginal discs

PROVIDER: PRJNA579375 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR10342862_1.fastq.gz	Fastqsanger.gz
	SRR10342862_2.fastq.gz	Fastqsanger.gz
	SRR10342863_1.fastq.gz	Fastqsanger.gz
	SRR10342863_2.fastq.gz	Fastqsanger.gz
	SRR10342864_1.fastq.gz	Fastqsanger.gz

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Assessment of gene expression levels upon overexpession of Retinitis pigmentosa associated Prp8 mutant proteins in the Drosophila eye antennal imaginal discs

Project description:Retinitis pigmentosa (RP) represents a heterogeneous group of hereditary eye disorders characterized by a progressive loss of vision. Mutations in thirty different genes have been linked to the autosomal dominant form of RP (adRP), with nearly one-quarter of them encoding the core components of the spliceosome, a macromolecular machine that removes introns from nascent pre-mRNAs, generating mature transcripts. Here we establish the Drosophila melanogaster model for RP13 linked to the mutations in the most conserved protein of the spliceosome, PRPF8/Prp8. We demonstrate negative impact of the nine different RP-associated Prp8 mutant proteins on the developmental timing when expressed in the endocrine cells specialized to produce the major insect molting hormone. In the developing eye primordium, actively cycling cells rather than differentiated photoreceptors showed sensitivity to Prp8 malfunction. The overexpression of the two most toxic RP variants Prp8S>F and Prp8H>R induced apoptosis and disturbances of the adult eye morphology. While the affected tissue mounted the stress and cytoprotective response, the genetic programs underlying neuronal function were attenuated. Importantly, the expressivity and penetrance among the RP-Prp8 mutations differed and increased under prp8 heterozygosity.

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Project description:In this study we use Tag-sequencing in eye-antennal and wing imaginal discs across Drosophila species to determine a set of conserved eye-specific developmental genes. Next, we perform motif discovery analysis using the tool i-cisTarget, to depict the core gene developmental network underlying compound eye photoreceptor. The Glass position weight matrix appears as the most highly overrepresented motif, thus positioning Glass as a master regulator in compound eye photoreceptor development. Differential gene expression analysis by RNA-seq in D.melanogaster wild-type eye-antennal versus glass mutant [gl 60j] shows that the majority of our predicted Glass targets show strong downregulation in the glass mutant. This SuperSeries is composed of the following subset Series: GSE39781: RNA-seq in wild-type and glass mutant eye-antennal discs in Drosophila melanogaster GSE39782: Tag-seq profiling in eye-antennal and wing imaginal discs of D. melanogaster, D. yakuba and D. virilis

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