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RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio

Retinal degenerative diseases affect millions of people and represent the leading cause of vision loss around the world. Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, a...

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Published in:BMC genomics 2020-02, Vol.21 (1), p.132-132, Article 132
Main Authors: Saddala, Madhu Sudhana, Lennikov, Anton, Bouras, Adam, Huang, Hu
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Huang, Hu
description Retinal degenerative diseases affect millions of people and represent the leading cause of vision loss around the world. Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, and the structural support of the retina. The molecular pathogenesis of the biological events in retinal degeneration is unclear; however, the molecular basis of the retinal pathological defect can be potentially determined by gene-expression profiling of the whole retina. In the present study, we analyzed the differential gene expression profile of the retina from a wild-type zebrafish and phosphodiesterase 6c (pde6c) mutant. The datasets were downloaded from the Sequence Read Archive (SRA), and adaptors and unbiased bases were removed, and sequences were checked to ensure the quality. The reads were further aligned to the reference genome of zebrafish, and the gene expression was calculated. The differentially expressed genes (DEGs) were filtered based on the log fold change (logFC) (±4) and p-values (p 
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Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, and the structural support of the retina. The molecular pathogenesis of the biological events in retinal degeneration is unclear; however, the molecular basis of the retinal pathological defect can be potentially determined by gene-expression profiling of the whole retina. In the present study, we analyzed the differential gene expression profile of the retina from a wild-type zebrafish and phosphodiesterase 6c (pde6c) mutant. The datasets were downloaded from the Sequence Read Archive (SRA), and adaptors and unbiased bases were removed, and sequences were checked to ensure the quality. The reads were further aligned to the reference genome of zebrafish, and the gene expression was calculated. The differentially expressed genes (DEGs) were filtered based on the log fold change (logFC) (±4) and p-values (p &lt; 0.001). We performed gene annotation (molecular function [MF], biological process [BP], cellular component [CC]), and determined the functional pathways Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway for the DEGs. Our result showed 216 upregulated and 3527 downregulated genes between normal and pde6c mutant zebrafish. These DEGs are involved in various KEGG pathways, such as the phototransduction (12 genes), mRNA surveillance (17 genes), phagosome (25 genes), glycolysis/gluconeogenesis (15 genes), adrenergic signaling in cardiomyocytes (29 genes), ribosome (20 genes), the citrate cycle (TCA cycle; 8 genes), insulin signaling (24 genes), oxidative phosphorylation (20 genes), and RNA transport (22 genes) pathways. Many more of all the pathway genes were down-regulated, while fewer were up-regulated in the retina of pde6c mutant zebrafish. Our data strongly indicate that, among these genes, the above-mentioned pathways' genes as well as calcium-binding, neural damage, peptidase, immunological, and apoptosis proteins are mostly involved in the retinal and neural degeneration that cause abnormalities in photoreceptors or retinal pigment epithelium (RPE) cells.</description><identifier>ISSN: 1471-2164</identifier><identifier>EISSN: 1471-2164</identifier><identifier>DOI: 10.1186/s12864-020-6550-z</identifier><identifier>PMID: 32033529</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Abnormalities ; Adapters ; Adaptor proteins ; Animals ; Annotations ; Apoptosis ; Biochemistry ; Biological activity ; Biosynthesis ; Calcium ; Cardiomyocytes ; Citric acid ; Criminal investigation ; Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics ; Danio rerio ; Degeneration ; Degenerative diseases ; Diseases ; Disruption ; Encyclopedias ; Epithelium ; FastQC ; Gene expression ; Gene Ontology ; Gene Regulatory Networks ; Genes ; Genetic aspects ; Genetic research ; Genomes ; Genomics ; Gluconeogenesis ; Glycolysis ; Health aspects ; Heart cells ; Immunology ; Insulin ; KEGG ; Light Signal Transduction - genetics ; Messenger RNA ; Mutants ; Mutation ; Neurodegeneration ; Oxidative phosphorylation ; Pathogenesis ; Pde6c ; Peptidase ; Phosphodiesterase ; Phosphorylation ; Photoreceptors ; Phototransduction ; Proteins ; Retina ; Retina - metabolism ; Retinal degeneration ; Retinal Degeneration - genetics ; Retinal pigment epithelium ; Rhodopsin ; Ribonucleic acid ; RNA ; RNA sequencing ; RNA transport ; RNA-Seq ; Signal transduction ; Signaling ; Systems development ; Tricarboxylic acid cycle ; Trinity ; Zebrafish ; Zebrafish - genetics ; Zebrafish Proteins - genetics</subject><ispartof>BMC genomics, 2020-02, Vol.21 (1), p.132-132, Article 132</ispartof><rights>COPYRIGHT 2020 BioMed Central Ltd.</rights><rights>2020. 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Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, and the structural support of the retina. The molecular pathogenesis of the biological events in retinal degeneration is unclear; however, the molecular basis of the retinal pathological defect can be potentially determined by gene-expression profiling of the whole retina. In the present study, we analyzed the differential gene expression profile of the retina from a wild-type zebrafish and phosphodiesterase 6c (pde6c) mutant. The datasets were downloaded from the Sequence Read Archive (SRA), and adaptors and unbiased bases were removed, and sequences were checked to ensure the quality. The reads were further aligned to the reference genome of zebrafish, and the gene expression was calculated. The differentially expressed genes (DEGs) were filtered based on the log fold change (logFC) (±4) and p-values (p &lt; 0.001). We performed gene annotation (molecular function [MF], biological process [BP], cellular component [CC]), and determined the functional pathways Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway for the DEGs. Our result showed 216 upregulated and 3527 downregulated genes between normal and pde6c mutant zebrafish. These DEGs are involved in various KEGG pathways, such as the phototransduction (12 genes), mRNA surveillance (17 genes), phagosome (25 genes), glycolysis/gluconeogenesis (15 genes), adrenergic signaling in cardiomyocytes (29 genes), ribosome (20 genes), the citrate cycle (TCA cycle; 8 genes), insulin signaling (24 genes), oxidative phosphorylation (20 genes), and RNA transport (22 genes) pathways. Many more of all the pathway genes were down-regulated, while fewer were up-regulated in the retina of pde6c mutant zebrafish. 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Retinal degeneration has been attributed to a wide variety of causes, such as disruption of genes involved in phototransduction, biosynthesis, folding of the rhodopsin molecule, and the structural support of the retina. The molecular pathogenesis of the biological events in retinal degeneration is unclear; however, the molecular basis of the retinal pathological defect can be potentially determined by gene-expression profiling of the whole retina. In the present study, we analyzed the differential gene expression profile of the retina from a wild-type zebrafish and phosphodiesterase 6c (pde6c) mutant. The datasets were downloaded from the Sequence Read Archive (SRA), and adaptors and unbiased bases were removed, and sequences were checked to ensure the quality. The reads were further aligned to the reference genome of zebrafish, and the gene expression was calculated. The differentially expressed genes (DEGs) were filtered based on the log fold change (logFC) (±4) and p-values (p &lt; 0.001). We performed gene annotation (molecular function [MF], biological process [BP], cellular component [CC]), and determined the functional pathways Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway for the DEGs. Our result showed 216 upregulated and 3527 downregulated genes between normal and pde6c mutant zebrafish. These DEGs are involved in various KEGG pathways, such as the phototransduction (12 genes), mRNA surveillance (17 genes), phagosome (25 genes), glycolysis/gluconeogenesis (15 genes), adrenergic signaling in cardiomyocytes (29 genes), ribosome (20 genes), the citrate cycle (TCA cycle; 8 genes), insulin signaling (24 genes), oxidative phosphorylation (20 genes), and RNA transport (22 genes) pathways. Many more of all the pathway genes were down-regulated, while fewer were up-regulated in the retina of pde6c mutant zebrafish. Our data strongly indicate that, among these genes, the above-mentioned pathways' genes as well as calcium-binding, neural damage, peptidase, immunological, and apoptosis proteins are mostly involved in the retinal and neural degeneration that cause abnormalities in photoreceptors or retinal pigment epithelium (RPE) cells.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>32033529</pmid><doi>10.1186/s12864-020-6550-z</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-2843-0320</orcidid><oa>free_for_read</oa></addata></record>
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source Publicly Available Content Database; PubMed Central
subjects Abnormalities
Adapters
Adaptor proteins
Animals
Annotations
Apoptosis
Biochemistry
Biological activity
Biosynthesis
Calcium
Cardiomyocytes
Citric acid
Criminal investigation
Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics
Danio rerio
Degeneration
Degenerative diseases
Diseases
Disruption
Encyclopedias
Epithelium
FastQC
Gene expression
Gene Ontology
Gene Regulatory Networks
Genes
Genetic aspects
Genetic research
Genomes
Genomics
Gluconeogenesis
Glycolysis
Health aspects
Heart cells
Immunology
Insulin
KEGG
Light Signal Transduction - genetics
Messenger RNA
Mutants
Mutation
Neurodegeneration
Oxidative phosphorylation
Pathogenesis
Pde6c
Peptidase
Phosphodiesterase
Phosphorylation
Photoreceptors
Phototransduction
Proteins
Retina
Retina - metabolism
Retinal degeneration
Retinal Degeneration - genetics
Retinal pigment epithelium
Rhodopsin
Ribonucleic acid
RNA
RNA sequencing
RNA transport
RNA-Seq
Signal transduction
Signaling
Systems development
Tricarboxylic acid cycle
Trinity
Zebrafish
Zebrafish - genetics
Zebrafish Proteins - genetics
title RNA-Seq reveals differential expression profiles and functional annotation of genes involved in retinal degeneration in Pde6c mutant Danio rerio
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