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Comprehensive Analysis of RNA-Seq Gene Expression Profiling of Brain Transcriptomes Reveals Novel Genes, Regulators, and Pathways in Autism Spectrum Disorder

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dc.contributor.authorTURANLI, BESTE
dc.contributor.authorsRahman, Md Rezanur; Petralia, Maria Cristina; Ciurleo, Rosella; Bramanti, Alessia; Fagone, Paolo; Shahjaman, Md; Wu, Lang; Sun, Yanfa; Turanli, Beste; Arga, Kazim Yalcin; Islam, Md Rafiqul; Islam, Tania; Nicoletti, Ferdinando
dc.date.accessioned2022-03-14T09:27:18Z
dc.date.available2022-03-14T09:27:18Z
dc.date.issued2020-10-17
dc.description.abstractBackground: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with deficits in social communication ability and repetitive behavior. The pathophysiological events involved in the brain of this complex disease are still unclear. Methods: In this study, we aimed to profile the gene expression signatures of brain cortex of ASD patients, by using two publicly available RNA-seq studies, in order to discover new ASD-related genes. Results: We detected 1567 differentially expressed genes (DEGs) by meta-analysis, where 1194 were upregulated and 373 were downregulated genes. Several ASD-related genes previously reported were also identified. Our meta-analysis identified 235 new DEGs that were not detected using the individual RNA-seq studies used. Some of those genes, including seven DEGs (PAK1, DNAH17, DOCK8, DAPP1, PCDHAC2, and ERBIN, SLC7A7), have been confirmed in previous reports to be associated with ASD. Gene Ontology (GO) and pathways analysis showed several molecular pathways enriched by the DEGs, namely, osteoclast differentiation, TNF signaling pathway, complement and coagulation cascade. Topological analysis of protein-protein interaction of the ASD brain cortex revealed proteomics hub gene signatures: MYC, TP53, HDAC1, CDK2, BAG3, CDKN1A, GABARAPL1, EZH2, VIM, and TRAF1. We also identified the transcriptional factors (TFs) regulating DEGs, namely, FOXC1, GATA2, YY1, FOXL1, USF2, NFIC, NFKB1, E2F1, TFAP2A, HINFP. Conclusion: Novel core genes and molecular signatures involved with ASD were identified by our meta-analysis.
dc.identifier.doi10.3390/brainsci10100747
dc.identifier.eissn2076-3425
dc.identifier.pubmed33080834
dc.identifier.urihttps://hdl.handle.net/11424/243141
dc.identifier.wosWOS:000584524200001
dc.language.isoeng
dc.publisherMDPI
dc.relation.ispartofBRAIN SCIENCES
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectautisms spectrum disorders
dc.subjectmeta-analysis
dc.subjectRNA-sequencing
dc.subjecttranscriptomes
dc.subjectprotein-protein interaction
dc.subjectmolecular pathways
dc.subjectCOPY NUMBER VARIATIONS
dc.subjectBONE MASS
dc.subjectMETAANALYSIS
dc.subjectNETWORK
dc.subjectSIGNATURES
dc.subjectCHILDREN
dc.subjectTODDLERS
dc.subjectDISEASE
dc.subjectBOYS
dc.titleComprehensive Analysis of RNA-Seq Gene Expression Profiling of Brain Transcriptomes Reveals Novel Genes, Regulators, and Pathways in Autism Spectrum Disorder
dc.typearticle
dspace.entity.typePublication
local.avesis.idc3980062-5e6e-405f-880c-7bdced48cc05
local.import.packageSS16
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.articlenumber747
local.journal.numberofpages16
local.journal.quartileQ3
oaire.citation.issue10
oaire.citation.titleBRAIN SCIENCES
oaire.citation.volume10
relation.isAuthorOfPublication3e8c4f64-93ae-4b42-953c-35c8b07586b3
relation.isAuthorOfPublication.latestForDiscovery3e8c4f64-93ae-4b42-953c-35c8b07586b3

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