{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ohno-Oishi M"],"funding":["Japan Science and Technology Agency","Japan Society for the Promotion of Science"],"pagination":["101723"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11088231"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38"],"pubmed_abstract":["Glaucoma is a common cause of blindness worldwide. Genetic effects are believed to contribute to the onset and progress of glaucoma, but the underlying pathological mechanisms are not fully understood. Here, we set out to introduce mutations into the <i>CDKN2B-AS1</i> gene, which is known as being the closely associated with glaucoma, in a human neuronal cell line <i>in vitro</i>. We introduced gene mutations with CRISPR/Cas9 into exons and introns into the <i>CDKN2B-AS1</i> gene. Both mutations strongly promoted neuronal cell death in normal culture conditions. RNA sequencing and pathway analysis revealed that the transcriptional factor Fos is a target molecule regulating <i>CDKN2B-AS1</i> overexpression. We demonstrated that gene mutation of <i>CDKN2B-AS1</i> is directly associated with neuronal cell vulnerability <i>in vitro.</i> Additionally, Fos, which is a downstream signaling molecule of <i>CDKN2B-AS1</i>, may be a potential source of new therapeutic targets for neuronal degeneration in diseases such as glaucoma."],"journal":["Biochemistry and biophysics reports"],"pubmed_title":["SH-SY5Y human neuronal cells with mutations of the <i>CDKN2B-AS1</i> gene are vulnerable under cultured conditions."],"pmcid":["PMC11088231"],"funding_grant_id":["JPMJPF2201","20H03838"],"pubmed_authors":["Ishikawa M","Kanno S","Nakazawa T","Sato K","Kawano C","Ohno-Oishi M","Meiai Z"],"additional_accession":[]},"is_claimable":false,"name":"SH-SY5Y human neuronal cells with mutations of the <i>CDKN2B-AS1</i> gene are vulnerable under cultured conditions.","description":"Glaucoma is a common cause of blindness worldwide. Genetic effects are believed to contribute to the onset and progress of glaucoma, but the underlying pathological mechanisms are not fully understood. Here, we set out to introduce mutations into the <i>CDKN2B-AS1</i> gene, which is known as being the closely associated with glaucoma, in a human neuronal cell line <i>in vitro</i>. We introduced gene mutations with CRISPR/Cas9 into exons and introns into the <i>CDKN2B-AS1</i> gene. Both mutations strongly promoted neuronal cell death in normal culture conditions. RNA sequencing and pathway analysis revealed that the transcriptional factor Fos is a target molecule regulating <i>CDKN2B-AS1</i> overexpression. We demonstrated that gene mutation of <i>CDKN2B-AS1</i> is directly associated with neuronal cell vulnerability <i>in vitro.</i> Additionally, Fos, which is a downstream signaling molecule of <i>CDKN2B-AS1</i>, may be a potential source of new therapeutic targets for neuronal degeneration in diseases such as glaucoma.","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-02T01:37:28.669Z","creation":"2026-04-13T03:12:24.094Z"},"accession":"S-EPMC11088231","cross_references":{"pubmed":["38737728"],"doi":["10.1016/j.bbrep.2024.101723"]}}