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dc.citation.number 3 -
dc.citation.startPage e201125011 -
dc.citation.volume 118 - Kim, Sung-Hyun - Yang, Sumin - Lim, Key-Hwan - Ko, Euiseng - Jang, Hyun-Jun - Kang, Mingon - Suh, Pann-Ghill - Joo, Jae-Yeol - 2023-12-21T16:19:52Z - 2023-12-21T16:19:52Z - 2022-01-04 - 2021-01 -
dc.description.abstract Exon splicing triggered by unpredicted genetic mutation can cause translational variations in neurodegenerative disorders. In this study, we discover Alzheimer's disease (AD)-specific single-nucleotide variants (SNVs) and abnormal exon splicing of phospholipase c gamma-1 (PLC.1) gene, using genome-wide association study (GWAS) and a deep learning-based exon splicing prediction tool. GWAS revealed that the identified single-nucleotide variations were mainly distributed in the H3K27ac-enriched region of PLC.1 gene body during brain development in an AD mouse model. A deep learning analysis, trained with human genome sequences, predicted 14 splicing sites in human PLC.1 gene, and one of these completely matched with an SNV in exon 27 of PLC.1 gene in an AD mouse model. In particular, the SNV in exon 27 of PLC.1 gene is associated with abnormal splicing during messenger RNA maturation. Taken together, our findings suggest that this approach, which combines in silico and deep learning-based analyses, has potential for identifying the clinical utility of critical SNVs in AD prediction. -
dc.identifier.bibliographicCitation PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.118, no.3, pp.e201125011 -
dc.identifier.doi 10.1073/pnas.2011250118 -
dc.identifier.issn 0027-8424 -
dc.identifier.scopusid 2-s2.0-85099141553 -
dc.identifier.uri -
dc.identifier.url -
dc.identifier.wosid 000609633900018 -
dc.language 영어 -
dc.publisher NATL ACAD SCIENCES -
dc.title Prediction of Alzheimer's disease-specific phospholipase c gamma-1 SNV by deep learning-based approach for high-throughput screening -
dc.type Article -
dc.description.isOpenAccess FALSE -
dc.relation.journalWebOfScienceCategory Multidisciplinary Sciences -
dc.relation.journalResearchArea Science & Technology - Other Topics -
dc.type.docType Article -
dc.description.journalRegisteredClass scie -
dc.description.journalRegisteredClass scopus -
dc.subject.keywordAuthor Alzheimer&apos -
dc.subject.keywordAuthor s disease -
dc.subject.keywordAuthor deep learning -
dc.subject.keywordAuthor PLC gamma 1 -
dc.subject.keywordAuthor single-nucleotide variation -
dc.subject.keywordPlus PLCG1 MUTATIONS -
dc.subject.keywordPlus RNA -
dc.subject.keywordPlus EXPRESSION -
dc.subject.keywordPlus ENHANCERS -
dc.subject.keywordPlus ISOZYMES -


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