There are no files associated with this item.
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.citation.number | 3 | - |
dc.citation.startPage | e201125011 | - |
dc.citation.title | PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | - |
dc.citation.volume | 118 | - |
dc.contributor.author | Kim, Sung-Hyun | - |
dc.contributor.author | Yang, Sumin | - |
dc.contributor.author | Lim, Key-Hwan | - |
dc.contributor.author | Ko, Euiseng | - |
dc.contributor.author | Jang, Hyun-Jun | - |
dc.contributor.author | Kang, Mingon | - |
dc.contributor.author | Suh, Pann-Ghill | - |
dc.contributor.author | Joo, Jae-Yeol | - |
dc.date.accessioned | 2023-12-21T16:19:52Z | - |
dc.date.available | 2023-12-21T16:19:52Z | - |
dc.date.created | 2022-01-04 | - |
dc.date.issued | 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 | https://scholarworks.unist.ac.kr/handle/201301/55938 | - |
dc.identifier.url | https://www.pnas.org/content/118/3/e2011250118 | - |
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 | - |
Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.
Tel : 052-217-1404 / Email : scholarworks@unist.ac.kr
Copyright (c) 2023 by UNIST LIBRARY. All rights reserved.
ScholarWorks@UNIST was established as an OAK Project for the National Library of Korea.