Just a SNP away: The future of in vivo massively parallel reporter assay
The human genome is largely noncoding, yet the field is still grasping to understand how noncoding variants impact transcription and contribute to disease etiology. The massively parallel reporter assay (MPRA) has been employed to characterize the function of noncoding variants at unprecedented scal...
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| Format: | Article |
| Language: | English |
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Elsevier
2025-02-01
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| Series: | Cell Insight |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2772892724000695 |
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| author | Katherine N. Degner Jessica L. Bell Sean D. Jones Hyejung Won |
| author_facet | Katherine N. Degner Jessica L. Bell Sean D. Jones Hyejung Won |
| author_sort | Katherine N. Degner |
| collection | DOAJ |
| description | The human genome is largely noncoding, yet the field is still grasping to understand how noncoding variants impact transcription and contribute to disease etiology. The massively parallel reporter assay (MPRA) has been employed to characterize the function of noncoding variants at unprecedented scales, but its application has been largely limited by the in vitro context. The field will benefit from establishing a systemic platform to study noncoding variant function across multiple tissue types under physiologically relevant conditions. However, to date, MPRA has been applied to only a handful of in vivo conditions. Given the complexity of the central nervous system and its widespread interactions with all other organ systems, our understanding of neuropsychiatric disorder-associated noncoding variants would be greatly advanced by studying their functional impact in the intact brain. In this review, we discuss the importance, technical considerations, and future applications of implementing MPRA in the in vivo space with the focus on neuropsychiatric disorders. |
| format | Article |
| id | doaj-art-df2db8cc4fc24182b335aa2682388f71 |
| institution | Kabale University |
| issn | 2772-8927 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Cell Insight |
| spelling | doaj-art-df2db8cc4fc24182b335aa2682388f712025-01-30T05:15:17ZengElsevierCell Insight2772-89272025-02-0141100214Just a SNP away: The future of in vivo massively parallel reporter assayKatherine N. Degner0Jessica L. Bell1Sean D. Jones2Hyejung Won3Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USADepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USADepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USADepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Corresponding author. Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.The human genome is largely noncoding, yet the field is still grasping to understand how noncoding variants impact transcription and contribute to disease etiology. The massively parallel reporter assay (MPRA) has been employed to characterize the function of noncoding variants at unprecedented scales, but its application has been largely limited by the in vitro context. The field will benefit from establishing a systemic platform to study noncoding variant function across multiple tissue types under physiologically relevant conditions. However, to date, MPRA has been applied to only a handful of in vivo conditions. Given the complexity of the central nervous system and its widespread interactions with all other organ systems, our understanding of neuropsychiatric disorder-associated noncoding variants would be greatly advanced by studying their functional impact in the intact brain. In this review, we discuss the importance, technical considerations, and future applications of implementing MPRA in the in vivo space with the focus on neuropsychiatric disorders.http://www.sciencedirect.com/science/article/pii/S2772892724000695MPRAIn vivoSystemicNoncoding genomePsychiatricNeurodevelopmental |
| spellingShingle | Katherine N. Degner Jessica L. Bell Sean D. Jones Hyejung Won Just a SNP away: The future of in vivo massively parallel reporter assay Cell Insight MPRA In vivo Systemic Noncoding genome Psychiatric Neurodevelopmental |
| title | Just a SNP away: The future of in vivo massively parallel reporter assay |
| title_full | Just a SNP away: The future of in vivo massively parallel reporter assay |
| title_fullStr | Just a SNP away: The future of in vivo massively parallel reporter assay |
| title_full_unstemmed | Just a SNP away: The future of in vivo massively parallel reporter assay |
| title_short | Just a SNP away: The future of in vivo massively parallel reporter assay |
| title_sort | just a snp away the future of in vivo massively parallel reporter assay |
| topic | MPRA In vivo Systemic Noncoding genome Psychiatric Neurodevelopmental |
| url | http://www.sciencedirect.com/science/article/pii/S2772892724000695 |
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