The use of base editing technology to characterize single nucleotide variants
Single nucleotide variants (SNVs) represent the most common type of polymorphism in the human genome. However, in many cases the phenotypic impacts of such variants are not well understood. Intriguingly, while some SNVs cause debilitating diseases, other variants in the same gene may have no, or lim...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-01-01
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| Series: | Computational and Structural Biotechnology Journal |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2001037022001064 |
| _version_ | 1797978193751179264 |
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| author | Sophia McDaniel Alexis Komor Alon Goren |
| author_facet | Sophia McDaniel Alexis Komor Alon Goren |
| author_sort | Sophia McDaniel |
| collection | DOAJ |
| description | Single nucleotide variants (SNVs) represent the most common type of polymorphism in the human genome. However, in many cases the phenotypic impacts of such variants are not well understood. Intriguingly, while some SNVs cause debilitating diseases, other variants in the same gene may have no, or limited, impact. The mechanisms underlying these complex patterns are difficult to study at scale. Additionally, current data and research is mainly focused on European populations, and the mechanisms underlying genetic traits in other populations are poorly studied. Novel technologies may be able to mitigate this disparity and improve the applicability of personalized healthcare to underserved populations. In this review we discuss base editing technologies and their potential to accelerate progress in this field, particularly in combination with single-cell RNA sequencing. We further explore how base editing screens can help link SNVs to distinct disease phenotypes. We then highlight several studies that take advantage of single-cell RNA sequencing and CRISPR screens to emphasize the current limitations and future potential of this technique. Lastly, we consider the use of such approaches to potentially accelerate the study of genetic mechanisms in non-European populations. |
| first_indexed | 2024-04-11T05:20:09Z |
| format | Article |
| id | doaj.art-01a8b326fa524abeba029ea86d2648a3 |
| institution | Directory Open Access Journal |
| issn | 2001-0370 |
| language | English |
| last_indexed | 2024-04-11T05:20:09Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Computational and Structural Biotechnology Journal |
| spelling | doaj.art-01a8b326fa524abeba029ea86d2648a32022-12-24T04:51:53ZengElsevierComputational and Structural Biotechnology Journal2001-03702022-01-012016701680The use of base editing technology to characterize single nucleotide variantsSophia McDaniel0Alexis Komor1Alon Goren2Department of Medicine, University of California San Diego, La Jolla, CA, United StatesDepartment of Chemistry and Biochemistry, University of California San Diego, La Jolla, CA, United States; Corresponding authors.Department of Medicine, University of California San Diego, La Jolla, CA, United States; Corresponding authors.Single nucleotide variants (SNVs) represent the most common type of polymorphism in the human genome. However, in many cases the phenotypic impacts of such variants are not well understood. Intriguingly, while some SNVs cause debilitating diseases, other variants in the same gene may have no, or limited, impact. The mechanisms underlying these complex patterns are difficult to study at scale. Additionally, current data and research is mainly focused on European populations, and the mechanisms underlying genetic traits in other populations are poorly studied. Novel technologies may be able to mitigate this disparity and improve the applicability of personalized healthcare to underserved populations. In this review we discuss base editing technologies and their potential to accelerate progress in this field, particularly in combination with single-cell RNA sequencing. We further explore how base editing screens can help link SNVs to distinct disease phenotypes. We then highlight several studies that take advantage of single-cell RNA sequencing and CRISPR screens to emphasize the current limitations and future potential of this technique. Lastly, we consider the use of such approaches to potentially accelerate the study of genetic mechanisms in non-European populations.http://www.sciencedirect.com/science/article/pii/S2001037022001064Single nucleotide variantsBase editingCRISPRScreensSingle-cell RNA sequencing |
| spellingShingle | Sophia McDaniel Alexis Komor Alon Goren The use of base editing technology to characterize single nucleotide variants Computational and Structural Biotechnology Journal Single nucleotide variants Base editing CRISPR Screens Single-cell RNA sequencing |
| title | The use of base editing technology to characterize single nucleotide variants |
| title_full | The use of base editing technology to characterize single nucleotide variants |
| title_fullStr | The use of base editing technology to characterize single nucleotide variants |
| title_full_unstemmed | The use of base editing technology to characterize single nucleotide variants |
| title_short | The use of base editing technology to characterize single nucleotide variants |
| title_sort | use of base editing technology to characterize single nucleotide variants |
| topic | Single nucleotide variants Base editing CRISPR Screens Single-cell RNA sequencing |
| url | http://www.sciencedirect.com/science/article/pii/S2001037022001064 |
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