Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases
Genome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5′ and 3′ UTRs and splice sites) are essential in regulating temporal and tissue-s...
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| Format: | Article |
| Language: | English |
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IMR Press
2024-03-01
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| Series: | Frontiers in Bioscience-Scholar |
| Subjects: | |
| Online Access: | https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601004 |
| _version_ | 1797238593375174656 |
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| author | Edwin G. Peña-Martínez José A. Rodríguez-Martínez |
| author_facet | Edwin G. Peña-Martínez José A. Rodríguez-Martínez |
| author_sort | Edwin G. Peña-Martínez |
| collection | DOAJ |
| description | Genome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5′ and 3′ UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the molecular recognition of the cis-regulatory elements, leading to gene dysregulation. However, determining causality between non-coding variants, gene regulation, and human disease has remained challenging. Experimental and computational methods have been developed to understand the molecular mechanism involved in non-coding variant interference at the transcriptional and post-transcriptional levels. This review discusses recent approaches to evaluating disease-associated single-nucleotide variants (SNVs) and determines their impact on transcription factor (TF) binding, gene expression, chromatin conformation, post-transcriptional regulation, and translation. |
| first_indexed | 2024-04-24T17:38:06Z |
| format | Article |
| id | doaj.art-0a49f6789f6a4245aa043526b07b33b3 |
| institution | Directory Open Access Journal |
| issn | 1945-0516 |
| language | English |
| last_indexed | 2024-04-24T17:38:06Z |
| publishDate | 2024-03-01 |
| publisher | IMR Press |
| record_format | Article |
| series | Frontiers in Bioscience-Scholar |
| spelling | doaj.art-0a49f6789f6a4245aa043526b07b33b32024-03-28T02:51:23ZengIMR PressFrontiers in Bioscience-Scholar1945-05162024-03-01161410.31083/j.fbs1601004S1945-0516(24)00095-9Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human DiseasesEdwin G. Peña-Martínez0José A. Rodríguez-Martínez1Department of Biology, University of Puerto Rico-Río Piedras, 00931 San Juan, Puerto RicoDepartment of Biology, University of Puerto Rico-Río Piedras, 00931 San Juan, Puerto RicoGenome-wide association studies (GWAS) have mapped over 90% of disease- and quantitative-trait-associated variants within the non-coding genome. Non-coding regulatory DNA (e.g., promoters and enhancers) and RNA (e.g., 5′ and 3′ UTRs and splice sites) are essential in regulating temporal and tissue-specific gene expressions. Non-coding variants can potentially impact the phenotype of an organism by altering the molecular recognition of the cis-regulatory elements, leading to gene dysregulation. However, determining causality between non-coding variants, gene regulation, and human disease has remained challenging. Experimental and computational methods have been developed to understand the molecular mechanism involved in non-coding variant interference at the transcriptional and post-transcriptional levels. This review discusses recent approaches to evaluating disease-associated single-nucleotide variants (SNVs) and determines their impact on transcription factor (TF) binding, gene expression, chromatin conformation, post-transcriptional regulation, and translation.https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601004non-coding variantsgene regulationtranscription factorsmassively parallel reporter assayrna processing |
| spellingShingle | Edwin G. Peña-Martínez José A. Rodríguez-Martínez Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases Frontiers in Bioscience-Scholar non-coding variants gene regulation transcription factors massively parallel reporter assay rna processing |
| title | Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases |
| title_full | Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases |
| title_fullStr | Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases |
| title_full_unstemmed | Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases |
| title_short | Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases |
| title_sort | decoding non coding variants recent approaches to studying their role in gene regulation and human diseases |
| topic | non-coding variants gene regulation transcription factors massively parallel reporter assay rna processing |
| url | https://www.imrpress.com/journal/FBS/16/1/10.31083/j.fbs1601004 |
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