Toward a comprehensive catalog of regulatory elements
Regulatory elements are the genomic regions that interact with transcription factors to control cell-type-specific gene expression in different cellular environments. A precise and complete catalog of functional elements encoded by the human genome is key to understanding mammalian gene regulation....
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| Veröffentlicht in: | Human genetics 2023-08, Vol.142 (8), p.1091-1111 |
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| container_title | Human genetics |
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| creator | Fan, Kaili Pfister, Edith Weng, Zhiping |
| description | Regulatory elements are the genomic regions that interact with transcription factors to control cell-type-specific gene expression in different cellular environments. A precise and complete catalog of functional elements encoded by the human genome is key to understanding mammalian gene regulation. Here, we review the current state of regulatory element annotation. We first provide an overview of assays for characterizing functional elements, including genome, epigenome, transcriptome, three-dimensional chromatin interaction, and functional validation assays. We then discuss computational methods for defining regulatory elements, including peak-calling and other statistical modeling methods. Finally, we introduce several high-quality lists of regulatory element annotations and suggest potential future directions. |
| doi_str_mv | 10.1007/s00439-023-02519-3 |
| format | Article |
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| subjects | Biomedical and Life Sciences Biomedicine Chromatin Consortia DNA binding proteins DNA methylation epigenome Gene expression Gene Function Gene regulation Genes Genetic transcription Genetics Genomes Genomics Human Genetics humans Mathematical models Metabolic Diseases Molecular Medicine Proteins Regulatory sequences Review RNA polymerase Transcription factors transcriptome Transcriptomes |
| title | Toward a comprehensive catalog of regulatory elements |
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