Journal
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11
Volume 11, Issue -, Pages 1-24Publisher
ANNUAL REVIEWS
DOI: 10.1146/annurev-genom-082509-141651
Keywords
enhancer; repressor; insulator; chromatin; conservation; long-range regulation; development
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Funding
- NIGMS NIH HHS [R01GM071648] Funding Source: Medline
- NINDS NIH HHS [R01 NS062972-01, R01 NS062972] Funding Source: Medline
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM071648] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS062972] Funding Source: NIH RePORTER
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Transcriptional regulation of gene expression plays a significant role in establishing the diversity of human cell types and biological functions from a common set of genes. The components of regulatory control in the human genome include cis-acting elements that act across immense genomic distances to influence the spatial and temporal distribution of gene expression. Here we review the established categories of distant-acting regulatory elements, discussing the classical and contemporary evidence of their regulatory potential and clinical importance. Current efforts to identify regulatory sequences throughout the genome and elucidate their biological significance depend heavily on advances in sequence conservation based analyses and on increasingly large-scale efforts applying transgenic technologies in model organisms. We discuss the advantages and limitations of sequence conservation as a predictor of regulatory function and present complementary emerging technologies now being applied to annotate regulatory elements in vertebrate genomes.
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