Gene Regulatory Elements, Major Drivers of Human Disease

Gene Regulatory Elements, Major Drivers of Human Disease Gene expression changes, the driving forces for cellular diversity in multicellular organisms, are regulated by a diverse set of gene regulatory elements that direct transcription in specific cells. Mutations in these elements, ranging from chromosomal aberrations to single-nucleotide polymorphisms, are a major cause of human disease. However, we currently have a very limited understanding of how regulatory element genotypes lead to specific phenotypes. In this review, we discuss the various methods of regulatory element identification, the different types of mutations they harbor, and their impact on human disease. We highlight how these variations can affect transcription of multiple genes in gene regulatory networks. In addition, we describe how novel technologies, such as massively parallel reporter assays and CRISPRCas9 genome editing, are beginning to provide a better understanding of the functional roles that these elements have and how their alteration can lead to specific phenotypes. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annual Review of Genomics and Human Genetics Annual Reviews

Gene Regulatory Elements, Major Drivers of Human Disease

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Publisher
Annual Reviews
Copyright
Copyright 2017 by Annual Reviews. All rights reserved
ISSN
1527-8204
eISSN
1545-293X
D.O.I.
10.1146/annurev-genom-091416-035537
Publisher site
See Article on Publisher Site

Abstract

Gene expression changes, the driving forces for cellular diversity in multicellular organisms, are regulated by a diverse set of gene regulatory elements that direct transcription in specific cells. Mutations in these elements, ranging from chromosomal aberrations to single-nucleotide polymorphisms, are a major cause of human disease. However, we currently have a very limited understanding of how regulatory element genotypes lead to specific phenotypes. In this review, we discuss the various methods of regulatory element identification, the different types of mutations they harbor, and their impact on human disease. We highlight how these variations can affect transcription of multiple genes in gene regulatory networks. In addition, we describe how novel technologies, such as massively parallel reporter assays and CRISPRCas9 genome editing, are beginning to provide a better understanding of the functional roles that these elements have and how their alteration can lead to specific phenotypes.

Journal

Annual Review of Genomics and Human GeneticsAnnual Reviews

Published: Aug 31, 2017

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