Year: 2017
Type: review
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 CRISPR/Cas9 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.
Authors: Sumantra Chatterjee, Nadav Ahituv
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: Integrative interpretation of the organismal consequences of non-coding variation, Massively parallel reporter assays and genome editing of ENCODE predicted regulatory elements, Massively parallel dissection of psychiatric regulatory networks, Developmental Mechanisms of Human Idiopathic Scoliosis
OpenAlex ID: W2581818460