Characterization of noncoding regulatory DNA in the human genome

Ran Elkon, Reuven Agami

Research output: Contribution to journalReview articlepeer-review

Abstract

Genetic variants associated with common diseases are usually located in noncoding parts of the human genome. Delineation of the full repertoire of functional noncoding elements, together with efficient methods for probing their biological roles, is therefore of crucial importance. Over the past decade, DNA accessibility and various epigenetic modifications have been associated with regulatory functions. Mapping these features across the genome has enabled researchers to begin to document the full complement of putative regulatory elements. High-throughput reporter assays to probe the functions of regulatory regions have also been developed but these methods separate putative regulatory elements from the chromosome so that any effects of chromatin context and long-range regulatory interactions are lost. Definitive assignment of function(s) to putative cis-regulatory elements requires perturbation of these elements. Genome-editing technologies are now transforming our ability to perturb regulatory elements across entire genomes. Interpretation of high-throughput genetic screens that incorporate genome editors might enable the construction of an unbiased map of functional noncoding elements in the human genome.

Original languageEnglish
Pages (from-to)732-746
Number of pages15
JournalNature Biotechnology
Volume35
Issue number8
DOIs
StatePublished - 8 Aug 2017

Fingerprint

Dive into the research topics of 'Characterization of noncoding regulatory DNA in the human genome'. Together they form a unique fingerprint.

Cite this