Format

Send to

Choose Destination
Nat Biotechnol. 2017 Aug 8;35(8):732-746. doi: 10.1038/nbt.3863.

Characterization of noncoding regulatory DNA in the human genome.

Author information

1
Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv, Israel.
2
Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
3
Division of Oncogenomics, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
4
Erasmus MC, Rotterdam University, The Netherlands.

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.

PMID:
28787426
DOI:
10.1038/nbt.3863
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center