Genomic views of distant-acting enhancers.

Abstract:

:In contrast to protein-coding sequences, the significance of variation in non-coding DNA in human disease has been minimally explored. A great number of recent genome-wide association studies suggest that non-coding variation is a significant risk factor for common disorders, but the mechanisms by which this variation contributes to disease remain largely obscure. Distant-acting transcriptional enhancers--a major category of functional non-coding DNA--are involved in many developmental and disease-relevant processes. Genome-wide approaches to their discovery and functional characterization are now available and provide a growing knowledge base for the systematic exploration of their role in human biology and disease susceptibility.

journal_name

Nature

journal_title

Nature

authors

Visel A,Rubin EM,Pennacchio LA

doi

10.1038/nature08451

subject

Has Abstract

pub_date

2009-09-10 00:00:00

pages

199-205

issue

7261

eissn

0028-0836

issn

1476-4687

pii

nature08451

journal_volume

461

pub_type

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