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posted 30. October 2003 09:14
Science October 17, 2003
Scanning Human Gene Deserts for Long-Range Enhancers
by Marcelo A. Nobrega, Ivan Ovcharenko, Veena Afzal, Edward M. Rubin
Human DACH, a gene expressed in numerous tissues and involved in the development of brain, limbs, and sensory organs (3, 4), spans 430 kb and is bracketed by two gene deserts 870 kb and 1330 kb in length. A paucity of regulatory sequences has been identified in the proximity of the DACH promoter (5), suggesting that distal sequences, which could reside anywhere in a sea of sequence greater than 2630 kb, are likely responsible for the gene's complex expression characteristics.
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The demonstration that several of the enhancers characterized in this study reside in gene deserts highlights that these regions can indeed serve as reservoirs for sequence elements containing important functions. Moreover, our observations have implications for studies aiming to decipher the regulatory architecture of the human genome, as well as those exploring the functional impact of sequence variation. The size of genomic regions believed to be functionally linked to a particular gene may need to be expanded to take into account the possibility of essential regulatory sequences acting over near-megabase distances.
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