Example 1 (continued)

After adjusting the tracks displayed on the Genome Browser, you can see that the Hispanic thalassemia deletion (among two others) removes noncoding, intergenic DNA that has several characteristics of gene regulatory regions. As indicated by the outlined box, the deleted regions (long blue rectangles) show several peaks of evolutionary conservation (dark blue track) that correspond to DNase I hypersensitive sites (HSs, red tracks) associated with hyperacetylated histones in chromatin (black tracks) in an erythroid cell line (K562). The FAIRE signals (lower green tracks) are also a reflection of accessible chromatin. The prominent signals in the ENCODE data correspond to the several hypersensitive sites (HS1, HS2, HS3, and HS4) in the locus control region, which is needed for high-level expression of all beta-like globin genes (including HBE1) in erythroid cells. Known regulatory regions in this locus are shown in the green custom track at the top (data set, instructions).

The following ENCODE groups contributed data shown in this diagram:

Acetylated histone data:  Sanger Institute, group headed by Ian Dunham.
FAIRE:  University of North Carolina, group headed by Jason Lieb.
DNase hypersensitive sites:  University of Washington and Regulome, group headed by John Stamatoyannopoulos.
Known regulatory regions:  Penn State University, group headed by Ross Hardison.

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