Article
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders.
Proceedings of the National Academy of Sciences of the United States of America - 19 Apr 2016
Wakabayashi Aoi, Ulirsch Jacob C, Ludwig Leif S, Fiorini Claudia, Yasuda Makiko, Choudhuri Avik, McDonel Patrick, Zon Leonard I, Sankaran Vijay G
Abstract excerpt
Whole-exome sequencing has been incredibly successful in identifying causal genetic variants and has revealed a number of novel genes associated with blood and other diseases. One limitation of this approach is that it overlooks mutations in noncoding regulatory elements. Furthermore, the mechanisms by which mutations in transcriptionalcis-regulatory elements result in disease remain poorly understood. Here we...
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