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Letter

Nature Genetics 40, 1348–1353 (1 November 2008) | doi:10.1038/ng.230

Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

Yongsu Jeong , Federico Coluccio Leskow , Kenia El-Jaick , Erich Roessler , Maximilian Muenke , Anastasia Yocum , Christele Dubourg , Xue Li , Xin Geng , Guillermo Oliver & Douglas J Epstein

In humans, SHH haploinsufficiency results in holoprosencephaly (HPE), a defect in anterior midline formation. Despite the importance of maintaining SHH transcript levels above a critical threshold, we know little about the upstream regulators of SHH expression in the forebrain.