The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease  Elisabeth H. Villavicencio, David O. Walterhouse, Philip M. Iannaccone  The American Journal of Human Genetics  Volume 67, Issue 5, Pages 1047-1054 (November 2000) DOI: 10.1016/S0002-9297(07)62934-6 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Human SHH-PTCH-GLI pathway (left) and its links to human diseases (right). The association of the human disease with malfunction of a given element in the pathway is indicated by the matching colors of the boxes. The placement of the elements of the pathway, as well as their role as a repressor (bars) or as an activator (arrows), has been demonstrated in humans. The exceptions are that interaction between human GLI3 and CBP was demonstrated using mouse CBP (Dai et al. 1999), human GLI genes were tested in frog and mouse cells (Ruiz i Altaba 1998; Dai et al. 1999), and mouse gli2 protein function is shown for completeness, although human GLI2 has not been fully characterized (Tanimura et al. 1998; Sasaki et al. 1999). The American Journal of Human Genetics 2000 67, 1047-1054DOI: (10.1016/S0002-9297(07)62934-6) Copyright © 2000 The American Society of Human Genetics Terms and Conditions