Preaxial polydactyly caused by Gli3 haploinsufficiency is rescued by Zic3 loss of function in mice.
Cincinnati, United States. In Hum Mol Genet, 2012
study demonstrates that Zic3 and Gli3 expression overlap in developing limbs and that Zic3 converts Gli3 from repressor to activator in vitro; results indicate two Gli superfamily members that cause disparate human congenital malformation syndromes interact genetically and demonstrate the importance of Zic3 in regulating Shh pathway in developing limbs
X-linked situs abnormalities result from mutations in ZIC3.
Houston, United States. In Nat Genet, 1997
Previously we mapped a locus for situs abnormalities in humans, HTX1, to Xq26.2 by linkage analysis in a single family (LR1) and by detection of a deletion in an unrelated situs ambiguus male (Family LR2; refs 2,3).