Schimmang T, Lemaistre M, Vortkamp A, Rüther U
European Molecular Biology Laboratory, Heidelberg, Germany.
Development. 1992 Nov;116(3):799-804. doi: 10.1242/dev.116.3.799.
Genetic analysis and homology between the phenotypic alterations of the human Greig Cephalopolysyndactyly Syndrome (GCPS) and the mouse mutant extra-toes (Xt) have suggested a dominant mutation in the same gene of both species. Recently, the GLI3 gene, a member of the Krüppel-related zinc finger genes, has been proposed as a candidate gene for GCPS. We examined the expression of the mouse Gli3 gene in both Xt mutant animals and during normal mouse development. Northern and RNAase protection analysis of embryos revealed that Gli3 expression was reduced about 50% in heterozygous Xt/+ mice and completely absent in homozygous Xt/Xt mice. In addition, in situ analysis of wild-type mice documented Gli3 expression in the developing limb and brain, structures affected in Xt mutant mice. This pattern suggests an important function of the Gli3 gene during morphogenesis.
人类Greig头多并指（趾）综合征（GCPS）的表型改变与小鼠突变体extra-toes（Xt）之间的遗传分析及同源性研究表明，这两个物种的同一基因发生了显性突变。最近，Krüppel相关锌指基因家族成员GLI3基因被提议作为GCPS的候选基因。我们检测了小鼠Gli3基因在Xt突变动物及正常小鼠发育过程中的表达情况。对胚胎进行的Northern杂交和RNA酶保护分析显示，在杂合子Xt/+小鼠中，Gli3表达降低了约50%，而在纯合子Xt/Xt小鼠中则完全缺失。此外，对野生型小鼠的原位分析表明，Gli3在发育中的肢体和大脑中表达，而这些结构在Xt突变小鼠中会受到影响。这种表达模式表明Gli3基因在形态发生过程中具有重要作用。
