Scientific background: |
GLI2 (Gli-Kruppel Family Member 2), also called ONCOGENE GLI2, is a protein that in humans is encoded by the GLI2 gene. Sequencing of GLI cDNA clones showed the presence of 5 tandem zinc fingers connected by histidine-cysteine links, which indicated that the gene belongs to the family of zinc finger genes related to Kruppel (Kr). The Drosophila gene Kr is a member of the gap class of segmentation genes; thoracic and anterior abdominal segments fail to form in Kr mutant embryos. By fluorescence in situ hybridization, Matsumoto et al. (1996) refined the assignment of the GLI2 gene to chromosome 2q14. Roessler et al. (2005) showed that GLI2-delta-N exhibited potent transcriptional activity in vivo: overexpression in mouse skin led to the formation of hedgehog-independent epithelial downgrowths resembling basal cell carcinomas, which in humans are associated with constitutive hedgehog signaling. |
References: |
1. Bertolacini, C. D. P., Ribeiro-Bicudo, L. A., Petrin, A., Richieri-Costa, A., Murray, J. C. Clinical findings in patients with GLI2 mutations--phenotypic variability. Clin. Genet. 81: 70-75, 2012.
2. Matsumoto, N., Fujimoto, M., Kato, R., Niikawa, N. Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. Genomics 36: 220-221, 1996.
3. Roessler, E., Ermilov, A. N., Grange, D. K., Wang, A., Grachtchouk, M., Dlugosz, A. A., Muenke, M. A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum. Molec. Genet. 14: 2181-2188, 2005.
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