GLI3


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GLI3

A gene on chromosome 7p13 that encodes a DNA-binding C2H2-type zinc finger protein of the Gli family, which plays a role in limb development. The full-length GLI3 (GLI3FL) is a transcriptional activator; GLI3R, the C-terminally truncated form, acts as a repressor of the sonic hedgehog (Shh) pathway.

Molecular pathology
GLI3 mutations are associated with Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, pre-axial polydactyly type IV, and postaxial polydactyly types A1 and B.
References in periodicals archive ?
But this only worked in mouse embryos that produced GLI3. In embryos lacking GLI3, the bundling of nerve processes was much looser than normal: The paths frayed, so to speak a feature that was clearly visible under the microscope.
[11.] Litingtung Y, Dahn RD, Li Y, Fallon JF, Chiang C (2002) Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity.
[15.] Debeer P, Peeters H, Driess S, De Smet L, Freese K, Matthijs G, Bornholdt D, Devriendt K, Grzeschik KH, Fryns JP, Kalff-Suske M (2003) Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations.
First, there is a single case of a patient with a phenotype indistinguishable from acrocallosal syndrome who has a p.A934P GLI3 mutation (8).
The activity of the Shh signaling pathway targeting genes expression is controlled by the Gli family (Gli1, Gli2, and Gli3).
More than two hundred genes were expressed by TACs, such as HOXC13, KITL, LEF1, BMP2, WNT10b, FOXP1, and GLI3, among many others (the complete list is found in http://hair-gel.net).
In the absence of HH ligands, SUFU inhibits HH signaling by sequestration of GLI proteins in the cytoplasm and by promoting the formation of the GLI3 repressor (GLI3R).
Expression of the two ligands Sonic Hedgehog (Shh) and Indian Hedgehog (Ihh) is limited to the intervillus pockets of the developing epithelium, while the expression of the receptors patched 1 (Ptch1) and patched 2 (Ptch2) and the effectors Gli1, Gli2, and Gli3 is restricted to the underlying mesenchyme [125].
Joyner, "Titration of GLI3 repressor activity by sonic hedgehog signaling is critical for maintaining multiple adult neural stem cell and astrocyte functions," The Journal of Neuroscience, vol.
After their secretion, hedgehog proteins bind to Patched (Ptch) leading to the release of Smoothened (Smo) from Ptch binding and resulting in activation of Gli transcription factors (Gli1, Gli2, and Gli3) which in turn modulate cell proliferation and survival (reviewed in [74]).