Disease relevance of Tgif1

• Heterozygous mutations of TGIF have been found in patients with holoprosencephaly (HPE), which is the most common congenital brain malformation in humans [1].
• Haploinsufficient mutations in the TG-interacting factor (TGIF) gene were previously identified in a subset of HPE families and sporadic patients, and this gene is located within a region of chromosome 18 that is associated with nonrandom chromosomal aberrations in HPE patients [2].

High impact information on Tgif1

• Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination [3].
• Thus, TGIF links the NODAL signalling pathway to the bifurcation of the human forebrain and the establishment of ventral midline structures [3].
• We created a Tgif null mutation in mice and tested the sensitivity of mutant mice to increased levels of retinoic acid [4].
• Embryonic fibroblasts from mice lacking Tgif were defective in cell cycling [2].
• Cellular analysis of mutant mouse embryonic fibroblasts (MEFs) demonstrated for the first time that Tgif regulates proliferation and progression through the G1 cell cycle phase [2].

Biological context of Tgif1

• Both histological examination and gene expression analysis showed that Tgif-/- embryos have a normal ventral specification in the central nervous system, including the forebrain region [5].
• However, targeted disruption of the Tgif gene during mouse development does not cause any detectable defects in development and growth [5].

Associations of Tgif1 with chemical compounds

• TGIF (TG-interacting factor) represses transforming growth factor beta (TGF-beta)-activated gene expression and can repress transcription via a specific retinoid response element [4].

References