Vestigial Like Protein 3 (VGLL3)

By searching a database for sequences similar to Drosophila vestigial, Maeda et al. (2002) identified a partial human VGLL3 sequence corresponding to the TEF1 (TEAD1) interaction domain of vestigial. Northern and dot blot analyses of adult human tissues detected high expression of VGLL3 placenta and weak expression in pancreas.By genomic sequence analysis, Maeda et al. (2002) mapped the VGLL3 gene to chromosome 3.

Protein pull-down assays revealed that direct interaction between Tead1 and Yap or Taz was lost in the mutant protein. The Y410H mutation also abolished the transcriptional activity of Tead1 when it was coexpressed with Yap or Taz. Sveinsson choreoretinal atrophy may be due to loss of function of TEAD1 affecting the regulation of its target genes.