Skip to main content
. 2021 Jul 20;8:29. doi: 10.1038/s41439-021-00161-x

Fig. 2. Nucleotide substitution and immunolocalization of mutant MSX1.

Fig. 2

A Sequencing results for the MSX1 gene in the control (upper panel). Heterologous peaks of the nucleotide sequence for tooth agenesis were detected in the patient’s MSX1 gene (lower panel). B Schematic diagram of wild-type MSX1 and the mutant; p.(Trp145Leufs*24). The MSX1 mutant is a C-terminus-truncated form lacking the homeodomain/MH4 and the PIAS-binding domain. PBD PIAS-binding domain (amino acids 265–297). C Nuclear localization of wild-type and truncated MSX1 in HEK293 cells. FLAG-tagged wild-type MSX1 immunolocalized to the nucleus of transfected HEK293 cells, but immunoreactivity of the mutant MSX1 was diffusely detected in the cytoplasm. MSX1 (FLAG, red); nuclei [4′,6-diamidino-2-phenylindole (DAPI), blue]. Bar = 10 µm.