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. 2014 Aug 7;9(8):e102944. doi: 10.1371/journal.pone.0102944

Figure 2. MSX1 variants isolated from tooth agenesis patients.

Figure 2

A: DNA sequences of MSX1 exon 2 in unaffected (a and b) and affected (c and d) individuals. The C-T transition at position 521 (T174I), and T-G transition in position 614 (L205R) in the mutant sequences cause amino acid substitutions within the MH4/homeodomain of MSX1. B: Schematic representation of the human MSX1 protein. Multiple sequence alignments of the MSX1 MH4/homeodomain sequences sorted by species and homology are shown. Sequences were obtained from the SwissProt database and thereby aligned. Conservation of the key Thr174 and Leu205 amino acids (black arrows) across species is indicated by gray shading. The leucine at position 205 is universally conserved at that position but the threonine at position 174 is replaced by serine, which has a similar polarity, in C. elegans Msx1 (See Additional file 1 in [43]). C: 3D models of mutant and wild-type MSX1 based on the crystal structures of the Msx1 MH4/homeodomain in complex with DNA (PDB ID 1IG7).