Figure 4.

Evolutionary Conservation of SOX6 Residues Altered in Affected Individuals

(A) Alignment of human SOXD sequences encompassing Trp161. Asterisks represent fully conserved residues, and dots represent semi-conserved residues.

(B) Alignment of the HMG domain sequences of all human SOX proteins: residues altered in SOX6 in affected individuals in our study are shown in red, and residues altered in SOX5 in affected individuals with LAMSHF syndrome are shown in purple. Triangles represent residues mediating DNA binding (blue) and bending (green). Brackets represent H1, H2, and H3 α helices. Lines linked with dots represent key amino acids in nuclear localization signal sequences (NLSs) and nuclear export signal sequences (NESs).

(C) Alignment of human SOXD sequences encompassing Ser746 with indication of the position of SOX5 and SOX6 variants identified in affected individuals in our study.