Figure 2.

Pedigrees of the Five MESD-Associated OI Individuals, Their MESD Mutations, and the Location of these Mutations in the MESD Protein

Upper panel: Family pedigrees and mutations in MESD for each affected individual.

Lower panel: Alignment of human MESD with mouse MESD, showing important chaperone activity and ER-retention domains; the first amino acid residues affected by the four different affected individual mutations are noted with red rectangles and the amino acid residue converted to a termination codon in the mouse Mesd expression construct is asterisked.