Figure 1. Kindred with the hyperparathyroidism-jaw tumor syndrome associated with germline HRPT2/CDC73 L95P missense mutation.

A. Pedigree of study kindred with the hyperparathyroidism-jaw tumor syndrome including three generations of affecteds. Square symbols indicate males, and round symbols indicate females, with legend to phenotypes shown in lower right. The arrow indicates the proband (III-1). The asterisk above a symbol indicates positivity for germline HRPT2/CDC73 L95P missense mutation testing, and ND above a symbol indicates gene testing not yet performed. A black dot within an otherwise blank symbol indicates that the serum calcium was normal at the latest screening in an individual never known to have hypercalcemia. B. Sequence alignment of human parafibromin protein residues 59–103 with the corresponding regions of predicted homologs from Drosophila melanogaster (Hyrax, CG11990) and the nematode Brugia malayi (NCBI Access. No. XP_001895980). The position of the conserved leucine at residue 95 in human parafibromin is indicated (arrow), as is the position of a nucleolar localization signal (NoLS) encompassing residues 76 –92 previously described (Hahn and Marsh 2007). Multiple sequence alignment was generated with ClustalW2 software (v. 2.0.12) available at the European Bioinformatics Institute website (http://www.ebi.ac.uk/Tools/clustalw2/), using the default parameters (Larkin, et al. 2007). “*”, residues in the column are identical in all sequences in the alignment, “:”, conserved substitutions observed in the alignment; “.”, semiconserved substitutions observed in the alignment.