Supplementary Figure 2 Schematic representation of the genomic organization of
the multiple endocrine neoplasia type 1 gene (MEN1), illustrating mutations identified
in families with familial isolated hyperparathyroidism (FIHP) (numbers 1–29). MEN1
consists of 10 exons, which span >9 kb of genomic DNA and encode a 610 amino
acid protein, menin.1 The 1.83 kb coding region is organized into 9 exons (exons 2–
10, indicated by boxes) and 8 introns (indicated by a line, but not to scale). The start
(ATG) and stop (TGA) codons are in exons 2 and 10 respectively. Exon 1, the 5' part
of exon 2 and 3' part of exon 10 are untranslated. The locations of the two carboxyterminal nuclear localization sites (NLS), which are at codons 479–497, and 588–608,
are represented by thick horizontal lines above exon 10.1 The locations of the three
domains, which are formed by codons 1–40 (exon 2), 139–242 (exons 2,3 and 4) and
323–428 (exons 7, 8 and 9), that interact with JunD are indicated by the light-grey
boxes.1 The sites of the 29 FIHP mutations (Supplementary Table 2), of which 27
have been previously reported and 2 have been identified by this study (shown in
bold), are indicated.