Figure 1

Germline mutations in the STK11 gene. Panel A shows the mutations within the gene: exon structure of the STK11 gene is at the top, the coding region is shown in blue. The introns are not drawn to scale. The locations of point mutations are marked by red arrowheads; the intragenic large deletions are depicted as red rectangles below the gene. The approximate localization of large deletions extending outwards STK11 is portrayed on Panel B. The known RefSeq genes of the region are shown as filled arrows. The minimal and maximal sizes of the large genomic deletions are indicated as red and pink bars, respectively. The loci where copy number analyses were done are marked by vertical green arrows, names reflecting their localization with respect to the STK11 gene. Panel C shows the data of the gene dosage experiments.