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• [View PDF] - Figure 2 Identification of the p arm breakpoint including the gene structure and predicted amino acid sequence of the DOCK3 gene broken by the p arm breakpoint of the chromosome 3 inversion.
  (A) Fluorescent in situ hybridisation of the BAC clone RP11-3f4 to a metaphase spread of a lymphoblast cell from the proband. The red signal indicates the marker probe used to define the q arm of the normal and inverted chromosomes 3. The green signal shows RP11-3f4 hybridising to the p arm of the normal chromosome 3 (white arrow), a small signal remaining in the normal position on the anomalous chromosome (green arrow) and a larger signal flipping across to the q arm (green arrowhead).
  (B) Southern blot analysis of genomic DNA from the proband using probe (i) from figure 1A. The arrows indicate the abnormal restriction fragments arising from the chromosome rearrangement. P, proband DNA; C, DNA from unaffected controls.
  (C) The DOCK3 gene mRNA sequence is shown with the corresponding predicted protein sequence. The numbering of the nucleotide sequence begins at the ATG start site. The exons are highlighted in alternating grey and aqua and the breakpoint is indicated by a red bar. The mRNA sequence predicts for a soluble protein of 2030 amino acids and a molecular weight of 233.1 kDa. The protein has an SH3 domain indicated in bold italics.

• [View PDF] - Figure 4 Confirmation of the 3q breakpoint region and the gene structure and predicted amino acid sequence of the SLC9A9 gene disrupted at the q arm.
  (A) Fluorescent in situ hybridisation of the BAC clone RP11-56b20 to a metaphase spread of a lymphoblast cell from the proband. The red signal indicates the marker probe used to define the q arm of the normal and inverted chromosomes 3. The green signal shows the test probe hybridising to the q arm of the normal chromosome 3 (white arrow), and equivalent signals remaining in the normal position on the anomalous chromosome (green arrow) and flipping across to the p arm (green arrowhead).
  (B) Southern blot analysis of genomic DNA from the proband using probe (ii) from fig 1D.
  (C) The SLC9A9 gene mRNA sequence is depicted along with the corresponding predicted protein sequence. The numbering of the nucleotide sequence begins at the ATG start site. The exons are highlighted in alternating grey and red and the breakpoint is indicated by a red bar. The mRNA sequence predicts for a protein with ten transmembrane domains indicated in bold italics. The putative protein has 645 amino acids and a molecular weight of 72.6 kDa.