Figure 3.

Sequences of the Translocation Breakpoints and Protein Sequence Alignment of WDR11 Orthologs

(A) Genomic DNA sequence at the breakpoints from the normal and derivative chromosomes. The breakpoint on chromosome 10 is located between nucleotides 122,053,649 and 122,053,650, whereas on chromosome 12 it occurs between nucleotides 46,038,271 and 46,038,272 (UCSC Genome Browser NCBI hg18). The junction sequence reveals a 4 bp duplication at the breakpoint of the der(10) chromosome and a 1 bp deletion and a 57 bp insertion at the junction on the der(12) chromosome.

(B) ClustalW multiple alignment of partial protein sequences of WDR11 orthologs. The positions of three residues affected by missense mutations of WDR11 are marked by arrows and red letters in the corresponding segments of the multiple alignment. The amino acid residues that differ from the sequence of the human WDR11 protein are indicated in blue, and the ninth WD domain is indicated under the panel. All three mutated residues are evolutionarily fully conserved in all 13 available WDR11 orthologs.