Figure 9

Characterization of the chromosome 9 ZAV macrosatellite array. (A) Ideogram of chromosome 9 and schematic map of the genomic interval. The array is represented by the right facing open arrow heads. Immediately proximal (<2 kb) is the ZFP37 gene. To the distal side of the array is a inverted repeat and the SLC31A2 gene (60 kb distal). Below is a schematic representation of a single 5.3 kb monomer. LINE & LTR regions are highlighted as is the microsatellite repeats and the two CG1s. (B) Higher-order organization of the chromosome 9. A single 5.3 kb monomer sequence is on the y-axis, whereas the ~35 kb (114.8 Mb hg18).. Dot-plot generated using NCBI Blast, and output image labelled in Adobe Photoshop CS2. (C) Copy number variation of the chromosome 9 macrosatellite array. Southern of XbaI cut DNA from 22 unrelated individuals separated by PFGE and hybridized with a chromosome 9 macrosatellite probe. The ethnicity of the individuals used is indicated at the top. The size of the hybridizing fragments in kb are indicated on the blot. The arrows to the left indicate the range in size of the array as represented by monomer copy number, with 3 in the smallest array and approximately 31 in the largest array.