Characterization of the chromosome 13 macrosatellite array. (A) Ideogram of chromosome 13 and schematic map of the genomic interval indicating PCDH17 450 kb distal. The array is represented by the right facing open arrow heads. Below is a schematic representation of a single 6.6 kb monomer. The location and gene structure of the transcript PRR20 is indicated below the monomer transcribing from left to right (proximal to distal). LINE, Alu and TTTA-repeat are indicated by the labelled shaded boxes, as are the two CGIs. (B) Higher-order organization of the chromosome 13 array. A single 6.6 kb monomer sequence is on the y-axis, whereas the ~41 kb genomic interval is on the x-axis (57.1 Mb hg18). Dot-plot generated using NCBI Blast, and output image labelled in Adobe Photoshop CS2. (C) Copy number variation of the chromosome 13 macrosatellite array. Southern blot analysis of EcoRI cut DNA from 11 unrelated individuals separated by PFGE and hybridized with a chromosome 13 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 5 in the smallest array and approximately 20 in the largest array.
Tremblay et al. BMC Genomics 2010 11:632 doi:10.1186/1471-2164-11-632