Summary of regions of homology with portions of the 614-kb sequence surrounding the fusion site on 2q13–2q14.1 that were identified by BlastN searches of finished genomic sequence publicly available as of February 28, 2002. Table 1 gives the clone names and accession numbers for the paralogous segments. For simplicity, only one of the sequences with homology with only the 68-kb region immediately surrounding the fusion site is shown. Red solid lines indicate the regions with >95% average identity to the 2qFus sequence. These lines are drawn with reference to the 2qFus sequence; the actual lengths of the paralogous segments may be slightly longer or shorter than those drawn because of distributed insertions and deletions. Red dotted lines indicate adjoining regions with no available sequence, but that were shown by PCR to be homologous to 2qFus (see Fig. 1). Different colors are used to indicate divergent sequence, with solid lines indicating the extent of contiguous sequence coverage, and dotted lines indicating either unavailable sequence or neighboring sequence that lacks homology with any of the other segments shown. Blocks 9p11.2-A and -B map to the pericentromeric region of 9 by fluorescence in situ hybridization and hybrid panel analyses and are tentatively assigned to 9p11.2. Orientation indicated in parentheses is tentative; the presence of alpha-satellite-like repeats in the right-most portion of the 9p11.2-A sequence indicates that it runs telomere to centromere as drawn. (<?) Indicates that 2qFus homology could extend farther in direction of arrowhead. The small red symbols on stalks indicate the most recent Alu insertions in the 2qFus region and/or its paralogs. The most recently active families, AluYb8 and AluYa5, are indicated by squares and triangles, respectively, and circles indicate the older class of AluY elements. Filled and open symbols indicate that the particular element is present or absent, respectively. The partially filled symbol in 9pter indicates that this AluYb8 element is not present in all 9pter alleles (see text). The asterisks mark the position of a highly variable SATR1 repeat common to at least four of the paralogous segments; it is 15,109 bp long in 9q13, 15,021 bp in 9p11.2-B, 4919 bp in 9pter, and 3881 bp in 2qFus.
