Figure 2

Gel electrophoresis of der(2) and der(8) junction fragments, and bkp sequence alignments. (left side) The der(2) (a) and the der(8) (b) bkp junction fragments were amplified with the primer pairs AF130342-1RW/AC007131-4RW, and AF130342-3FW/AC007131-5FW, respectively, producing a ~700 and ~600 bp fragments. (right side) Electropherograms of der(2) (a) and der(8) (b) bkp junction fragments are shown with the respective alignments against the reference sequence. Positions of the bkps at DNA sequence level are indicated (human genome assembly GRCh37/hg19). Chromosome 8 sequence is in green; sequence related to chromosome 2 in blue; bases lost upon rearrangement in black; bases inserted de novo in red. The triple-tandem repeats of the ATAAGC de novo acquired hexamer are underlined with a solid line. The GenBank accession numbers of the submitted der(2) and der(8) junction fragment sequences are KJ561173 and KJ561174, respectively. (c) Ideogram of chromosome der(8), showing the relocation of the conserved non-coding element (CNE) VISTA enhancer hs836 at an approximate distance of 325 kb from the TRPS1 5′ region as a result of the translocation. The image is a modification of a version obtained from the UCSC Genome Browser [17].