Breakpoints on human 17p13 and 17q21.3. A, Repeat organization of the regions that harbor the inversion breakpoints on human 17p13 and human 17q21.3 as determined by the Repeat Masker program. The breakpoints were found in regions rich in repeats such as Alu elements (including a free right arm Alu-monomer [FRAM]), medium reiteration-frequency repeats (MER), parts of LINEs (L1, L2, L1MC3, and L1Mec), and LTR-element family members/mammalian retrotransposon-like superfamily (MLT1K and MSTA). The breakpoint is indicated by a double-headed arrow. B, Aligned sequences of human 17q21.3 in red letters and human 17p13 in blue letters and the respective sequences from chimpanzee 19p and 19q spanning the inversion breakpoints. The pentamer repeat GGGGT at the breakpoints is underlined. The 26-bp core sequence of the AluSq-element is marked by a box. At the human 17p breakpoint, a sequence with 83% similarity to the consensus topoisomerase IIv cleavage site is highlighted in yellow.