The Genom of Homo sapiens.pdf

122 BAILEY AND EICHLERknown, but it is noteworthy that Alu repeat elements arefrequently observed at the breakpoints of segmental duplications(Bailey et al. 2003). It is possible that the unusualphylogeny of the Alu repeat family may have particularlypredisposed the primate genome to segmentalduplication. In addition to subtle structural events, it isalso becoming apparent that segmental duplications areassociated with large-scale structural changes originallyobserved in the early karyotype studies of human andgreat-ape chromosomes (Yunis and Prakash 1982). Todate, four of five large-scale chromosomal rearrangementsthat have been characterized at the molecular levelshow the presence of segmental duplications precisely atthe breakpoint (Nickerson et al. 1999; Stankiewicz et al.2001; Kehrer-Sawatzki et al. 2002; Eder et al. 2003). 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