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. 1999 May;9(5):428–436.

Figure 1.

Figure 1

Schematic representation of the human WS region. A working model of the long-range physical organization of the human WS region is depicted based on data generated in numerous studies (Osborne et al. 1996, 1997a,b; Perez Jurado et al. 1996, 1998; Robinson et al. 1996; Wang et al. 1997; Lu et al. 1998; Meng et al. 1998a; E.D. Green and B.J. Trask, unpubl.). The relative positions (not to scale) of key gene/pseudogene sequences and genetic markers are indicated. A middle, single-copy region contains numerous known genes [FKBP6 (Meng et al. 1998b), FZD3 (Wang et al. 1997), WSTF (Lu et al. 1998), BCL7B (Jadayel et al. 1998; Meng et al. 1998a), WS–βTRP (Meng et al. 1998a), WS-bHLH (Meng et al. 1998a), STX1A (Osborne et al. 1997b; Nakayama et al. 1998), ELN (Ewart et al. 1993), LIMK1 (Frangiskakis et al. 1996; Tassabehji et al. 1996), WSCR1 (Osborne et al. 1996), RFC2 (Peoples et al. 1996), CYLN2 (Hoogenraad et al. 1998)]. This region is flanked by several large (estimated at ∼200–300 kb) genomic segments of nearly identical composition (represented by stippled boxes), each of which contains the indicated gene/pseudogene sequences [GTF2I/GTF2IP1 (Perez Jurado et al. 1998), PMS2L (Osborne et al. 1997a), p47–phox/p47–phox-P (Gorlach et al. 1997)]. Note that the relative order of the latter within the duplicated segments has not been established nor has the presence of GTF2IP1 in all the duplicated segments (reflected by the ? after GTF2IP1 in the far left duplicated segment). The genomic segment commonly deleted in WS that spans ∼1.5–2.0 Mb is indicated along the bottom (Osborne et al. 1996; Perez Jurado et al . 1996; Robinson et al. 1996; Urban et al. 1996; Wang et al. 1997; Meng et al. 1998a; Wu et al. 1998).