Structure, mapping, and expression of human SOX18

SOX genes are found throughout the animal kingdom and encode a highly conserved family of transcription factors involved in a wide range of developmental processes (for review, see Wegner, 1999). SOX proteins bind DNA in a sequence-dependent manner via the HMG box domain, and many have been shown to have separable domains associated with transcriptional regulation. Several SOX genes have been implicated in inherited human disorders: SRY in male-to-female sex reversal and gonadal dysgenesis (Berta et al. 1990; Ja ger et al. 1990), SOX9 in the skeletal dys-morphogenesis syndrome campomelic dysplasia (Foster and Graves 1994; Wagner et al. 1994), and SOX10 in the neurochristopathy Waardenburg Shah syndrome-4 (Pingault et al. 1998). Furthermore, targeted disruption in mice has demonstrated vital roles for Sox4 in cardiac development (Schilham et al. 1996), Sox9 in chondrogenesis (Bi et al. 1999), and Sox1 in lens development (Nishiguchi et al. 1998).