The spalt family of transcriptional repressors has been implicated in limb, heart, ear and kidney development and truncating mutations in a human gene, SALL1, result in the autosomal dominant disorder Townes-Brocks syndrome. Here we show the expression pattern of the chick orthologue of the SALL1 gene, csal1, during early development. We found csal1 expression in the heart and in the pharynx, a source of inductive signals during heart development. Expression was also seen in involuting mesoderm and later in presegmented paraxial mesoderm. We also describe expression in the ectoderm and neural plate of the early embryo and subsequent expression in the neural tube.
KEY WORDS: chick, csal1, Townes-Brocks syndrome, spalt, heartThe spalt zinc finger proteins, some of which have been shown to act as transcriptional repressors, have been implicated in various patterning events during development. A number of orthologues have been identified in Drosophila (Barrio et al., 1996), human (Kohlhase et al., 1996, Kohlhase et al., 1999a, Kohlhase et al., 2002, mouse (Ott et al., 1996, Buck et al., 2000, Kohlhase et al., 2002, Xenopus (Hollemann et al., 1996, Onuma et al., 1999, Onai et al., 2004, zebrafish (Camp et al., 2003), chick (Capdevila et al., 1999, Farrell and Munsterberg, 2000, Farrell et al., 2001 and Medaka (Koster et al., 1997). In Drosophila the related genes sal and salr are involved in the determination of the embryonic termini, wing patterning and tracheal branching (Kuhnlein et al., 1994, de Celis and Barrio, 2000, Barrio and de Celis, 2004. In human the autosomal dominant condition Townes-Brocks syndrome (TBS) is caused by mutations in SALL1 and patients present with defects in kidney, ear, anogenital, heart and limb development (Kohlhase et al., 1998). Most of the phenotypic features in TBS patients are variable, including heart defects which have been reported in some familial and spontaneous cases of TBS (Surka et al., 2001). The mutations resulting in TBS are premature stop codons predicted to lead to the production of a truncated SALL1 protein (Kohlhase et al., 1999b). Recent work has strongly suggested that such a truncated protein can act as a dominant negative allele interfering with the function of full length SALL1 and possibly other spalt proteins (Netzer et al., 2001, McLeskey Kiefer et al., 2002, Sweetman et al., 2003. This view has been confirmed by the production of mice expressing a truncated Sall1 protein. Malformations in mice expressing this truncated protein are similar to those seen in TBS patients Int. J. Dev. Biol. 49: 427-430 (2005) (McLeskey Kiefer et al., 2003).In the chick three members of the spalt family have been described so far, csal1, csal3 and csal4. We have previously characterized the expression of csal1 at later developmental stages where transcripts were detected in the CNS, tail bud and developing limb buds. Furthermore, we demonstrated that csal1 expression is regulated by members of the FGF and Wnt families of proteins during limb development (Farrell an...