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Mech Dev. 2001 Jun;104(1-2):143-6.

Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome.

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Institut für Humangenetik, Georg-August-Universität Göttingen, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.


SALL1 is one of three human homologues of the Drosophila region-specific homeotic gene spalt (sal). Mutations of SALL1 on chromosome 16q12.1 cause Townes--Brocks syndrome (TBS) which is characterized by defects in multiple organ systems including limbs, ears, kidneys and anus. Here, we have analyzed the expression of the mouse homologue of SALL1 (Sall1) during early embryogenesis. Sall1 expression is very prominent in the developing brain and the limbs. Other sites of expression include the meso- and metanephros, lens, olfactory bulbs, heart, primitive streak and the genital tubercle. Hence, Sall1 expression to a large degree reflects the structures affected in human TBS.

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