Kohlhase J, Köhler A, Jäckle H, Engel W, Stick R
Institut für Humangenetik, Universität Göttingen, Göttingen, Germany.
Cytogenet Cell Genet. 1999;84(1-2):31-4. doi: 10.1159/000015206.
SALL1 and SALL2 have been identified as two human homologs of the region-specific homeotic gene spalt (sal) of Drosophila, which encodes a zinc finger protein of characteristic structure. SALL1 has recently been found to be mutated in patients with Townes-Brocks syndrome (TBS, OMIM No. 107480). Here we report the isolation and mapping of another sal-like human gene, named SALL1P, on chromosome Xp11.2. This intronless gene closely resembles SALL1 but displays several mutations, suggesting that SALL1P represents a sal-related pseudogene. The high similarity of SALL1P to SALL1 is of considerable importance for mutation analysis of SALL1 in TBS.
