Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3

The genes for human and mouse Suppressor of Fused (SU(FU)/Su(Fu)) in the He dgehog signaling pathway were characterized and found to contain 12 exons. Human SU(FU) localized on chromosome 10q24-25 between the markers D10S192 a nd AFM183XB12. We detected three additional SU(FU) isoforms, two of which h ave lost their ability to interact with the transcription factor GLI1. Expr ession analysis using whole mount in situ hybridization revealed strong exp ression of Su(Fu) in various mouse embryonic tissues. SU(FU) was considered a candidate gene for the split-hand/split-foot malformation type 3 (SHFM3) . However, no alterations in the SU(FU) gene were found in SHFM3 patients. (C) 2001 Federation of European Biochemical Societies. Published by Elsevie r Science B.V. All rights reserved.