
<ArticleTitle>Genomic organization and embryonic expression of <prot>Suppressor of <prot>Fused</prot></prot>, a candidate gene for the split-hand/split-foot malformation type 3.</ArticleTitle>
<AbstractText>The genes for human and mouse <prot>Suppressor of <prot>Fused</prot></prot> (<prot>SU(<prot>FU</prot>)</prot>/<prot>Su(<prot>Fu</prot>)</prot>) in the Hedgehog signaling pathway were characterized and found to contain 12 exons. Human <prot>SU(<prot>FU</prot>)</prot> localized on chromosome 10q24-25 between the markers D10S192 and AFM183XB12. We detected three additional <prot>SU(<prot>FU</prot>)</prot> isoforms, two of which have lost their ability to interact with the transcription factor <prot>GLI1</prot>. Expression analysis using whole mount in situ hybridization revealed strong expression of <prot>Su(<prot>Fu</prot>)</prot> in various mouse embryonic tissues. <prot>SU(<prot>FU</prot>)</prot> was considered a candidate gene for the split-hand/split-foot <prot>malformation type 3</prot> (<prot>SHFM3</prot>). However, no alterations in the <prot>SU(<prot>FU</prot>)</prot> gene were found in <prot>SHFM3</prot> patients.</AbstractText>
