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Genomic organization and embryonic expression of Suppressor of Fused , a candidate gene for the split‐hand/split‐foot malformation type 3
Author(s) -
Grimm Thomas,
Teglund Stephan,
Tackels Darci,
Sangiorgi Eugenio,
Gurrieri Fiorella,
Schwartz Charles,
Toftgård Rune
Publication year - 2001
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(01)02682-5
Subject(s) - gene , biology , gli1 , gene isoform , exon , genetics , hedgehog , suppressor , locus (genetics) , embryonic stem cell , gene expression , in situ hybridization , microbiology and biotechnology
The genes for human and mouse Suppressor of Fused ( SU(FU) / Su(Fu) ) in the Hedgehog signaling pathway were characterized and found to contain 12 exons. Human SU(FU) localized on chromosome 10q24–25 between the markers D10S192 and AFM183XB12. We detected three additional SU(FU) isoforms, two of which have lost their ability to interact with the transcription factor GLI1. Expression analysis using whole mount in situ hybridization revealed strong expression 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.