Genomic organization and embryonic expression ofSuppressor of Fused, a candidate gene for the split‐hand/split‐foot malformation type 3
Copyright policy )Genomic organization and embryonic expression ofSuppressor of Fused, a candidate gene for the split‐hand/split‐foot malformation type 3
The genes for human and mouseSuppressor of Fused(SU(FU)/Su(Fu)) in the Hedgehog signaling pathway were characterized and found to contain 12 exons. HumanSU(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 ofSu(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 theSU(FU)gene were found in SHFM3 patients.
- Karolinska Institute Sweden
- Roma Tre University Italy
- Mid Sweden University Sweden
- Greenwood Genetic Center United States
- Södertörn University Sweden
Chromosome mapping, Genetic Markers, Base Sequence, Foot Deformities, Congenital, Chromosomes, Human, Pair 10, RNA Splicing, Molecular Sequence Data, Chromosome Mapping, Gene Expression Regulation, Developmental, Mice, Inbred Strains, Repressor Proteins, Mice, Mutation, Suppressor of Fused, Animals, Humans, Amino Acid Sequence, Split-hand/split-foot malformation, In situ hybridization, Hand Deformities, Congenital, In Situ Hybridization
Chromosome mapping, Genetic Markers, Base Sequence, Foot Deformities, Congenital, Chromosomes, Human, Pair 10, RNA Splicing, Molecular Sequence Data, Chromosome Mapping, Gene Expression Regulation, Developmental, Mice, Inbred Strains, Repressor Proteins, Mice, Mutation, Suppressor of Fused, Animals, Humans, Amino Acid Sequence, Split-hand/split-foot malformation, In situ hybridization, Hand Deformities, Congenital, In Situ Hybridization
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