title: Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.
abstract: 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.
authors.affiliation: Department of Biosciences at NOVUM, Karolinska Institutet, Huddinge, Sweden.
authors.forename: T
authors.initials: T
authors.lastname: Grimm
authors.forename: S
authors.initials: S
authors.lastname: Teglund
authors.forename: D
authors.initials: D
authors.lastname: Tackels
authors.forename: E
authors.initials: E
authors.lastname: Sangiorgi
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: R
authors.initials: R
authors.lastname: Toftgård
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D005532:Foot Deformities, Congenital / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D005819:Genetic Markers; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D051379:Mice; D008815:Mice, Inbred Strains; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D012097:Repressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D005819:Genetic Markers; D012097:Repressor Proteins; C490764:SUFU protein, human; C490763:Sufu protein, mouse