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Wiley, FEBS Letters, 1(505), p. 13-17, 2001

DOI: 10.1016/s0014-5793(01)02682-5

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

Journal article published in 2001 by Thomas Grimm, Stephan Teglund, Darci Tackels, Eugenio Sangiorgi ORCID, Fiorella Gurrieri, Charles Schwartz, Rune Toftgård
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.