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

被引：11

作者：

Grimm, T

Teglund, S

Tackels, D

Sangiorgi, E

Gurrieri, F

Schwartz, C

Toftgård, R ^{[1
]}

机构：

[1] Karolinska Inst, Novum, Dept Biosci, Ctr Nutr & Toxicol, SE-14157 Huddinge, Sweden

[2] Sodertorns Hogskola Univ Coll, SE-14104 Huddinge, Sweden

[3] Greenwood Genet Ctr, JC Self Res Inst, Ctr Mol Studies, Greenwood, SC 29646 USA

[4] Univ Sacred Heart, Inst Med Genet, I-00168 Rome, Italy

来源：

FEBS LETTERS | 2001年 / 505卷 / 01期

关键词：

Suppressor of Fused; split-hand/split-foot malformation; chromosome mapping; in situ hybridization;

D O I：

10.1016/S0014-5793(01)02682-5

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. (C) 2001 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

引用

页码：13 / 17

页数：5

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