Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart
Abstract
Human mutations in TBX5, a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc-finger transcription factor, cause similar upper limb and heart defects. Here we show that Tbx5 regulates Sall4 expression in the developing mouse forelimb and heart; mice heterozygous for a gene trap allele of Sall4 show limb and heart defects that model human disease. Tbx5 and Sall4 interact both positively and negatively to finely regulate patterning and morphogenesis of the anterior forelimb and heart. Thus, a positive and negative feed-forward circuit between Tbx5 and Sall4 ensures precise patterning of embryonic limb and heart and provides a unifying mechanism for heart/hand syndromes.
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Heterozygous SALL4 mutation in mice causes defects in multiple organs including the nervous system, limbs, kidneys, heart, and anorectal tract.
“Heterozygous SALL4 mutation in mice causes defects in multiple organs including the nervous system, limbs, kidneys, heart, and anorectal tract (Koshiba-Takeuchi et al, 2006; Sakaki-Yumoto et al, 2006).”
From Structure of SALL4 zinc finger domain reveals link between AT-rich DNA binding and Okihiro syndrome (2023) · cites this paper as Koshiba-Takeuchi et al, 2006
SALL4 is a spalt-like developmental transcription factor important for limb development.
“The robust down-regulation of SALL4, a spalt-like developmental transcription factor important for limb development (Koshiba-Takeuchi et al., 2006), upon treatment with thalidomide, lenalidomide, and pomalidomide prompted us to further investigate SALL4 as an IMiD-dependent target of CRL4CRBN.”
From Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome (2018) · cites this paper as Koshiba-Takeuchi et al., 2006
Mice carrying a heterozygous Sall4 genetrap allele show defects in heart and limb development, partially reminiscent of patients with DRRS or HOS.
“Mice carrying a heterozygous Sall4 genetrap allele show defects in heart and limb development, partially reminiscent of patients with DRRS or HOS (Koshiba-Takeuchi et al., 2006).”
From Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome (2018) · cites this paper as Koshiba-Takeuchi et al., 2006
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References 50 · Cited by 170
- Authors
- Koshiba-Takeuchi, K., Takeuchi, J. K., Arruda, E. P., Kathiriya, I. S., Mo, R., Hui, C.-C., Srivastava, D., & Bruneau, B. G.
- Affiliations
- University of Toronto (CA)
- The University of Texas Southwestern Medical Center (US)
- Hospital for Sick Children (CA)
- Corresponding author
- Bruneau, Benoit G
- Venue
- Nature Genetics
- Published
- 2005-12-25
- Volume
- 38
- Issue
- 2
- Pages
- 175-183
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2084090304
- Cited by
- 170
- References
- 50
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 8 · 2022: 2 · 2021: 9 · 2020: 4 · 2019: 6 · 2018: 12 · 2017: 9 · 2016: 11 · 2015: 9 · 2014: 13 · 2013: 8 · 2012: 7
- FWCI
- 3.14
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Keywords
- SALL4, TBX5, forelimb development, heart development, limb patterning, cardiac anomalies, upper limb defects, feedforward circuits, transcription factor interaction, mouse embryo
- MeSH terms
- Animals, DNA-Binding Proteins, Extremities, Forelimb, Heart, Heart Defects, Congenital, Mutation, Myocardium, Atrial Natriuretic Factor, Promoter Regions, Genetic, Protein Binding, Protein Precursors, RNA, Messenger, Transcription Factors, Transcriptional Activation, Limb Deformities, Congenital, Gene Expression Regulation, Developmental, Body Patterning, Natriuretic Peptide, C-Type, T-Box Domain Proteins, Mice, Fibroblast Growth Factor 10
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