The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome
Abstract
Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development. Tbx3 is a member of a family of transcription factors that share a highly conserved DNA-binding domain known as the T-domain. UMS-causing mutations in Tbx3 have been found at numerous sites within the TBX3 gene, with many occurring downstream from the N-terminally located T-domain. The occurrence of mutations downstream of the DNA-binding domain raises the possibility that there exist important functional domains in C-terminal portions of the Tbx3 protein that affect its behavior as a transcription factor. To determine if and how such C-terminal mutations affect transcription we have mapped regions that confer transcriptional activity and nuclear localization and characterized the DNA binding properties of Tbx3. We find that Tbx3 binds the canonical Brachyury binding site as a monomer and represses transcription. We show that a key repression domain (RD1) resides in the Tbx3 C-terminus that can function as a portable repression domain. Most UMS-associated C-terminal mutants lack the RD1 and exhibit decreased or loss of transcriptional repression activity. In addition, we identify a domain responsible for nuclear localization of Tbx3 and show that two C-terminal mutants of Tbx3 have increased rates of protein decay. Finally, we show that Tbx3 can immortalize primary embryo fibroblasts and that the RD1 repression…
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“It has been shown that Tbx3 shares a highly conserved DNA-binding domain and repression domain (RD) with Tbx2.19–21”
In the citing paper
“TBX3 functions predominantly as a transcriptional repressor.”
From The oncoprotein TBX3 is controlling severity in experimental arthritis (2019) · cites this paper as [17]
Citations
Cites
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J., Grayzel, D. M., Kroumpouzou, E., Traill, T. A., LeBlanc-Straceski, J., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-30 · Cited by 1,090
Nonsense-mediated mRNA decayin health and disease
Frischmeyer, P. A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1893 · Cited by 991
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
Qy, L., Newbury-Ecob, R. A., Ja, T., Wilson, D. I., Curtis, A. R. J., Yi, C., Gebuhr, T., Bullen, P., Robson, S. C., Strachan, T., et al. (1997) · Nature Genetics · doi:10.1038/ng0197-21 · Cited by 922
Chen, C. A., & Okayama, H. (1990) · PubMed · Cited by 898
Cloning of the T gene required in mesoderm formation in the mouse
Herrmann, B. G., Labeit, S., Poustka, A., King, T. R., & Lehrach, H. R. (1990) · Nature · doi:10.1038/343617a0 · Cited by 839
Sherr, C. J., & Weber, J. D. (2000) · Current Opinion in Genetics & Development · doi:10.1016/s0959-437x(99)00038-6 · Cited by 654
A vector for expressing GAL4(1–147) fusions tn mammalian cells
Sadowski, I., & Ptashne, M. (1989) · Nucleic Acids Research · doi:10.1093/nar/17.18.7539 · Cited by 546
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
Bamshad, M., Lin, R. C., Law, D. J., Watkins, W. S., Krakowiak, P. A., Moore, M. E., Franceschini, P., Lala, R., Holmes, L. B., Gebuhr, T. C., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-311 · Cited by 540
Correction to: The Brachyury gene encodes a novel DNA binding protein.
Kispert, A., & Hermann, B. G. (1993) · The EMBO Journal · doi:10.1002/j.1460-2075.1993.tb06179.x · Cited by 403
Jacobs, J. J. L., Keblusek, P., Robanus-Maandag, E., Kristel, P., Lingbeek, M., Nederlof, P. M., van Welsem, T., van de Vijver, M. J., Koh, E. Y., Daley, G. Q., et al. (2000) · Nature Genetics · doi:10.1038/81583 · Cited by 368
Cited by
Sorted by citations
Farooqi, I. S., & O’Rahilly, S. (2005) · Annual Review of Medicine · doi:10.1146/annurev.med.56.062904.144924 · Cited by 452
T-Box Genes in Vertebrate Development
Naiche, L. A., Harrelson, Z., Kelly, R. G., & Papaioannou, V. E. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.073003.105925 · Cited by 437
The T-box gene family: emerging roles in development, stem cells and cancer
Papaioannou, V. E. (2014) · Development · doi:10.1242/dev.104471 · Cited by 293
Harrelson, Z., Kelly, R. G., Goldin, S. N., Gibson‐Brown, J. J., Bollag, R. J., Silver, L. M., & Papaioannou, V. E. (2004) · Development · doi:10.1242/dev.01378 · Cited by 302
Davenport, T. G., Jerome-Majewska, L. A., & Papaioannou, V. E. (2003) · Development · doi:10.1242/dev.00431 · Cited by 295
Metadata
- Authors
- Carlson, H.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Carlson, H.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-10-01
- Volume
- 10
- Issue
- 21
- Pages
- 2403-2413
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2142480298
- Cited by
- 108
- References
- 24
- Citations by year
- 2025: 3 · 2024: 5 · 2023: 4 · 2022: 5 · 2021: 1 · 2020: 1 · 2019: 3 · 2018: 5 · 2017: 3 · 2016: 2 · 2015: 1 · 2014: 8 · 2013: 8 · 2012: 9
- FWCI
- 1.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Shriners Hospitals for Children
- National Institutes of Health
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK048796, DK48796)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- TBX3, ulnar-mammary syndrome, transcriptional repression, repression domain, C-terminal mutations, nuclear localization, protein stability, cell immortalization, T-domain, transcription factor domains, autosomal dominant disorder
- MeSH terms
- Abnormalities, Multiple, Animals, Binding Sites, Breast, Cell Division, Cell Line, Cell Line, Transformed, DNA-Binding Proteins, Embryo, Mammalian, Female, Fibroblasts, Fungal Proteins, Gene Expression Regulation, Humans, Luciferases, Mutation, Promoter Regions, Genetic, Recombinant Fusion Proteins, Regulatory Sequences, Nucleic Acid, Syndrome, Transcription Factors, Transcription, Genetic, Transfection, Ulna, 3T3 Cells, Cellular Senescence, Limb Deformities, Congenital, T-Box Domain Proteins, Saccharomyces cerevisiae Proteins, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
