The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.
DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy
Open accessAbstract
Facioscapulohumeral dystrophy (FSHD) is one of the most common inherited muscular dystrophies. The causative gene remains controversial and the mechanism of pathophysiology unknown. Here we identify genes associated with germline and early stem cell development as targets of the DUX4 transcription factor, a leading candidate gene for FSHD. The genes regulated by DUX4 are reliably detected in FSHD muscle but not in controls, providing direct support for the model that misexpression of DUX4 is a causal factor for FSHD. Additionally, we show that DUX4 binds and activates LTR elements from a class of MaLR endogenous primate retrotransposons and suppresses the innate immune response to viral infection, at least in part through the activation of DEFB103, a human defensin that can inhibit muscle differentiation. These findings suggest specific mechanisms of FSHD pathology and identify candidate biomarkers for disease diagnosis and progression.
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1 retracted
Lokireddy, S., McFarlane, C., Ge, X., Zhang, H., Sze, S. K., Sharma, M., & Kambadur, R. (2011) · Molecular Endocrinology · doi:10.1210/me.2011-1124 · Cited by 128
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Self-citationβ-Defensins: Linking Innate and Adaptive Immunity Through Dendritic and T Cell CCR6
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A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
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Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
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Cited by
Hendrickson, P. G., Doráis, J. A., Grow, E. J., Whiddon, J. L., Lim, J.-W., Wike, C. L., Weaver, B. D., Pflueger, C., Emery, B. R., Wilcox, A. L., et al. (2017) · Nature Genetics · doi:10.1038/ng.3844 · Cited by 734
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Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
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DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes
Choi, S. H., Gearhart, M. D., Cui, Z., Bosnakovski, D., Kim, M., Schennum, N., & Kyba, M. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw141 · Cited by 196
Metadata
- Authors
- Geng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., van der Maarel, S. M., Ruzzo, W. L., Gentleman, R. C., Tawil, R., & Tapscott, S. J.
- Venue
- Developmental Cell
- Publisher
- Elsevier BV
- Published
- 2012-01
- Volume
- 22
- Issue
- 1
- Pages
- 38-51
- ISSN
- 1534-5807 (ISSN-L)
- OpenAlex
- W2081357269
- Cited by
- 458
- References
- 55
- FWCI
- 8.23
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy. https://app.cochat.ai/papers/10.1016/j.devcel.2011.11.013
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- Geng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., van der Maarel, S. M., Ruzzo, W. L., Gentleman, R. C., Tawil, R., & Tapscott, S. J. (2012). DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy. Developmental Cell. https://doi.org/10.1016/j.devcel.2011.11.013
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
