The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
DUX4 , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
Open accessAbstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, paired-like homeodomain transcription factor 1 ( PITX1 ) was found specifically up-regulated in patients with FSHD. In addition, we showed that the double homeobox 4 gene ( DUX4 ) that maps within the D4Z4 repeat unit was up-regulated in patient myoblasts at both mRNA and protein level. We further showed that the DUX4 protein could activate transient expression of a luciferase reporter gene fused to the Pitx1 promoter as well as the endogenous Pitx1 gene in transfected C2C12 cells. In EMSAs, DUX4 specifically interacted with a 30-bp sequence 5′-CGGATGCTGTCTTCTAATTAGTTTGGACCC-3′ in the Pitx1 promoter. Mutations of the TAAT core affected Pitx1-LUC activation in C2C12 cells and DUX4 binding in vitro . Our results suggest that up-regulation of both DUX4 and PITX1 in FSHD muscles may play critical roles in the molecular mechanisms of the disease.
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Cites
Hindlimb patterning and mandible development require the Ptx1 gene
Lanctôt, C., Moreau, A., Chamberland, M., Tremblay, M. L., & Drouin, J. (1999) · Development · doi:10.1242/dev.126.9.1805 · Cited by 311
Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity
Logan, M., & Tabin, C. J. (1999) · Science · doi:10.1126/science.283.5408.1736 · Cited by 304
Tümpel, S., Cambronero, F., Ferretti, E., Blasi, F., Wiedemann, L. M., & Krumlauf, R. (2007) · Developmental Biology · doi:10.1016/j.ydbio.2006.10.029 · Cited by 79
Cited by
A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Lemmers, R. J. L. F., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., Straasheijm, K. R., Jan van Ommen, G., Padberg, G. W., et al. (2010) · Science · doi:10.1126/science.1189044 · Cited by 788
Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene
Snider, L., Geng, L. N., Lemmers, R. J. L. F., Kyba, M., Ware, C. B., Nelson, A. M., Tawil, R., Filippova, G. N., van der Maarel, S. M., Tapscott, S. J., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001181 · Cited by 503
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., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2011.11.013 · Cited by 458
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
Yasuda, T., Tsuzuki, S., Kawazu, M., Hayakawa, F., Kojima, S., Ueno, T., Imoto, N., Kohsaka, S., Kunita, A., Doi, K., et al. (2016) · Nature Genetics · doi:10.1038/ng.3535 · Cited by 265
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
- Dixit, M., Ansseau, E., Tassin, A., Winokur, S., Shi, R., Qian, H., Sauvage, S., Mattéotti, C., van Acker, A. M., Leo, O., Figlewicz, D., Barro, M., Laoudj-Chenivesse, D., Belayew, A., Coppée, F., & Chen, Y.-W.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2007-11-13
- Volume
- 104
- Issue
- 46
- Pages
- 18157-18162
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2093618454
- Cited by
- 387
- References
- 3
- FWCI
- 5.87
- Type
- journal article
- Language
- en
- Open access
- green
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- Dixit, M., Ansseau, E., Tassin, A., Winokur, S., Shi, R., Qian, H., Sauvage, S., Mattéotti, C., van Acker, A. M., Leo, O., Figlewicz, D., Barro, M., Laoudj-Chenivesse, D., Belayew, A., Coppée, F., & Chen, Y.-W. (2007). DUX4 , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0708659104
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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