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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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
Retractedlumi: a pipeline for processing Illumina microarray
Du, P., Kibbe, W. A., & Lin, S. M. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn224 · Cited by 2,019
Using GOstats to test gene lists for GO term association
Falcon, S., & Gentleman, R. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btl567 · Cited by 2,015
Self-citationβ-Defensins: Linking Innate and Adaptive Immunity Through Dendritic and T Cell CCR6
Yang, D., Chertov, O., Bykovskaia, S. N., Chen, Q., Buffo, M. J., Shogan, J., Anderson, M., Schröder, J. M., Wang, J. M., Howard, O. M. Z., et al. (1999) · Science · doi:10.1126/science.286.5439.525 · Cited by 1,809
Cancer/testis antigens, gametogenesis and cancer
Simpson, A. J. G., Caballero, O. L., Jungbluth, A., Chen, Y.-T., & Old, L. J. (2005) · Nature Reviews Cancer · doi:10.1038/nrc1669 · Cited by 1,582
AMPed up immunity: how antimicrobial peptides have multiple roles in immune defense
Lai, Y., & Gallo, R. L. (2009) · Trends in Immunology · doi:10.1016/j.it.2008.12.003 · Cited by 1,276
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
Self-citationlimmaGUI: A graphical user interface for linear modeling of microarray data
Wettenhall, J. M., & Smyth, G. K. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth449 · Cited by 722
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
Wijmenga, C., Hewitt, J. E., Sandkuijl, L. A., Clark, L. N., Wright, T. J., Dauwerse, H. G., Gruter, A.-M., Hofker, M. H., Moerer, P., Williamson, R., et al. (1992) · Nature Genetics · doi:10.1038/ng0992-26 · Cited by 691
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
Self-citationGenome-wide MyoD Binding in Skeletal Muscle Cells: A Potential for Broad Cellular Reprogramming
Cao, Y., Yao, Z., Sarkar, D., Lawrence, M., Sanchez, G. J., Parker, M. H., MacQuarrie, K. L., Davison, J., Morgan, M. T., Ruzzo, W. L., et al. (2010) · Developmental Cell · doi:10.1016/j.devcel.2010.02.014 · Cited by 481
Self-citationKawamura-Saito, M., Yamazaki, Y., Kaneko, K., Kawaguchi, N., Kanda, H., Mukai, H., Gotoh, T., Motoi, T., Fukayama, M., Aburatani, H., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl136 · Cited by 459
Classification and nomenclature of all human homeobox genes
Holland, P. W., Booth, H. A. F., & Bruford, E. A. (2007) · BMC Biology · doi:10.1186/1741-7007-5-47 · Cited by 443
Zscan4 regulates telomere elongation and genomic stability in ES cells
Zalzman, M., Falco, G., Sharova, L. V., Nishiyama, A., Thomas, M., Lee, S.-L., Stagg, C. A., Hoang, H. G., Yang, H.-T., Indig, F. E., et al. (2010) · Nature · doi:10.1038/nature08882 · Cited by 441
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
van Overveld, P. G. M., Lemmers, R. J. F. L., Sandkuijl, L. A., Enthoven, L., Winokur, S. T., Bakels, F., Padberg, G. W., van Ommen, G.-J. B., Frants, R. R., & van der Maarel, S. M. (2003) · Nature Genetics · doi:10.1038/ng1262 · Cited by 421
Self-citationInappropriate Gene Activation in FSHD
Gabellini, D., Green, M. R., & Tupler, R. (2002) · Cell · doi:10.1016/s0092-8674(02)00826-7 · Cited by 400
Dixit, M., Ansseau, E., Tassin, A., Winokur, S., Shi, R., Qian, H., Sauvage, S., Mattéotti, C., van Acker, A. M., Leo, O., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708659104 · Cited by 387
Human β-defensin-3 activates professional antigen-presenting cells via Toll-like receptors 1 and 2
Funderburg, N., Lederman, M. M., Feng, Z., Drage, M. G., Jadlowsky, J., Harding, C. V., Weinberg, A., & Sieg, S. F. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0702130104 · Cited by 373
A β-Defensin Mutation Causes Black Coat Color in Domestic Dogs
Candille, S. I., Kaelin, C. B., Cattanach, B. M., Yu, B., Thompson, D. A., Nix, M. A., Kerns, J. A., Schmutz, S. M., Millhauser, G. L., & Barsh, G. S. (2007) · Science · doi:10.1126/science.1147880 · Cited by 354
Gabriëls, J., Beckers, M.-C., Ding, H., De Vriese, A., Plaisance, S., van der Maarel, S. M., Padberg, G. W., Frants, R. R., Hewitt, J. E., Collen, D., et al. (1999) · Gene · doi:10.1016/s0378-1119(99)00267-x · Cited by 353
Self-citationThe DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein
Kowaljow, V., Marcowycz, A., Ansseau, E., Conde, C. B., Sauvage, S., Mattéotti, C., Arias, C., Corona, E. D., Nuñez, N. G., Leo, O., et al. (2007) · Neuromuscular Disorders · doi:10.1016/j.nmd.2007.04.002 · Cited by 339
Bosnakovski, D., Xu, Z., Ji Gang, E., Galindo, C. L., Liu, M., Simsek, T., Garner, H. R., Agha‐Mohammadi, S., Tassin, A., Coppée, F., et al. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.201 · Cited by 321
Zeng, W., de Greef, J. C., Chen, Y.-Y., Chien, R., Kong, X., Gregson, H. C., Winokur, S. T., Pyle, A., Robertson, K. D., Schmiesing, J. A., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000559 · Cited by 269
Self-citationHuman β-Defensin 3 Inhibits Cell Wall Biosynthesis in Staphylococci
Sass, V., Schneider, T., Wilmes, M., Körner, C., Tossi, A., Novikova, N., Shamova, O., & Sahl, H.-G. (2010) · Infection and Immunity · doi:10.1128/iai.00688-09 · Cited by 254
Wallace, L. M., Garwick, S. E., Mei, W., Belayew, A., Coppee, F., Ladner, K. J., Guttridge, D., Yang, J., & Harper, S. Q. (2011) · Annals of Neurology · doi:10.1002/ana.22275 · Cited by 240
Identification of a new, abundant superfamily of mammalian LTR-transposons
Smit, A. F. A. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.8.1863 · Cited by 234
Midorikawa, K., Ouhara, K., Komatsuzawa, H., Kawai, T., Yamada, S., Fujiwara, T., Yamazaki, K., Sayama, K., Taubman, M. A., Kurihara, H., et al. (2003) · Infection and Immunity · doi:10.1128/iai.71.7.3730-3739.2003 · Cited by 234
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1
Gabellini, D., D'Antona, G., Moggio, M., Prelle, A., Zecca, C., Adami, R., Angeletti, B., Ciscato, P., Pellegrino, M. A., Bottinelli, R., et al. (2006) · Nature · doi:10.1038/nature04422 · Cited by 220
Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD
de Greef, J. C., Lemmers, R. J. L. F., van Engelen, B. G. M., Sacconi, S., Venance, S. L., Frants, R. R., Tawil, R., & van der Maarel, S. M. (2009) · Human Mutation · doi:10.1002/humu.21091 · Cited by 217
Self-citationThe FSHD Atrophic Myotube Phenotype Is Caused by DUX4 Expression
Vanderplanck, C., Ansseau, E., Charron, S., Stricwant, N., Tassin, A., Laoudj-Chenivesse, D., Wilton, S. D., Coppée, F., & Belayew, A. (2011) · PLoS ONE · doi:10.1371/journal.pone.0026820 · Cited by 208
All y’all need to know ‘bout retroelements in cancer
Belancio, V. P., Roy-Engel, A. M., & Deininger, P. L. (2010) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2010.06.001 · Cited by 188
Human β‐defensin 3 has immunosuppressive activity in vitro and in vivo
Semple, F., Webb, S., Li, H., Patel, H. B., Perretti, M., Jackson, I. J., Gray, M., Davidson, D. J., & Dorin, J. R. (2010) · European Journal of Immunology · doi:10.1002/eji.200940041 · Cited by 184
Cutting Edge: Human β Defensin 3—A Novel Antagonist of the HIV-1 Coreceptor CXCR4
Feng, Z., Dubyak, G. R., Lederman, M. M., & Weinberg, A. (2006) · The Journal of Immunology · doi:10.4049/jimmunol.177.2.782 · Cited by 170
Lyle, R., Wright, T. J., Clark, L. N., & Hewitt, J. E. (1995) · Genomics · doi:10.1006/geno.1995.1166 · Cited by 168
Clapp, J., Mitchell, L. M., Bolland, D. J., Fantes, J., Corcoran, A. E., Scotting, P. J., Armour, J. A. L., & Hewitt, J. E. (2007) · The American Journal of Human Genetics · doi:10.1086/519311 · Cited by 167
Chemokine expression and control of muscle cell migration during myogenesis
Griffin, C. A., Apponi, L. H., Long, K. K., & Pavlath, G. K. (2010) · Journal of Cell Science · doi:10.1242/jcs.066241 · Cited by 160
Jin, G., Kawsar, H. I., Hirsch, S. A., Zeng, C., Jia, X., Feng, Z., Ghosh, S. K., Zheng, Q. Y., Zhou, A., McIntyre, T. M., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010993 · Cited by 153
Frisullo, G., Frusciante, R., Nociti, V., Tasca, G. A., Renna, R., Iorio, R., Patanella, A. K., Iannaccone, E., Marti, A., Rossi, M., et al. (2010) · Journal of Clinical Immunology · doi:10.1007/s10875-010-9474-6 · Cited by 147
Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages
Palii, C. G., Perez‐Iratxeta, C., Yao, Z., Cao, Y., Dai, F., Davison, J., Atkins, H. L., Allan, D., Dilworth, F. J., Gentleman, R. C., et al. (2010) · The EMBO Journal · doi:10.1038/emboj.2010.342 · Cited by 144
Self-citationHuman β‐defensin 3 affects the activity of pro‐inflammatory pathways associated with MyD88 and TRIF
Semple, F., Macpherson, H. K., Webb, S., Cox, S. L., Mallin, L. J., Tyrrell, C., Grimes, G. R., Semple, C. A. M., Nix, M. A., Millhauser, G. L., et al. (2011) · European Journal of Immunology · doi:10.1002/eji.201141648 · Cited by 144
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Tupler, R. G., Berardinelli, A. L., Barbierato, L., et al. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.5.366 · Cited by 135
Laoudj‐Chenivesse, D., Carnac, G., Bisbal, C., Hugon, G., Bouillot, S., Desnuelle, C., Vassetzky, Y. S., & Fernandez, A. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0583-7 · Cited by 121
L1 Retrotransposons in Human Cancers
Schulz, W. A. (2006) · BioMed Research International · doi:10.1155/jbb/2006/83672 · Cited by 102
Testing the effects of FSHD candidate gene expression in vertebrate muscle development.
Wuebbles, R. D., Long, S. W., Hanel, M. L., & Jones, P. L. (2010) · PubMed · Cited by 80
Pierre, A., Gautier, M., Callebaut, I., Bontoux, M., Jeanpierre, E., Pontarotti, P., & Monget, P. (2007) · Genomics · doi:10.1016/j.ygeno.2007.06.003 · Cited by 73
Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level
Klooster, R., Straasheijm, K. R., Shah, B., Sowden, J. E., Frants, R. R., Thornton, C. A., Tawil, R., & van der Maarel, S. M. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.62 · Cited by 63
Self-citationThe Expansion of the PRAME Gene Family in Eutheria
Chang, T.-C., Yang, Y., Yasue, H., Bharti, A. K., Retzel, E. F., & Liu, W.-S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016867 · Cited by 50
Jiang, C.-L., Jin, S., Lee, D.-H., Lan, Z., Xu, X., O'Connor, T. R., Szabó, P. E., Mann, J. R., Cooney, A. J., & Pfeifer, G. P. (2002) · Genomics · doi:10.1006/geno.2002.7001 · Cited by 49
Immunodetection of Human Double Homeobox 4
Geng, L. N., Tyler, A. E., & Tapscott, S. J. (2011) · Hybridoma · doi:10.1089/hyb.2010.0094 · Cited by 49
Self-citationInduction of myogenic differentiation by SDF‐1 via CXCR4 and CXCR7 receptors
Melchionna, R., Carlo, A. D., Mori, R. D., Cappuzzello, C., Barberi, L., Musarò, A., Cencioni, C., Fujii, N., Tamamura, H., Crescenzi, M., et al. (2010) · Muscle & Nerve · doi:10.1002/mus.21611 · Cited by 47
Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy
Reed, P. W., Corse, A. M., Porter, N. C., Flanigan, K. M., & Bloch, R. J. (2007) · Experimental Neurology · doi:10.1016/j.expneurol.2007.03.009 · Cited by 40
Evolutionary Forces Shape the Human RFPL1,2,3 Genes toward a Role in Neocortex Development
Bonnefont, J., Nikolaev, S. I., Perrier, A. L., Guo, S., Cartier, L., Sorce, S., Laforge, T., Aubry, L., Khaitovich, P., Peschanski, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.07.007 · Cited by 32
Bosch, N., Cáceres, M., Cardone, M. F., Carreras, A., Ballana, E., Rocchi, M., Armengol, L., & Estivill, X. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm209 · Cited by 30
Wu, S., Tsai, M., Wong, S., et al. (2010) · Developmental Dynamics · doi:10.1002/dvdy.22210 · Cited by 26
β-Defensin overexpression induces progressive muscle degeneration in mice
Yamaguchi, Y., Nagase, T., Tomita, T., Nakamura, K., Fukuhara, S., Amano, T., Yamamoto, H., Ide, Y., Suzuki, M., Teramoto, S., et al. (2007) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00295.2006 · Cited by 23
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
Self-citationMechanisms regulating zygotic genome activation
Schulz, K. N., & Harrison, M. M. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-018-0087-x · Cited by 555
Motzer, R. J., Robbins, P. B., Powles, T., Albiges, L., Haanen, J. B., Larkin, J., Mu, X. J., Ching, K. A., Uemura, M., Pal, S. K., et al. (2020) · Nature Medicine · doi:10.1038/s41591-020-1044-8 · Cited by 518
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
- 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
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
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
