The DOI matches its Crossref record; 69 of the 69 references it cites were found in a registry or an index.
Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)
Open accessAbstract
Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy in which no mutation of pathogenic gene(s) has been identified. Instead, the disease is, in most cases, genetically linked to a contraction in the number of 3.3 kb D4Z4 repeats on chromosome 4q. How contraction of the 4qter D4Z4 repeats causes muscular dystrophy is not understood. In addition, a smaller group of FSHD cases are not associated with D4Z4 repeat contraction (termed "phenotypic" FSHD), and their etiology remains undefined. We carried out chromatin immunoprecipitation analysis using D4Z4-specific PCR primers to examine the D4Z4 chromatin structure in normal and patient cells as well as in small interfering RNA (siRNA)-treated cells. We found that SUV39H1-mediated H3K9 trimethylation at D4Z4 seen in normal cells is lost in FSHD. Furthermore, the loss of this histone modification occurs not only at the contracted 4q D4Z4 allele, but also at the genetically intact D4Z4 alleles on both chromosomes 4q and 10q, providing the first evidence that the genetic change (contraction) of one 4qD4Z4 allele spreads its effect to other genomic regions. Importantly, this epigenetic change was also observed in the phenotypic FSHD cases with no D4Z4 contraction, but not in other types of muscular dystrophies tested. We found that HP1gamma and cohesin are co-recruited to D4Z4 in an H3K9me3-dependent and cell type-specific manner, which is disrupted in FSHD. The results indicate that cohesin plays an active role in HP1 recruitment and is involved in cell type-specific D4Z4 chromatin regulation. Taken together, we identified the loss of both histone H3K9 trimethylation and HP1gamma/cohesin binding at D4Z4 to be a faithful marker for the FSHD phenotype. Based on these results, we propose a new model in which the epigenetic change initiated at 4q D4Z4 spreads its effect to other genomic regions, which compromises muscle-specific gene regulation leading to FSHD pathogenesis.
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1 retracted
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Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain
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Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins
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Chromatin modification and epigenetic reprogramming in mammalian development
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Self-citationLooping and Interaction between Hypersensitive Sites in the Active β-globin Locus
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Cohesin mediates transcriptional insulation by CCCTC-binding factor
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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-citationNext-generation genomics: an integrative approach
Hawkins, R. D., Hon, G. C., & Ren, B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2795 · Cited by 593
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-citationGeng, 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
Self-citationDUX4 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
- 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., Kimonis, V. E., Balog, J., Frants, R. R., Ball, A. R., Lock, L. F., Donovan, P. J., van der Maarel, S. M., & Yokomori, K.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-07-10
- Volume
- 5
- Issue
- 7
- Pages
- e1000559
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2024736438
- Cited by
- 269
- References
- 69
- FWCI
- 9.36
- Type
- journal article
- Language
- en
- Open access
- gold
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- CoChat. (2026). Citation check: Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD). https://app.cochat.ai/papers/10.1371/journal.pgen.1000559
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- 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., Kimonis, V. E., Balog, J., Frants, R. R., Ball, A. R., Lock, L. F., Donovan, P. J., van der Maarel, S. M., & Yokomori, K. (2009). Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD). PLoS Genetics. https://doi.org/10.1371/journal.pgen.1000559
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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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