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https://www.readbyqxmd.com/read/28643791/ewsr1-fusion-proteins-mediate-pax7-expression-in-ewing-sarcoma
#1
Gregory W Charville, Wei-Lien Wang, Davis R Ingram, Angshumoy Roy, Dafydd Thomas, Rajiv M Patel, Jason L Hornick, Matt van de Rijn, Alexander J Lazar
PAX7 is a paired-box transcription factor that is required for the developmental specification of adult skeletal muscle progenitors in mice. We previously demonstrated PAX7 expression as a marker of skeletal muscle differentiation in rhabdomyosarcoma. Here, using analyses of published whole-genome gene expression microarray data, we identify PAX7 as a gene with significantly increased expression in Ewing sarcoma in comparison to CIC-DUX4 round cell sarcoma. Analysis of PAX7 in a large cohort of 103 Ewing sarcoma cases by immunohistochemistry revealed expression in 99...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#2
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28593035/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#3
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28587678/smchd1-regulates-a-limited-set-of-gene-clusters-on-autosomal-chromosomes
#4
Amanda G Mason, Roderick C Slieker, Judit Balog, Richard J L F Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N Filippova, Enrico Ne, Rabi Tawil, Bas T Heijmans, Stephen J Tapscott, Silvère M van der Maarel
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrogene DUX4 in somatic cells, leading to the aberrant expression of DUX4 in the skeletal muscle. In mice, Smchd1 regulates chromatin repression at different loci, having a role in CpG methylation establishment and/or maintenance...
June 6, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28540412/a-distal-auxiliary-element-facilitates-cleavage-and-polyadenylation-of-dux4-mrna-in-the-pathogenic-haplotype-of-fshd
#5
Natoya Peart, Eric J Wagner
The degenerative muscle disorder facioscapulohumeral dystrophy (FSHD) is thought to be caused by the inappropriate expression of the Double Homeobox 4 (Dux4) protein in muscle cells leading to apoptosis. Expression of Dux4 in the major form of FSHD is a function of two contributing molecular changes: contractions in the D4Z4 microsatellite repeat region where Dux4 is located and an SNP present within a region downstream of the D4Z4. This SNP provides a functional, yet non-consensus polyadenylation signal (PAS) is used for the Dux4 mRNA 3' end processing...
May 24, 2017: Human Genetics
https://www.readbyqxmd.com/read/28493604/cic-break-apart-fluorescence-in-situ-hybridisation-misses-a-subset-of-cic-dux4-sarcomas-a-clinicopathological-and-molecular-study
#6
Akihiko Yoshida, Yasuhito Arai, Eisuke Kobayashi, Kan Yonemori, Koichi Ogura, Natsuko Hama, Wakako Mukai, Toru Motoi, Akira Kawai, Tatsuhiro Shibata, Nobuyoshi Hiraoka
AIMS: Approximately 60-70% of high-grade round-cell sarcomas that lack the EWSR1 rearrangement harbour a rearrangement of the CIC gene, most commonly CIC-DUX4. Recent studies have established that CIC-rearranged sarcomas constitute a distinct group characterised by recognisable histology and immunoprofiles, such as positivity for ETV4 and WT1 and negativity for NKX2.2. Although these sarcomas are increasingly diagnosed in practice by fluorescence in situ hybridisation (FISH) with CIC break-apart probes, the optimal modality to diagnose these sarcomas has not been determined...
May 11, 2017: Histopathology
https://www.readbyqxmd.com/read/28474974/primary-spinal-epidural-cic-dux4-undifferentiated-sarcoma-in-a-child
#7
John E Donahue, Evgeny Yakirevich, Shan Zhong, Diana O Treaba, Nelli S Lakis, Siraj M Ali, Suzanne M de la Monte, Shamlal Mangray
Primitive round- or spindle-cell EWSR1-negative undifferentiated sarcomas harboring CIC-DUX4 gene fusion are the most common form of Ewing-like sarcomas. These tumors primarily occur in peripheral soft tissues, but examples have been described within viscera and the brain. As far as we are aware, CIC-DUX4 positive primary epidural spinal sarcoma has not been reported. Herein, we describe a T5-T6 epidural tumor in a 15-year-old girl in which many neoplastic cells had moderate and focally abundant cytoplasm, including plasmacytoid or rhabdoid cells, rather than the more common Ewing-like morphology described in the majority of such tumors...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28466754/sarcoma-with-cic-dux4-gene-fusion
#8
Allirot Camille, Bidaut Anne-Sophie, Perret Cécile, Bobillier-Chaumont Severine, Pierron Gaelle, Delattre Olivier, Saada-Sebag Geraldine, Anne Mc Leer-Florin, Nika Eleni, Piolat Christian, Durand Chantal, Plantaz Dominique, Sartelet Hervé
Recent molecular advances have identified a novel sarcoma defined molecularly by oncogenic fusion of the genes CIC and DUX4 termed CIC-DUX4 sarcomas. The most common site of involvement was the trunk but some cases have been described in the head and neck and extremities. We report one of the first cases of primitive renal CIC-DUX4 sarcoma: a 12-year-old boy who presented a renal tumor, a vena cava thrombus, and lung metastases. The morphological and immunohistochemical analysis showed an undifferentiated sarcoma...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28459457/conserved-roles-of-mouse-dux-and-human-dux4-in-activating-cleavage-stage-genes-and-mervl-hervl-retrotransposons
#9
Peter G Hendrickson, Jessie A Doráis, Edward J Grow, Jennifer L Whiddon, Jong-Won Lim, Candice L Wike, Bradley D Weaver, Christian Pflueger, Benjamin R Emery, Aaron L Wilcox, David A Nix, C Matthew Peterson, Stephen J Tapscott, Douglas T Carrell, Bradley R Cairns
To better understand transcriptional regulation during human oogenesis and preimplantation development, we defined stage-specific transcription, which highlighted the cleavage stage as being highly distinctive. Here, we present multiple lines of evidence that a eutherian-specific multicopy retrogene, DUX4, encodes a transcription factor that activates hundreds of endogenous genes (for example, ZSCAN4, KDM4E and PRAMEF-family genes) and retroviral elements (MERVL/HERVL family) that define the cleavage-specific transcriptional programs in humans and mice...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28459456/dux-family-transcription-factors-regulate-zygotic-genome-activation-in-placental-mammals
#10
Alberto De Iaco, Evarist Planet, Andrea Coluccio, Sonia Verp, Julien Duc, Didier Trono
In animal embryos, transcription is mostly silent for several cell divisions, until the release of the first major wave of embryonic transcripts through so-called zygotic genome activation (ZGA). Maternally provided ZGA-triggering factors have been identified in Drosophila melanogaster and Danio rerio, but their mammalian homologs are still undefined. Here, we provide evidence that the DUX family of transcription factors is essential to this process in mice and potentially in humans. First, human DUX4 and mouse Dux are both expressed before ZGA in their respective species...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28459454/conservation-and-innovation-in-the-dux4-family-gene-network
#11
Jennifer L Whiddon, Ashlee T Langford, Chao-Jen Wong, Jun Wen Zhong, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD; MIM158900, MIM158901) is caused by misexpression of the DUX4 transcription factor in skeletal muscle. Animal models of FSHD are hindered by incomplete knowledge regarding the conservation of the DUX4 transcriptional program in other species. Despite the divergence of their binding motifs, both mouse DUX and human DUX4 in mouse and human muscle cells, respectively, activate genes associated with cleavage-stage embryos, including MERVL and ERVL-MaLR retrotransposons. We found that human DUX4 expressed in mouse cells maintained modest activation of cleavage-stage genes driven by conventional promoters but did not activate MERVL-promoted genes...
June 2017: Nature Genetics
https://www.readbyqxmd.com/read/28415578/high-expression-of-mir-125b-2-and-snord116-noncoding-rna-clusters-characterize-erg-related-b-cell-precursor-acute-lymphoblastic-leukemia
#12
Elena Vendramini, Marco Giordan, Emanuela Giarin, Barbara Michielotto, Grazia Fazio, Gianni Cazzaniga, Andrea Biondi, Daniela Silvestri, Maria Grazia Valsecchi, Martina U Muckenthaler, Andreas E Kulozik, Valter Gattei, Shai Izraeli, Giuseppe Basso, Geertruy Te Kronnie
ERG-related leukemia is a B cell precursor acute lymphoblastic leukemia (BCP ALL) subtype characterized by aberrant expression of DUX4 and ERG transcription factors, and highly recurrent ERG intragenic deletions. ERG-related patients have remarkably favorable outcome despite a high incidence of inauspicious IKZF1 aberrations.We describe clinical and genomic features of the ERG-related cases in an unselected cohort of B-other BCP ALL pediatric patients enrolled in the AIEOP ALL 2000 therapeutic protocol. We report a small noncoding RNA signature specific of ERG-related group, with up-regulation of miR-125b-2 cluster on chromosome 21 and several snoRNAs in the Prader-Willi locus at 15q11...
March 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/28404587/cic-dux4-induces-small-round-cell-sarcomas-distinct-from-ewing-sarcoma
#13
Toyoki Yoshimoto, Miwa Tanaka, Mizuki Homme, Yukari Yamazaki, Yutaka Takazawa, Cristina R Antonescu, Takuro Nakamura
CIC-DUX4 sarcoma (CDS) or CIC-rearranged sarcoma is a subcategory of small round cell sarcoma resembling the morphological phenotypes of Ewing sarcoma (ES). However, recent clinicopathologic and molecular genetic analyses indicate that CDS is an independent disease entity from ES. Few ancillary markers have been used in the differential diagnosis of CDS, and additional CDS-specific biomarkers are needed for more definitive classification. Here, we report the generation of an ex vivo mouse model for CDS by transducing embryonic mesenchymal cells (eMC) with human CIC-DUX4 cDNA...
April 12, 2017: Cancer Research
https://www.readbyqxmd.com/read/28346326/sarcomas-with-cic-rearrangements-are-a-distinct-pathologic-entity-with-aggressive-outcome-a-clinicopathologic-and-molecular-study-of-115-cases
#14
Cristina R Antonescu, Adepitan A Owosho, Lei Zhang, Sonja Chen, Kemal Deniz, Joseph M Huryn, Yu-Chien Kao, Shih-Chiang Huang, Samuel Singer, William Tap, Inga-Marie Schaefer, Christopher D Fletcher
CIC-DUX4 gene fusion, resulting from either a t(4;19) or t(10;19) translocation, is the most common genetic abnormality detected in EWSR1-negative small blue round cell tumors. Following their discovery it was debated if these tumors should be classified as variants of Ewing sarcoma (ie, atypical Ewing sarcoma) or as a stand-alone pathologic entity. As such the WHO classification temporarily grouped the CIC-rearranged tumors under undifferentiated sarcomas with round cell phenotype, until further clinical evidence was available...
July 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28278156/a-new-mode-of-dna-binding-distinguishes-capicua-from-other-hmg-box-factors-and-explains-its-mutation-patterns-in-cancer
#15
Marta Forés, Lucía Simón-Carrasco, Leiore Ajuria, Núria Samper, Sergio González-Crespo, Matthias Drosten, Mariano Barbacid, Gerardo Jiménez
HMG-box proteins, including Sox/SRY (Sox) and TCF/LEF1 (TCF) family members, bind DNA via their HMG-box. This binding, however, is relatively weak and both Sox and TCF factors employ distinct mechanisms for enhancing their affinity and specificity for DNA. Here we report that Capicua (CIC), an HMG-box transcriptional repressor involved in Ras/MAPK signaling and cancer progression, employs an additional distinct mode of DNA binding that enables selective recognition of its targets. We find that, contrary to previous assumptions, the HMG-box of CIC does not bind DNA alone but instead requires a distant motif (referred to as C1) present at the C-terminus of all CIC proteins...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28273791/antisense-oligonucleotides-used-to-target-the-dux4-mrna-as-therapeutic-approaches-in-faciosscapulohumeral-muscular-dystrophy-fshd
#16
Eugénie Ansseau, Céline Vanderplanck, Armelle Wauters, Scott Q Harper, Frédérique Coppée, Alexandra Belayew
FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary myopathies and is generally characterized by progressive muscle atrophy affecting the face, scapular fixators; upper arms and distal lower legs. The FSHD locus maps to a macrosatellite D4Z4 repeat array on chromosome 4q35. Each D4Z4 unit contains a DUX4 gene; the most distal of which is flanked by a polyadenylation site on FSHD-permissive alleles, which allows for production of stable DUX4 mRNAs. In addition, an open chromatin structure is required for DUX4 gene transcription...
March 3, 2017: Genes
https://www.readbyqxmd.com/read/28273136/dux4-induced-dsrna-and-myc-mrna-stabilization-activate-apoptotic-pathways-in-human-cell-models-of-facioscapulohumeral-dystrophy
#17
Sean C Shadle, Jun Wen Zhong, Amy E Campbell, Melissa L Conerly, Sujatha Jagannathan, Chao-Jen Wong, Timothy D Morello, Silvère M van der Maarel, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of DUX4 in skeletal muscle cells. DUX4 is a transcription factor that activates genes normally associated with stem cell biology and its mis-expression in FSHD cells results in apoptosis. To identify genes and pathways necessary for DUX4-mediated apoptosis, we performed an siRNA screen in an RD rhabdomyosarcoma cell line with an inducible DUX4 transgene. Our screen identified components of the MYC-mediated apoptotic pathway and the double-stranded RNA (dsRNA) innate immune response pathway as mediators of DUX4-induced apoptosis...
March 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28263188/estrogens-enhance-myoblast-differentiation-in-facioscapulohumeral-muscular-dystrophy-by-antagonizing-dux4-activity
#18
Emanuela Teveroni, Marsha Pellegrino, Sabrina Sacconi, Patrizia Calandra, Isabella Cascino, Stefano Farioli-Vecchioli, Angela Puma, Matteo Garibaldi, Roberta Morosetti, Giorgio Tasca, Enzo Ricci, Carlo Pietro Trevisan, Giuliana Galluzzi, Alfredo Pontecorvi, Marco Crescenzi, Giancarlo Deidda, Fabiola Moretti
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder that is characterized by extreme variability in symptoms, with females being less severely affected than males and presenting a higher proportion of asymptomatic carriers. The sex-related factors involved in the disease are not known. Here, we have utilized myoblasts isolated from FSHD patients (FSHD myoblasts) to investigate the effect of estrogens on muscle properties. Our results demonstrated that estrogens counteract the differentiation impairment of FSHD myoblasts without affecting cell proliferation or survival...
April 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28197724/histological-and-immunohistochemical-characteristics-of-undifferentiated-small-round-cell-sarcomas-associated-with-cic-dux4-and-bcor-ccnb3-fusion-genes
#19
Yuichi Yamada, Masaaki Kuda, Kenichi Kohashi, Hidetaka Yamamoto, Junkichi Takemoto, Takeaki Ishii, Kunio Iura, Akira Maekawa, Hirofumi Bekki, Takamichi Ito, Hiroshi Otsuka, Makoto Kuroda, Yumi Honda, Shinji Sumiyoshi, Takeshi Inoue, Naoe Kinoshita, Atsushi Nishida, Kyoko Yamashita, Ichiro Ito, Shizuo Komune, Tomoaki Taguchi, Yukihide Iwamoto, Yoshinao Oda
CIC-DUX4 and BCOR-CCNB3 fusion-gene-associated small round cell sarcomas account for a proportion of pediatric small round cell sarcomas, but their pathological features have not been sufficiently clarified. We reviewed a large number of soft tissue tumors registered at our institution, retrieved the cases of unclassified tumors with a small round cell component, and subjected them to histopathological, immunohistochemical, and gene profile analysis. We reviewed 164 cases of unclassified tumors with a small round cell component and analyzed them by RT-PCR and FISH...
April 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28173143/mouse-dux-is-myotoxic-and-shares-partial-functional-homology-with-its-human-paralog-dux4
#20
Jocelyn O Eidahl, Carlee R Giesige, Jacqueline S Domire, Lindsay M Wallace, Allison M Fowler, Susan M Guckes, Sara E Garwick-Coppens, Paul Labhart, Scott Q Harper
No abstract text is available yet for this article.
October 15, 2016: Human Molecular Genetics
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