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Richter, Günther H. S. ; Hensel, Tim ; Schmidt, Oxana ; Saratov, Vadim ; Heyking, Kristina von ; Becker-Dettling, Fiona ; Prexler, Carolin ; Yen, Hsi-Yu ; Steiger, Katja ; Fulda, Simone ; Dirksen, Uta ; Weichert, Wilko ; Wang, Shudong ; Burdach, Stefan ; Schäfer, Beat W.
Background: Previously, we used inhibitors blocking BET bromodomain binding proteins (BRDs) in Ewing sarcoma (EwS) and observed that long term treatment resulted in the development of resistance. Here, we analyze the possible interaction of BRD4 with cyclin-dependent kinase (CDK) 9. Methods: Co-immunoprecipitation experiments (CoIP) to characterize BRD4 interaction and functional consequences of inhibiting transcriptional elongation were assessed using drugs targeting of BRD4 or CDK9, either alone or in combination. Results: CoIP revealed an interaction of BRD4 with EWS-FLI1 and CDK9 in EwS. Treatment of EwS cells with CDKI-73, a specific CDK9 inhibitor (CDK9i), induced a rapid downregulation of EWS-FLI1 expression and block of contact-dependent growth. CDKI-73 induced apoptosis in EwS, as depicted by cleavage of Caspase 7 (CASP7), PARP and increased CASP3 activity, similar to JQ1. Microarray analysis following CDKI-73 treatment uncovered a transcriptional program that was only partially comparable to BRD inhibition. Strikingly, combined treatment of EwS with BRD- and CDK9-inhibitors re-sensitized cells, and was overall more effective than individual drugs not only in vitro but also in a preclinical mouse model in vivo. Conclusion: Treatment with BRD inhibitors in combination with CDK9i offers a new treatment option that significantly blocks the pathognomonic EWS-ETS transcriptional program and malignant phenotype of EwS.
Casey, Jillian P. ; Magalhães, Tiago R. ; Conroy, Judith M. ; Regan, Regina ; Shah, Naisha ; Anney, Richard ; Shields, Denis C. ; Abrahams, Brett S. ; Almeida, Joana ; Bacchelli, Elena ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Berney, Tom ; Bolshakova, Nadia ; Bolton, Patrick F. ; Bourgeron, Thomas ; Brennan, Sean ; Cali, Phil ; Correia, Catarina ; Corsello, Christina ; Coutanche, Marc ; Dawson, Geraldine ; Jonge, Maretha de ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Farrar, Penny ; Fernandez, Bridget A. ; Folstein, Susan E. ; Foley, Suzanne ; Fombonne, Eric ; Freitag, Christine M. ; Gilbert, John ; Gillberg, Christopher ; Glessner, Joseph T. ; Green, Jonathan ; Guter, Stephen J. ; Hakonarson, Hakon ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Igliozzi, Roberta ; Kim, Cecilia ; Klauck, Sabine M. ; Kolevzon, Alexander ; Lamb, Janine A. ; Leboyer, Marion ; Le Couteur, Ann ; Leventhal, Bennett L. ; Lord, Catherine ; Lund, Sabata C. ; Maestrini, Elena ; Mantoulan, Carine ; Marshall, Christian R. ; McConachie, Helen ; McDougle, Christopher J. ; McGrath, Jane ; McMahon, William M. ; Merikangas, Alison ; Miller, Judith ; Minopoli, Fiorella ; Mirza, Ghazala K. ; Munson, Jeff ; Nelson, Stanley F. ; Nygren, Gudrun ; Oliveira, Guiomar ; Pagnamenta, Alistair T. ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Parrini, Barbara ; Pickles, Andrew ; Pinto, Dalila ; Piven, Joseph ; Posey, David J. ; Poustka, Annemarie ; Poustka, Fritz ; Ragoussis, Jiannis ; Roge, Bernadette ; Rutter, Michael L. ; Sequeira, Ana F. ; Soorya, Latha ; Sousa, Inês ; Sykes, Nuala ; Stoppioni, Vera ; Tancredi, Raffaella ; Tauber, Maïté ; Thompson, Ann P. ; Thomson, Susanne ; Tsiantis, John ; Engeland, Herman van ; Vincent, John B. ; Volkmar, Fred ; Vorstman, Jacob A. S. ; Wallace, Simon ; Wang, Kai ; Wassink, Thomas H. ; White, Kathy ; Wing, Kirsty ; Wittemeyer, Kerstin ; Yaspan, Brian L. ; Zwaigenbaum, Lonnie ; Betancur, Catalina ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Geschwind, Daniel H. ; Haines, Jonathan L. ; Hallmayer, Joachim ; Monaco, Anthony P. ; Nurnberger, John I. ; Pericak-Vance, Margaret Ann ; Schellenberg, Gerard D. ; Scherer, Stephen W. ; Sutcliffe, James S. ; Szatmari, Peter ; Vieland, Veronica J. ; Wijsman, Ellen M. ; Green, Andrew ; Gill, Michael ; Gallagher, Louise ; Vicente, Astrid M. ; Ennis, Sean
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
Pinto, Dalila ; Delaby, Elsa ; Merico, Daniele ; Barbosa, Mafalda ; Merikangas, Alison ; Klei, Lambertus ; Thiruvahindrapuram, Bhooma ; Xu, Xiao ; Ziman, Robert ; Wang, Zhuozhi ; Vorstman, Jacob A. S. ; Thompson, Ann P. ; Regan, Regina ; Pilorge, Marion ; Pellecchia, Giovanna ; Pagnamenta, Alistair T. ; Oliveira, Bárbara ; Marshall, Christian R. ; Magalhães, Tiago R. ; Lowe, Jennifer K. ; Howe, Jennifer L. ; Griswold, Anthony J. ; Gilbert, John ; Duketis, Eftichia ; Dombroski, Beth A. ; Jonge, Maretha de ; Cuccaro, Michael L. ; Crawford, Emily L. ; Correia, Catarina T. ; Conroy, Judith ; Conceição, Inȇs C. ; Geburtig-Chiocchetti, Andreas ; Casey, Jillian P. ; Cai, Guiqing ; Cabrol, Christelle ; Bolshakova, Nadia ; Bacchelli, Elena ; Anney, Richard ; Gallinger, Steven ; Cotterchio, Michelle ; Casey, Graham ; Zwaigenbaum, Lonnie ; Wittemeyer, Kerstin ; Wing, Kirsty ; Wallace, Simon ; Engeland, Herman van ; Tryfon, Ana ; Thomson, Susanne ; Soorya, Latha ; Roge, Bernadette ; Roberts, Wendy ; Poustka, Fritz ; Mouga, Susana ; Minshew, Nancy J. ; McInnes, L. Alison ; McGrew, Susan G. ; Lord, Catherine ; Leboyer, Marion ; Le Couteur, Ann ; Kolevzon, Alexander ; González, Patricia Jiménez ; Jacob, Suma ; Holt, Richard ; Guter, Stephen J. ; Green, Jonathan ; Green, Andrew ; Gillberg, Christopher ; Fernandez, Bridget A. ; Duque, Frederico ; Delorme, Richard ; Dawson, Geraldine ; Chaste, Pauline ; Café, Cátia ; Brennan, Sean ; Bourgeron, Thomas ; Bolton, Patrick F. ; Bölte, Sven ; Bernier, Raphael ; Baird, Gillian ; Bailey, Anthony J. ; Anagnostou, Evdokia ; Almeida, Joana ; Wijsman, Ellen M. ; Vieland, Veronica J. ; Vicente, Astrid M. ; Schellenberg, Gerard D. ; Pericak-Vance, Margaret Ann ; Paterson, Andrew D. ; Parr, Jeremy R. ; Oliveira, Guiomar ; Nurnberger, John I. ; Monaco, Anthony P. ; Maestrini, Elena ; Klauck, Sabine M. ; Hakonarson, Hakon ; Haines, Jonathan L. ; Geschwind, Daniel H. ; Freitag, Christine M. ; Folstein, Susan E. ; Ennis, Sean ; Coon, Hilary ; Battaglia, Agatino ; Szatmari, Peter ; Sutcliffe, James S. ; Hallmayer, Joachim ; Gill, Michael ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Devlin, Bernie ; Gallagher, Louise ; Betancur, Catalina ; Scherer, Stephen W.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.