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4. Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

Author

Bergamasco, Maria I., Vanyai, Hannah K., Garnham, Alexandra L., Geoghegan, Niall D., Vogel, Adam P., Eccles, Samantha, Rogers, Kelly L., Smyth, Gordon K., Blewitt, Marnie E., Hannan, Anthony J., Thomas, Tim, and Voss, Anne K.

Subjects
Brain -- Genetic aspects -- Analysis -- Health aspects, Gene expression -- Genetic aspects -- Analysis -- Health aspects, Carnitine -- Analysis -- Genetic aspects -- Health aspects, Valproic acid -- Analysis -- Health aspects, Divalproex -- Analysis -- Health aspects, Mice -- Analysis -- Health aspects -- Genetic aspects, Cells -- Health aspects -- Analysis -- Genetic aspects, Health care industry
Abstract

Mutations in genes encoding chromatin modifiers are enriched among mutations causing intellectual disability. The continuing development of the brain postnatally, coupled with the inherent reversibility of chromatin modifications, may afford an opportunity for therapeutic intervention following a genetic diagnosis. Development of treatments requires an understanding of protein function and models of the disease. Here, we provide a mouse model of Say-Barber- Biesecker-Young-Simpson syndrome (SBBYSS) (OMIM 603736) and demonstrate proof-of-principle efficacy of postnatal treatment. SBBYSS results from heterozygous mutations in the KAT6B (MYST4/MORF/QFK) gene and is characterized by intellectual disability and autism-like behaviors. Using human cells carrying SBBYSS-specific KAT6B mutations and Kat6b heterozygous mice ([Kat6b.sup.-/-]), we showed that KAT6B deficiency caused a reduction in histone H3 lysine 9 acetylation. Kat6b mice displayed learning, memory, and social deficits, mirroring SBBYSS individuals. Treatment with a histone deacetylase inhibitor, valproic acid, or an acetyl donor, acetyL-carnitine (ALCAR), elevated histone acetylation levels in the human cells with SBBYSS mutations and in brain and blood cells of [Kat6b.sup.-/-] mice and partially reversed gene expression changes in [Kat6b.sup.-/-] cortical neurons. Both compounds improved sociability in Kat6b mice, and ALCAR treatment restored learning and memory. These data suggest that a subset of SBBYSS individuals may benefit from postnatal therapeutic interventions., Introduction Heterozygous mutations in the gene encoding the MYST family histone acetyltransferase, KAT6B, underlie 2 main intellectual disability disorders: the Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) (OMIM 603736) (1) and [...]

Published
2024
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5. Practice Pattern Variability in the Management of Regional Lymph Node Metastasis in Extremity and Trunk Soft Tissue Sarcoma: A Survey of the Society of Surgical Oncology and Musculoskeletal Tumor Society Membership

Author

Witt, Russell G., Voss, Rachel K., Chiang, Yi-Ju, Nguyen, Sa, Scally, Christopher P., Lin, Patrick P., Torres, Keila E., Moon, Bryan S., Satcher, Robert L., Hunt, Kelly K., Bird, Justin E., Feig, Barry W., Lewis, Valerae O., Roland, Christina L., and Keung, Emily Z.

Published
2023
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8. Apoptotic cell death in disease—Current understanding of the NCCD 2023

Author

Vitale, Ilio, Pietrocola, Federico, Guilbaud, Emma, Aaronson, Stuart A., Abrams, John M., Adam, Dieter, Agostini, Massimiliano, Agostinis, Patrizia, Alnemri, Emad S., Altucci, Lucia, Amelio, Ivano, Andrews, David W., Aqeilan, Rami I., Arama, Eli, Baehrecke, Eric H., Balachandran, Siddharth, Bano, Daniele, Barlev, Nickolai A., Bartek, Jiri, Bazan, Nicolas G., Becker, Christoph, Bernassola, Francesca, Bertrand, Mathieu J. M., Bianchi, Marco E., Blagosklonny, Mikhail V., Blander, J. Magarian, Blandino, Giovanni, Blomgren, Klas, Borner, Christoph, Bortner, Carl D., Bove, Pierluigi, Boya, Patricia, Brenner, Catherine, Broz, Petr, Brunner, Thomas, Damgaard, Rune Busk, Calin, George A., Campanella, Michelangelo, Candi, Eleonora, Carbone, Michele, Carmona-Gutierrez, Didac, Cecconi, Francesco, Chan, Francis K. -M., Chen, Guo-Qiang, Chen, Quan, Chen, Youhai H., Cheng, Emily H., Chipuk, Jerry E., Cidlowski, John A., Ciechanover, Aaron, Ciliberto, Gennaro, Conrad, Marcus, Cubillos-Ruiz, Juan R., Czabotar, Peter E., D’Angiolella, Vincenzo, Daugaard, Mads, Dawson, Ted M., Dawson, Valina L., De Maria, Ruggero, De Strooper, Bart, Debatin, Klaus-Michael, Deberardinis, Ralph J., Degterev, Alexei, Del Sal, Giannino, Deshmukh, Mohanish, Di Virgilio, Francesco, Diederich, Marc, Dixon, Scott J., Dynlacht, Brian D., El-Deiry, Wafik S., Elrod, John W., Engeland, Kurt, Fimia, Gian Maria, Galassi, Claudia, Ganini, Carlo, Garcia-Saez, Ana J., Garg, Abhishek D., Garrido, Carmen, Gavathiotis, Evripidis, Gerlic, Motti, Ghosh, Sourav, Green, Douglas R., Greene, Lloyd A., Gronemeyer, Hinrich, Häcker, Georg, Hajnóczky, György, Hardwick, J. Marie, Haupt, Ygal, He, Sudan, Heery, David M., Hengartner, Michael O., Hetz, Claudio, Hildeman, David A., Ichijo, Hidenori, Inoue, Satoshi, Jäättelä, Marja, Janic, Ana, Joseph, Bertrand, Jost, Philipp J., Kanneganti, Thirumala-Devi, Karin, Michael, Kashkar, Hamid, Kaufmann, Thomas, Kelly, Gemma L., Kepp, Oliver, Kimchi, Adi, Kitsis, Richard N., Klionsky, Daniel J., Kluck, Ruth, Krysko, Dmitri V., Kulms, Dagmar, Kumar, Sharad, Lavandero, Sergio, Lavrik, Inna N., Lemasters, John J., Liccardi, Gianmaria, Linkermann, Andreas, Lipton, Stuart A., Lockshin, Richard A., López-Otín, Carlos, Luedde, Tom, MacFarlane, Marion, Madeo, Frank, Malorni, Walter, Manic, Gwenola, Mantovani, Roberto, Marchi, Saverio, Marine, Jean-Christophe, Martin, Seamus J., Martinou, Jean-Claude, Mastroberardino, Pier G., Medema, Jan Paul, Mehlen, Patrick, Meier, Pascal, Melino, Gerry, Melino, Sonia, Miao, Edward A., Moll, Ute M., Muñoz-Pinedo, Cristina, Murphy, Daniel J., Niklison-Chirou, Maria Victoria, Novelli, Flavia, Núñez, Gabriel, Oberst, Andrew, Ofengeim, Dimitry, Opferman, Joseph T., Oren, Moshe, Pagano, Michele, Panaretakis, Theocharis, Pasparakis, Manolis, Penninger, Josef M., Pentimalli, Francesca, Pereira, David M., Pervaiz, Shazib, Peter, Marcus E., Pinton, Paolo, Porta, Giovanni, Prehn, Jochen H. M., Puthalakath, Hamsa, Rabinovich, Gabriel A., Rajalingam, Krishnaraj, Ravichandran, Kodi S., Rehm, Markus, Ricci, Jean-Ehrland, Rizzuto, Rosario, Robinson, Nirmal, Rodrigues, Cecilia M. P., Rotblat, Barak, Rothlin, Carla V., Rubinsztein, David C., Rudel, Thomas, Rufini, Alessandro, Ryan, Kevin M., Sarosiek, Kristopher A., Sawa, Akira, Sayan, Emre, Schroder, Kate, Scorrano, Luca, Sesti, Federico, Shao, Feng, Shi, Yufang, Sica, Giuseppe S., Silke, John, Simon, Hans-Uwe, Sistigu, Antonella, Stephanou, Anastasis, Stockwell, Brent R., Strapazzon, Flavie, Strasser, Andreas, Sun, Liming, Sun, Erwei, Sun, Qiang, Szabadkai, Gyorgy, Tait, Stephen W. G., Tang, Daolin, Tavernarakis, Nektarios, Troy, Carol M., Turk, Boris, Urbano, Nicoletta, Vandenabeele, Peter, Vanden Berghe, Tom, Vander Heiden, Matthew G., Vanderluit, Jacqueline L., Verkhratsky, Alexei, Villunger, Andreas, von Karstedt, Silvia, Voss, Anne K., Vousden, Karen H., Vucic, Domagoj, Vuri, Daniela, Wagner, Erwin F., Walczak, Henning, Wallach, David, Wang, Ruoning, Wang, Ying, Weber, Achim, Wood, Will, Yamazaki, Takahiro, Yang, Huang-Tian, Zakeri, Zahra, Zawacka-Pankau, Joanna E., Zhang, Lin, Zhang, Haibing, Zhivotovsky, Boris, Zhou, Wenzhao, Piacentini, Mauro, Kroemer, Guido, and Galluzzi, Lorenzo

Published
2023
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10. Discovery of a highly potent, selective, orally bioavailable inhibitor of KAT6A/B histone acetyltransferases with efficacy against KAT6A-high ER+ breast cancer

Author

Sharma, Shikhar, Chung, Chi-Yeh, Uryu, Sean, Petrovic, Jelena, Cao, Joan, Rickard, Amanda, Nady, Nataliya, Greasley, Samantha, Johnson, Eric, Brodsky, Oleg, Khan, Showkhin, Wang, Hui, Wang, Zhenxiong, Zhang, Yong, Tsaparikos, Konstantinos, Chen, Lei, Mazurek, Anthony, Lapek, John, Kung, Pei-Pei, Sutton, Scott, Richardson, Paul F., Greenwald, Eric C., Yamazaki, Shinji, Jones, Rhys, Maegley, Karen A., Bingham, Patrick, Lam, Hieu, Stupple, Alexandra E., Kamal, Aileen, Chueh, Anderly, Cuzzupe, Anthony, Morrow, Benjamin J., Ren, Bin, Carrasco-Pozo, Catalina, Tan, Chin Wee, Bhuva, Dharmesh D., Allan, Elizabeth, Surgenor, Elliot, Vaillant, François, Pehlivanoglu, Havva, Falk, Hendrik, Whittle, James R., Newman, Janet, Cursons, Joseph, Doherty, Judy P., White, Karen L., MacPherson, Laura, Devlin, Mark, Dennis, Matthew L., Hattarki, Meghan K., De Silva, Melanie, Camerino, Michelle A., Butler, Miriam S., Dolezal, Olan, Pilling, Patricia, Foitzik, Richard, Stupple, Paul A., Lagiakos, H. Rachel, Walker, Scott R., Hediyeh-Zadeh, Soroor, Nuttall, Stewart, Spall, Sukhdeep K., Charman, Susan A., Connor, Theresa, Peat, Thomas S., Avery, Vicky M., Bozikis, Ylva E., Yang, Yuqing, Zhang, Ming, Monahan, Brendon J., Voss, Anne K., Thomas, Tim, Street, Ian P., Dawson, Sarah-Jane, Dawson, Mark A., Lindeman, Geoffrey J., Davis, Melissa J., Visvader, Jane E., and Paul, Thomas A.

Published
2023
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14. ASO Visual Abstract: Practice Pattern Variability in the Management of Regional Lymph Node Metastasis in Extremity and Trunk Soft Tissue Sarcoma (ETSTS): A Survey of the Society of Surgical Oncology (SSO) and Musculoskeletal Tumor Society (MSTS) Membership

Author

Witt, Russell G., Voss, Rachel K., Chiang, Yi-Ju, Nguyen, Sa, Scally, Christopher P., Lin, Patrick P., Torres, Keila E., Moon, Bryan S., Satcher, Robert L., Hunt, Kelly K., Bird, Justin E., Feig, Barry W., Lewis, Valerae O., Roland, Christina L., and Keung, Emily Z.

Published
2023
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17. Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson–Forssman–Lehmann intellectual disability syndrome.

Author

McRae, Helen M., Leong, Melody P. Y., Bergamasco, Maria I., Garnham, Alexandra L., Hu, Yifang, Corbett, Mark A., Whitehead, Lachlan, El-Saafin, Farrah, Sheikh, Bilal N., Wilcox, Stephen, Hannan, Anthony J., Gécz, Jozef, Smyth, Gordon K., Thomas, Tim, and Voss, Anne K.

Subjects
TRANSCRIPTION factors, CEREBRAL ventricles, PLANT mutation, ATTENTION-deficit hyperactivity disorder, NERVOUS system
Abstract

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability and endocrine disorder caused by pathogenic variants of plant homeodomain finger gene 6 (PHF6). An understanding of the role of PHF6 in vivo in the development of the mammalian nervous system is required to advance our knowledge of how PHF6 mutations cause BFLS. Here, we show that PHF6 protein levels are greatly reduced in cells derived from a subset of patients with BFLS. We report the phenotypic, anatomical, cellular and molecular characterization of the brain in males and females in two mouse models of BFLS, namely loss of Phf6 in the germline and nervous system-specific deletion of Phf6. We show that loss of PHF6 resulted in spontaneous seizures occurring via a neural intrinsic mechanism. Histological and morphological analysis revealed a significant enlargement of the lateral ventricles in adult Phf6-deficient mice, while other brain structures and cortical lamination were normal. Phf6 deficient neural precursor cells showed a reduced capacity for self-renewal and increased differentiation into neurons. Phf6 deficient cortical neurons commenced spontaneous neuronal activity prematurely suggesting precocious neuronal maturation. We show that loss of PHF6 in the foetal cortex and isolated cortical neurons predominantly caused upregulation of genes, including Reln, Nr4a2, Slc12a5, Phip and ZIC family transcription factor genes, involved in neural development and function, providing insight into the molecular effects of loss of PHF6 in the developing brain. Author summary: The Börjeson-Forssman-Lehmann Syndrome (BFLS) is an intellectual disability and endocrine disorder. Mutations in the plant homeodomain finger 6 gene (PHF6) cause the disorder. We show here that a subset of BFLS patients lack PHF6 and report the effects of loss of PHF6 in an animal model with complete loss of PHF6 from conception. The cerebral cortex is the site of higher brain functions, including cognition and decision-making. We report here the effects of lack of PHF6 on the developing brain, cerebral cortex and neuronal cells isolated from this structure. Since PHF6 associates with the genetic material in the cell nucleus and has been proposed to regulate gene activity, we also report the effects of lack of PHF6 on gene expression in the cerebral cortex and purified neuronal cells. We observed that loss of PHF6 results in the dysregulation of neuronal development and differentiation genes, including genes involved in disorders such as Parkinson's disease, epilepsy, neuroblastoma, attention deficit disorder, autism and schizophrenia. Lastly, we report that mice lacking PHF6 mirror BFLS patients in that they also suffer from spontaneous epileptic seizures. Our mouse models and findings will be useful to further investigate BFLS neuronal function and other aspects of the disorder in the adult. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, and Noellke, Peter

Subjects
Gene mutations -- Analysis, Cell death -- Observations -- Health aspects, Hematopoiesis -- Analysis, Myelodysplastic syndromes -- Diagnosis -- Care and treatment -- Development and progression, Biological sciences, Health
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9L.sup.mut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9L.sup.mut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9L.sup.mut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9L.sup.mut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9L.sup.mut suppressed HEK293 cell growth, and mutations expressed in CD34.sup.+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9L.sup.mut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 [plus or minus] cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9L.sup.mut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9L.sup.mut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome., Author(s): Sushree S. Sahoo [sup.1] [sup.2] , Victor B. Pastor [sup.2] , Charnise Goodings [sup.1] , Rebecca K. Voss [sup.2] , Emilia J. Kozyra [sup.2] [sup.3] , Amina Szvetnik [sup.2] [...]

Published
2021
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24. Non‐Islet Cell Tumor Hypoglycemia Secondary to a 20 cm Intra‐Abdominal Leiomyoma in a Male Patient: A Case Report and Literature Review.

Author

Lippincott, Michelle D., McDonald, James D., Bui, Marilyn M., Gonzalez, Ricardo J., Voss, Rachel K., and De Nardi, Paola

Subjects
LITERATURE reviews, CELL tumors, UTERINE fibroids, ENGLISH literature, HYPOGLYCEMIA
Abstract

Non‐islet cell tumor hypoglycemia (NICTH) is a rare clinical entity associated with large mesenchymal tumors. Its pathogenesis is most commonly mediated by tumor overproduction of "big" insulin‐like growth factor‐2. Here, we present a 54‐year‐old male who presented with noninsulin‐mediated hypoglycemia and a 20 cm intra‐abdominal leiomyoma. His hypoglycemic episodes resolved after the resection of his tumor. To our knowledge, this is the only documented case in the English literature of NICTH associated with leiomyoma in a male patient. NICTH due to a benign leiomyoma should be in the differential diagnosis for any patient with hypoglycemia and an abdominal mass. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, and Wlodarski, Marcin W.

Published
2020
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31. HBO1 is required for the maintenance of leukaemia stem cells

Author

MacPherson, Laura, Anokye, Juliana, Yeung, Miriam M., Lam, Enid Y. N., Chan, Yih-Chih, Weng, Chen-Fang, Yeh, Paul, Knezevic, Kathy, Butler, Miriam S., Hoegl, Annabelle, Chan, Kah-Lok, Burr, Marian L., Gearing, Linden J., Willson, Tracy, Liu, Joy, Choi, Jarny, Yang, Yuqing, Bilardi, Rebecca A., Falk, Hendrik, Nguyen, Nghi, Stupple, Paul A., Peat, Thomas S., Zhang, Ming, de Silva, Melanie, Carrasco-Pozo, Catalina, Avery, Vicky M., Khoo, Poh Sim, Dolezal, Olan, Dennis, Matthew L., Nuttall, Stewart, Surjadi, Regina, Newman, Janet, Ren, Bin, Leaver, David J., Sun, Yuxin, Baell, Jonathan B., Dovey, Oliver, Vassiliou, George S., Grebien, Florian, Dawson, Sarah-Jane, Street, Ian P., Monahan, Brendon J., Burns, Christopher J., Choudhary, Chunaram, Blewitt, Marnie E., Voss, Anne K., Thomas, Tim, and Dawson, Mark A.

Published
2020
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32. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Author

Lalaoui, Najoua, Boyden, Steven E., Oda, Hirotsugu, Wood, Geryl M., Stone, Deborah L., Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E., Zaal, Kristien J. M., Hoffmann, Patrycja M., Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D., Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B., Gutierrez-Cruz, Gustavo, Ombrello, Amanda K., Pinto-Patarroyo, Gineth P., Kueh, Andrew J., Herold, Marco J., Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I., McKenzie, Mark, Light, Amanda, Barham, Beverly K., Jones, Anne, Romeo, Tina M., Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C., Gross, Andrew J., Shum, Anthony K., Hawkins, Edwin D., Masters, Seth L., Lenardo, Michael J., Boehm, Manfred, Rosenzweig, Sergio D., Pasparakis, Manolis, Voss, Anne K., Gadina, Massimo, Kastner, Daniel L., and Silke, John

Published
2020
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35. PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia

Author

McRae, Helen M., Garnham, Alexandra L., Hu, Yifang, Witkowski, Matthew T., Corbett, Mark A., Dixon, Mathew P., May, Rose E., Sheikh, Bilal N., Chiang, William, Kueh, Andrew J., Nguyen, Tan A., Man, Kevin, Gloury, Renee, Aubrey, Brandon J., Policheni, Antonia, Di Rago, Ladina, Alexander, Warren S., Gray, Daniel H.D., Strasser, Andreas, Hawkins, Edwin D., Wilcox, Stephen, Gécz, Jozef, Kallies, Axel, McCormack, Matthew P., Smyth, Gordon K., Voss, Anne K., and Thomas, Tim

Published
2019
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36. ING4 and ING5 are essential for histone H3 lysine 14 acetylation and epicardial cell lineage development.

Author

Mah, Sophia Y. Y., Vanyai, Hannah K., Li-Wai-Suen, Connie S. N., Garnham, Alexandra L., Wynn, Jessica, Bergamasco, Maria I., Malelang, Shezlie, Wilcox, Stephen, Biben, Christine, Smyth, Gordon K., Thomas, Tim, and Voss, Anne K.

Subjects
VENTRICULAR septal defects, ACETYLATION, LYSINE, HISTONE acetyltransferase, EMBRYOLOGY
Abstract

Inhibitor of growth 4 and 5 (ING4, ING5) are structurally similar chromatin-binding proteins in the KAT6A, KAT6B and KAT7 histone acetyltransferase protein complexes. Heterozygous mutations in the KAT6A or KAT6B gene cause human disorders with cardiac defects, but the contribution of their chromatin-adaptor proteins to development is unknown. We found that Ing5−/− mice had isolated cardiac ventricular septal defects. Ing4−/−Ing5−/− embryos failed to undergo chorioallantoic fusion and arrested in development at embryonic day 8.5, displaying loss of histone H3 lysine 14 acetylation, reduction in H3 lysine 23 acetylation levels and reduced developmental gene expression. Embryonic day 12.5 Ing4+/−Ing5−/− hearts showed a paucity of epicardial cells and epicardium-derived cells, failure of myocardium compaction, and coronary vasculature defects, accompanied by reduced expression of epicardium genes. Cell adhesion gene expression and proepicardium outgrowth were defective in the ING4- and ING5-deficient state. Our findings suggest that ING4 and ING5 are essential for heart development and promote epicardium and epicardium-derived cell fates and imply mutation of the human ING5 gene as a possible cause of isolated ventricular septal defects. [ABSTRACT FROM AUTHOR]

Published
2024
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39. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., and Wlodarski, Marcin W.

Published
2021
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41. Development of Hydrocephalus in Mice Lacking SOCS7

Author

Krebs, Danielle L., Metcalf, Donald, Merson, Tobias D., Voss, Anne K., Thomas, Tim, Zhang, Jian-Guo, Rakar, Steven, O'Bryan, Moira K., Wilson, Tracy A., Viney, Elizabeth M., Mielke, Lisa A., Nicola, Nicos A., Hilton, Douglas J., and Alexander, Warren S.

Published
2004

44. Inhibitors of histone acetyltransferases KAT6A/B induce senescence and arrest tumour growth

Author

Baell, Jonathan B., Leaver, David J., Hermans, Stefan J., Kelly, Gemma L., Brennan, Margs S., Downer, Natalie L., Nguyen, Nghi, Wichmann, Johannes, McRae, Helen M., Yang, Yuqing, Cleary, Ben, Lagiakos, H. Rachel, Mieruszynski, Stephen, Pacini, Guido, Vanyai, Hannah K., Bergamasco, Maria I., May, Rose E., Davey, Bethany K., Morgan, Kimberly J., Sealey, Andrew J., Wang, Beinan, Zamudio, Natasha, Wilcox, Stephen, Garnham, Alexandra L., Sheikh, Bilal N., Aubrey, Brandon J., Doggett, Karen, Chung, Matthew C., de Silva, Melanie, Bentley, John, Pilling, Pat, Hattarki, Meghan, Dolezal, Olan, Dennis, Matthew L., Falk, Hendrik, Ren, Bin, Charman, Susan A., White, Karen L., Rautela, Jai, Newbold, Andrea, Hawkins, Edwin D., Johnstone, Ricky W., Huntington, Nicholas D., Peat, Thomas S., Heath, Joan K., Strasser, Andreas, Parker, Michael W., Smyth, Gordon K., Street, Ian P., Monahan, Brendon J., Voss, Anne K., and Thomas, Tim

Published
2018
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46. Histone H3K23-specific acetylation by MORF is coupled to H3K14 acylation

Author

Klein, Brianna J., Jang, Suk Min, Lachance, Catherine, Mi, Wenyi, Lyu, Jie, Sakuraba, Shun, Krajewski, Krzysztof, Wang, Wesley W., Sidoli, Simone, Liu, Jiuyang, Zhang, Yi, Wang, Xiaolu, Warfield, Becka M., Kueh, Andrew J., Voss, Anne K., Thomas, Tim, Garcia, Benjamin A., Liu, Wenshe R., Strahl, Brian D., Kono, Hidetoshi, Li, Wei, Shi, Xiaobing, Côté, Jacques, and Kutateladze, Tatiana G.

Published
2019
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