Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Autor: Thomas Besnard, Kristian Tveten, Hilary F Kitson, Jennifer A. Lee, Brieana Fregeau, Rachel Schot, Khadija Wilson, Katrin Õunap, Juliane Winkelmann, Anna Lehman, Nicola Longo, Servi J. C. Stevens, Megan T. Cho, Christina G.S. Palmer, Causes Study, Giovanni Battista Ferrero, Joy Dean, Lone W. Laulund, Grazia M.S. Mancini, Matias Wagner, Martin G. Martin, Sabine Lüttgen, Elizabeth J. Bhoj, Amanda J. Yoon, Thomas Klopstock, Janet S. Sinsheimer, Eric Vilain, Sébastien Küry, Francesca Clementina Radio, Jiddeke M. van de Kamp, Cameron Mrokse, Hakon Hakonarson, Samuel G. Cox, Jeanette C. Papp, Margot I. Van Allen, Raymond J. Louie, Constance T. R. M. Stumpel, Evan F. Joiner, Juanita Neira, Arve Vøllo, Amy Pizzino, Kelly Radtke, Celeste Simon, Michelle L. Thompson, Allison Zheng, Omar Sherbini, Marcia C. Willing, Tim M. Strom, Benjamin Garcia, Sara S. Cathey, Theresa A. Grebe, Dong Li, Marjan M. Weiss, Marco Tartaglia, Laura M Bryant, Sandra Mercier, Katherine L. Helbig, Martin Jakob Larsen, Ddd Study, Alexandrea Wadley, Alexander P.A. Stegmann, Sabina Barresi, A. Micheil Innes, Elaine H. Zackai, Gregory Costain, Davor Lessel, Molly Snyder, Heather P. Crawford, Richard Redon, Pearl Lee, Melissa Byler, Holly Dubbs, J. Gage Crump, K. E. Stuurman, Boris Keren, Stéphane Bézieau, Stan F. Nelson, Kristin G. Monaghan, Michael J. Lyons, Jeffrey W. Innis, Anna C.E. Hurst, Elizabeth A. Sellars, Samantha A. Schrier Vergano, Saadet Mercimek-Andrews, Monica H. Wojcik, Alison Ross, Heiko Reutter, Zuo-Fei Yuan, Dylan M. Marchione, Renee Bend, Diana Carli, Zöe Powis, Neil H. Parker, Jennifer Muncy Thomas, Luis A. Umaña, Adeline Vanderver, Julia Hoefele, Linda Manwaring, Christina Fagerberg, Elly Brokamp, M. Stephen Meyn, Pilvi Ilves, Xavier de la Cruz, Nina Powell-Hamilton, Caroline Nava, Garrett Gotway, Karit Reinson, Kristin D. Kernohan, Jennifer Norman, Alexandra Afenjar, Benjamin Cogné, Delphine Héron, Roman Günthner, Alfredo Brusco, John Dean, Kevin A. Janssen, Robert Roger Lebel, Divya Nair, Jijun Wan, Julian A. Martinez-Agosto, Elliott H. Sherr, Kyle Retterer, Claudia B. Catarino, Michael E. March, Natalia Padilla, Elise Brimble, Sylvie Odent, Jane L. Schuette, David Chitayat, Klaas J. Wierenga, Kirsty McWalter, Trine Prescott, Jonas Denecke, Wendy K. Chung

Publikováno v: Science Advances, 6(49):eabc9207. American Association for the Advancement of Science
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, ' Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances, 6(49):9207. American Association for the Advancement of Science
Science advances, 6(49):eabc9207. American Association for the Advancement of Science
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 2020, ' Histone H3.3 beyond cancer : Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients ', Science Advances, vol. 6, no. 49, eabc9207 . https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
Sci. Adv. 6:106267 (2020)

Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2c29be398973d47026c90ba29e60cd
https://doi.org/10.1126/sciadv.abc9207

H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis

Autor: Gael Cagnone, Siddhant U. Jain, Warren A. Cheung, Jacek Majewski, Simon Papillon-Cavanagh, Shriya Deshmukh, Hamid Nikbakht, Jad I. Belle, Haifen Chen, Damien Faury, Benjamin Ellezam, Peter W. Lewis, Carol C.L. Chen, Nicolas De Jay, Abdulshakour Mohammadnia, Bo Hu, Melissa K. McConechy, Brian Krug, Dylan M. Marchione, Claudia L. Kleinman, Michele Zeinieh, Chao Lu, Ashot S. Harutyunyan, Tomi Pastinen, Leonie G. Mikael, Benjamin A. Garcia, Manav Pathania, Alexander G. Weil, Nada Jabado, Rui Li, Alexandre Montpetit, Denise Bechet, Paolo Salomoni

Publikováno v: Nature Communications
Nature Communications 10(1), 1262 (2019). doi:10.1038/s41467-019-09140-x
Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)

Lys-27-Met mutations in histone 3 genes (H3K27M) characterize a subgroup of deadly gliomas and decrease genome-wide H3K27 trimethylation. Here we use primary H3K27M tumor lines and isogenic CRISPR-edited controls to assess H3K27M effects in vitro and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8009a4766e296bb95581ac15a67e41
https://pubmed.ncbi.nlm.nih.gov/30890717

Activation of the DNA damage response in vivo in synucleinopathy models of Parkinson's disease

Autor: Jan H.J. Hoeijmakers, Pier G. Mastroberardino, Ayse Ulusoy, Sylvia Gabriels, Simona V. Gornati, Fabio Blandini, Silvia Cerri, Donato A. Di Monte, Chiara Milanese, Audrey Plat

Publikováno v: Cell death & disease, 9:818. Nature Publishing Group
Cell Death & Disease
Cell Death and Disease, Vol 9, Iss 8, Pp 1-12 (2018)
Cell death & disease 9(8), 818 (2018). doi:10.1038/s41419-018-0848-7

The involvement of DNA damage and repair in aging processes is well established. Aging is an unequivocal risk factor for chronic neurodegenerative diseases, underscoring the relevance of investigations into the role that DNA alterations may have in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::787235d3b871f3b07b61760e2c89d654
https://doi.org/10.1038/s41419-018-0848-7

Genome-wide chromatin and gene expression profiling during memory formation and maintenance in adult mice

Autor: Rashi Halder, Ramon O. Vidal, Orr Shomroni, Tonatiuh Pena Centeno, Stefan Bonn, Magali Hennion, Raza-Ur Rahman

Publikováno v: Scientific Data. London, United Kingdom: Nature Publishing Group (2016).
Scientific Data
Scientific data 3(1), 160090 (2016). doi:10.1038/sdata.2016.90

Recent evidence suggests that the formation and maintenance of memory requires epigenetic changes. In an effort to understand the spatio-temporal extent of learning and memory-related epigenetic changes we have charted genome-wide histone and DNA met

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b92491e6bbb02ff0530a6dcb43df7906
http://orbilu.uni.lu/handle/10993/36937

Tissue-specific histone modification and transcription factor binding in α globin gene expression

Autor: William G. Wood, Douglas R. Higgs, Jacqueline A. Sloane-Stanley, Eduardo Anguita, Marco De Gobbi, Jacqueline A. Sharpe, Richard J. Gibbons, Ian Dunham, Christoph M. Koch, Jim R. Hughes

Publikováno v: Blood. 110:4503-4510

To address the mechanism by which the human globin genes are activated during erythropoiesis, we have used a tiled microarray to analyze the pattern of transcription factor binding and associated histone modifications across the telomeric region of h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26ab6418b4760c61bc6822cf94f4934
https://doi.org/10.1182/blood-2007-06-097964