Article
Multidisciplinary Sciences
Francisco Bustos, Carmen Espejo-Serrano, Anna Segarra-Fas, Rachel Toth, Alison J. Eaton, Kristin D. Kernohan, Meredith J. Wilson, Lisa G. Riley, Greg M. Findlay
Summary: TOKAS is an X-linked intellectual disability syndrome caused by variants in the gene encoding RLIM. A novel missense variant in RLIM disrupts protein expression and function, leading to a severe form of the syndrome. This variant impairs E3 ubiquitin ligase activity and disrupts X-chromosome inactivation.
SCIENTIFIC REPORTS
(2021)
Article
Oncology
Sayaka Kawashima, Atsushi Hattori, Erina Suzuki, Keiko Matsubara, Machiko Toki, Rika Kosaki, Yukihiro Hasegawa, Kazuhiko Nakabayashi, Maki Fukami, Masayo Kagami
Summary: Research indicates that X-chromosome rearrangements generally do not impact the methylation status of escape gene promoters, except in cases of highly complex rearrangements involving the deletion of the FIRRE gene and the duplication of the DXZ4 gene.
CLINICAL EPIGENETICS
(2021)
Article
Multidisciplinary Sciences
Serena F. Generoso, Maria Victoria Neguembor, Elliot A. Hershberg, Ruslan I. Sadreyev, Kazuki Kurimoto, Yukihiro Yabuta, Raffaele Ricci, Pauline Audergon, Moritz Bauer, Mitinori Saitou, Konrad Hochedlinger, Brian J. Beliveau, Maria Pia Cosma, Jeannie T. Lee, Bernhard Payer
Summary: Reactivation of the inactive X chromosome is a key event during reprogramming, and the cohesin complex member SMC1a plays a crucial role in this process. Depletion of SMC1a affects X chromosome reactivation without interfering with iPSC-reprogramming, and it is necessary for the decompacted state of the active X chromosome. Our findings highlight the importance of cohesin in the remodeling of the X chromosome and its critical role in iPSC-reprogramming.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Review
Cell Biology
Wenlun Wang, Lu Min, Xinyuan Qiu, Xiaomin Wu, Chuanyang Liu, Jiaxin Ma, Dongyi Zhang, Lingyun Zhu
Summary: Long non-coding RNAs (lncRNAs) play important roles in cellular functions by regulating target gene expression levels through epigenomic, transcriptional, and post-transcriptional approaches. Among them, long non-coding RNA X-inactive specific transcript (lncRNA Xist) acts as a crucial regulator in X chromosome inactivation and various disease processes.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biology
Andrea Cerase, Alexander N. Young, Nerea Blanes Ruiz, Andreas Buness, Gabrielle M. Sant, Mirjam Arnold, Monica Di Giacomo, Michela Ascolani, Manish Kumar, Andreas Hierholzer, Giuseppe Trigiante, Sarah J. Marzi, Philip Avner
Summary: Chd8 is a key regulator of mammalian Xist expression, activating it in embryonic stem cells and preventing spurious Xist expression in differentiating cells. Xist plays a crucial role in X chromosome inactivation by recruiting repressive histone and DNA modifiers, with its regulation tightly coupled to differentiation. Chromatin remodelers like Chd8 have a new role in Xist regulation and contribute to developmentally-regulated gene expression.
COMMUNICATIONS BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Emanuela Viggiano, Luisa Politano
Summary: Anderson-Fabry disease is an X-linked genetic disorder with higher incidence in affected males, but also poses risks for female carriers. The clinical symptoms of the disease are diverse, and studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biology
Aline Muyle, Doris Bachtrog, Gabriel A. B. Marais, James M. A. Turner
Summary: This article discusses how epigenetics influence sex chromosome evolution in animals and plants, focusing on the degeneration of Y chromosome and the inactivation of X chromosome in populations. It also explores the similarities and possible differences between the two processes.
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2021)
Article
Developmental Biology
Saya Ichihara, Koji Nagao, Takehisa Sakaguchi, Chikashi Obuse, Takashi Sado
Summary: Stable silencing of the inactive X chromosome (Xi) in female mammals is crucial for the development of embryos and their postnatal health. SmcHD1 plays an important role in this process by facilitating the formation of H3K9me3-enriched blocks on the Xi, which in combination with H3K27me3, leads to robust heterochromatin formation. Deficiency of SmcHD1 results in the loss of H3K9me3, causing aberrant distribution of H3K27me3 on the Xi and derepression of X-inactivated genes.
Article
Multidisciplinary Sciences
Darcy T. Ahern, Prakhar Bansal, Maria K. Armillei, Isaac V. Faustino, Yuvabharath Kondaveeti, Heather R. Glatt-Deeley, Erin C. Banda, Stefan F. Pinter
Summary: This study investigates the impact of monosomy X on syncytiotrophoblast development in humans using X-monosomic human induced pluripotent stem cells (hiPSCs). The results suggest that monosomy X may alter the levels of placental genes and secretion of placental growth factor (PlGF) and human chorionic gonadotropin (hCG). The findings also demonstrate that the corresponding gene coexpression network modules are preserved in chorionic villi and term placenta.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Multidisciplinary Sciences
Anna Lappala, Chen-Yu Wang, Andrea Kriz, Hunter Michalk, Kevin Tan, Jeannie T. Lee, Karissa Y. Sanbonmatsu
Summary: This study developed tools to directly extract 3D information from Hi-C experiments, revealing the time evolution of chromosome architecture during large-scale changes in gene expression. The X chromosome transitions through different structures during X chromosome inactivation, showing slow mixing dynamics in the inner core and faster dynamics near the surface. Xist RNA molecules play a role in establishing the inactive X chromosome structure.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Elin Enervald, Lynn Marie Powell, Lora Boteva, Rossana Foti, Nerea Blanes Ruiz, Gozde Kibar, Agnieszka Piszczek, Fatima Cavaleri, Martin Vingron, Andrea Cerase, Sara B. C. Buonomo
Summary: In the process of X chromosome choice in mice, RIF1 and KAP1 play fundamental roles, with the mutual exclusion between Tsix and RIF1, as well as between RIF1 and KAP1, establishing a self-sustaining loop that transforms the initial stochastic event into a stably inherited asymmetric X-chromosome state.
Article
Cell & Tissue Engineering
Rowan M. Karvas, Shafqat A. Khan, Sonam Verma, Yan Yin, Devesha Kulkarni, Chen Dong, Kyoung-mi Park, Brian Chew, Eshan Shane, Laura A. Fischer, Deepak Kumar, Liang Ma, Adrianus C. M. Boon, Sabine Dietmann, Indira U. Mysorekar, Thorold W. Theunissen
Summary: This study reports the formation of 3D trophoblast organoids derived from naive human pluripotent stem cells. These organoids exhibit a villous architecture similar to primary trophoblast organoids and display distinct trophoblast cell types. Importantly, they also show selective vulnerability to emerging pathogens such as SARS-CoV-2 and Zika virus. This research provides an accessible model system for studying placental development and its susceptibility to emerging pathogens.
Article
Genetics & Heredity
Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong
Summary: In females with DDX3X-related intellectual disability, extreme skewing of XCI in the mutant allele was found, which was insufficient to reverse the phenotype of neurodevelopmental disorders related to DDX3X defects.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Ling Xu, Hongzhi Geng, Xiaoqing Lv, Guangyu Wang, Chuanzhu Yan, Dong Zhang, Pengfei Lin
Summary: This study describes a female carrier of spinal and bulbar muscular atrophy (SBMA) who was diagnosed with DNAJB6-related distal myopathy. Through clinical manifestations, electrophysiological study, and muscle pathology, the patient was ultimately diagnosed with DNAJB6-related distal myopathy. Functional study in a zebrafish model revealed that the mutation contributed to muscle structure defects.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Cell Biology
Ikrame Naciri, Benjamin Lin, Chiu-Ho Webb, Shan Jiang, Sarah Carmona, Wenzhu Liu, Ali Mortazavi, Sha Sun
Summary: By integrating Xist transgene into an autosome, this study found that Xist Tg can induce transcriptional silencing of certain genes on the autosomal segments, and these transcriptionally repressed chromosomal segments are closely associated with the location of Xist Tg inside the nucleus. This suggests that Xist directs and maintains long-range transcriptional silencing facilitated by the three-dimensional chromosome organization.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Correction
Clinical Neurology
Tsz Hang Wong, Wang Zheng Chiu, Guido J. Breedveld, Ka Wan Li, Annemieke J. M. H. Verkerk, David Hondius, Renate K. Hukema, Harro Seelaar, Petra Frick, Lies-Anne Severijnen, Gert-Jan Lammers, Joyce H. G. Lebbink, Sjoerd G. Van Duinen, Wouter Kamphorst, Annemieke J. Rozemuller, Netherlands Brain Bank, E. Bert Bakker, Manuela Neumann, Rob Willemsen, Vincenzo Bonifati, August B. Smit, John van Swieten
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Biochemistry & Molecular Biology
Gert Matthijs, Erika Souche, Marielle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valerie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Biochemistry & Molecular Biology
Suha M. Hassan, Cornelis L. Harteveld, Engbert Bakker, Piero C. Giordano
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Biochemistry & Molecular Biology
Suha M. Hassan, Cornelis L. Harteveld, Egbert Bakker, Piero C. Giordano
Article
Genetics & Heredity
Richard J. L. F. Lemmers, Marlinde L. van den Boogaard, Patrick J. van der Vliet, Colleen M. Donlin-Smith, Sharon P. Nations, Claudia A. L. Ruivenkamp, Patricia Heard, Bert Bakker, Stephen Tapscott, Jannine D. Cody, Rabi Tawil, Silvere M. van der Maarel
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Pathology
Jessica M. E. van den Oever, Ivonne J. H. M. van Minderhout, Cornelis L. Harteveld, Nicolette S. den Hollander, Egbert Bakker, Nienke van der Stoep, Elles M. J. Boon
JOURNAL OF MOLECULAR DIAGNOSTICS
(2015)
Article
Genetics & Heredity
Jessica M. E. van den Oever, Emilia K. Bijlsma, Ilse Feenstra, Nienke Muntjewerff, Inge B. Mathijssen, Egbert Bakker, Martine J. van Belzen, Elles M. J. Boon
PRENATAL DIAGNOSIS
(2015)
Correction
Biochemistry & Molecular Biology
Gert Matthijs, Erika Souche, Marielle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valerie Race, Erik Sistermans, Marc Sturm, Marjan Weiss, Helger Yntema, Egbert Bakker, Hans Scheffer, Peter Bauer
EUROPEAN JOURNAL OF HUMAN GENETICS
(2016)
Article
Endocrinology & Metabolism
Sabine E. Hannema, Jan M. Wit, Mieke E. C. A. M. Houdijk, Arie van Haeringen, Elsa C. Bik, Annemieke J. M. H. Verkerk, Andre G. Uitterlinden, Sarina G. Kant, Wilma Oostdijk, Egbert Bakker, Henriette A. Delemarre-van de Waal, Monique Losekoot
HORMONE RESEARCH IN PAEDIATRICS
(2016)
Meeting Abstract
Clinical Neurology
R. Goossens, J. Balog, J. Lemmers, M. van den Boogaard, P. van der Vliet, C. Donlin-Smith, S. Nations, M. Kriek, C. Ruivenkamp, P. Heard, B. Bakker, S. Tapscott, J. Cody, R. Tawil, S. van der Maarel
NEUROMUSCULAR DISORDERS
(2016)
Article
Biochemistry & Molecular Biology
Thomas Liehr, Isabel M. Carreira, Dilek Aktas, Egbert Bakker, Marta Rodriguez de Alba, Domenico A. Coviello, Lina Florentin, Hans Scheffer, Martina Rincic
EUROPEAN JOURNAL OF HUMAN GENETICS
(2017)
Article
Pharmacology & Pharmacy
Katherine Payne, Martin Eden, Niall Davison, Egbert Bakker
PERSONALIZED MEDICINE
(2017)
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Rheumatology
T. H. C. M. Reinards, H. M. Albers, D. M. C. Brinkman, S. S. M. Kamphuis, M. A. J. van Rossum, H. J. Girschick, C. Wouters, E. P. A. H. Hoppenreijs, R. K. Saurenmann, A. Hinks, J. A. Ellis, E. Bakker, W. Verduijn, P. Slagboom, T. W. J. Huizinga, R. E. M. Toes, J. J. Houwing-Duistermaat, R. ten Cate, M. W. Schilham
ANNALS OF THE RHEUMATIC DISEASES
(2015)
Article
Biochemistry & Molecular Biology
Suha M. Hassan, Cornelis L. Harteveld, Egbert Bakker, Piero C. Giordano
Article
Biochemistry & Molecular Biology
Richard J. L. F. Lemmers, Jelle J. Goeman, Patrick J. van der Vliet, Merlijn P. van Nieuwenhuizen, Judit Balog, Marianne Vos-Versteeg, Pilar Camano, Maria Antonia Ramos Arroyo, Ivonne Jerico, Mark T. Rogers, Daniel G. Miller, Meena Upadhyaya, Jan J. G. M. Verschuuren, Adolfo Lopez de Munain Arregui, Baziel G. M. van Engelen, George W. Padberg, Sabrina Sacconi, Rabi Tawil, Stephen J. Tapscott, Bert Bakker, Silvere M. van der Maarel
HUMAN MOLECULAR GENETICS
(2015)