Review
Biochemistry & Molecular Biology
Ali Youness, Charles-Henry Miquel, Jean-Charles Guery
Summary: Women are more susceptible to autoimmune diseases, not only due to sex hormones, but also because of X-linked genetic factors. X chromosome inactivation in female mammals results in cellular mosaicism and escape of some X-linked genes from inactivation, impacting the functional plasticity of female immune cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
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
Multidisciplinary Sciences
Leah F. Rosin, Dahong Chen, Yang Chen, Elissa P. Lei
Summary: Research on the chromatin structure in the silkmoth, Bombyx mori, reveals that the two male sex chromosomes are equally downregulated after dosage compensation (DC) is established. In females, the Z chromosome chromatin becomes more accessible and repositions towards the nuclear center during the early stages of DC. This study also uncovers intriguing similarities between DC mechanisms in B. mori and C. elegans, despite having evolutionarily distinct sex chromosomes, suggesting a possible role for holocentricity in DC mechanisms.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
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
Respiratory System
Lystra P. Hayden, Brian D. Hobbs, Robert Busch, Michael H. Cho, Ming Liu, Camila M. Lopes-Ramos, David A. Lomas, Per Bakke, Amund Gulsvik, Edwin K. Silverman, James D. Crapo, Terri H. Beaty, Nan M. Laird, Christoph Lange, Dawn L. DeMeo
Summary: This study explores the association between genetic variants on the X chromosome and the risk of COPD, as well as the sex differences in COPD manifestations. It identifies loci influencing lung function, COPD, and emphysema and demonstrates the importance of sex differences in complex lung diseases. Comprehensive interrogation of the X chromosome is important in understanding the genetic control of COPD and lung function.
RESPIRATORY RESEARCH
(2023)
Article
Genetics & Heredity
Bradley P. Balaton, Carolyn J. Brown
Summary: X-chromosome inactivation is a common epigenetic phenomenon in XX eutherian mammals, where some genes can escape inactivation and remain expressed. Research shows that heterochromatic marks are less enriched and euchromatic marks are more depleted on the active X chromosome in genes that have undergone inactivation.
EPIGENETICS & CHROMATIN
(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
Genetics & Heredity
Xiuhua L. Bozarth, Jonathan Lopez, He Fang, Jacqueline Lee-Eng, Zhijun Duan, Xinxian Deng
Summary: The X-linked SMC1A gene is important for genome organization and gene regulation. Pathogenic variants in SMC1A can cause Cornelia de Lange syndrome (CdLS) or developmental and epileptic encephalopathy (DEE). Different variants in SMC1A may lead to different phenotypes.
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)
Article
Genetics & Heredity
Bradley P. Balaton, Oriol Fornes, Wyeth W. Wasserman, Carolyn J. Brown
Summary: The study used DNA methylation to predict XCI status in 12 different species and found that most species have 80-90% of genes subject to XCI. Sixteen genes were identified with discordant X-chromosome inactivation statuses across multiple species, with five showing primate-specific escape from XCI.
EPIGENETICS & CHROMATIN
(2021)
Article
Agriculture, Dairy & Animal Science
Jingfeng Peng, Yunfei Hou, Shici Wu, Zicong Li, Zhenfang Wu
Summary: The maternal Rlim allele is necessary for normal development of female mouse embryos. Inactivating the maternal Rlim allele in female embryos led to a higher proportion of male offspring but reduced litter size, which couldn't be compensated by superovulation. This study provides a potential approach for sex selection in livestock and prevention of sex-associated hereditary diseases in humans.
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)
Article
Biochemistry & Molecular Biology
Rima Dardik, Einat Avishai, Shadan Lalezari, Assaf A. Barg, Sarina Levy-Mendelovich, Ivan Budnik, Ortal Barel, Yulia Khavkin, Gili Kenet, Tami Livnat
Summary: The study found that HA carriers with normal karyotypes but presenting with moderate to severe HA phenotype due to skewed XCI carried pathogenic mutations on their non-hemophilic X chromosomes, indicating that negative selection against cells with an additional deleterious mutation on the silenced X chromosome may complicate the phenotype of monogenic X-linked diseases.
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)