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
Obstetrics & Gynecology
Shimin Yuan, Dehua Cheng, Keli Luo, Xiurong Li, Liang Hu, Hao Hu, Xianhong Wu, Pingyuan Xie, Changfu Lu, Guangxiu Lu, Ge Lin, Fei Gong, Yue-Qiu Tan
Summary: This study investigated the genetic cause of multiple congenital disabilities in a girl with a maternal balanced t(X-A), and confirmed the effectiveness of distinguishing non-carrier and carrier embryos through PGT. Successful childbirth of healthy children was achieved after several embryo transfers.
REPRODUCTIVE BIOMEDICINE ONLINE
(2021)
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
Reproductive Biology
Yanhong Yang, Xueying Zhang, Yuting Lei, Gang Chang, Yan Zou, Siping Yu, Huijuan Wu, Hedong Rong, Zili Lei, Changlong Xu
Summary: The study on H22 tumor-bearing mice model revealed that tumor affects the quantity and quality of oocytes and leads to abnormal embryonic development. 45 differentially expressed genes associated with oocyte quality were identified, and protein interaction analysis indicated potential interactions among these genes.
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
Cell & Tissue Engineering
Atsushi Fukuda, Dane Z. Hazelbaker, Nami Motosugi, Jin Hao, Francesco Limone, Amanda Beccard, Patrizia Mazzucato, Angelica Messana, Chisa Okada, Irune Guerra San Juan, Menglu Qian, Akihiro Umezawa, Hidenori Akutsu, Lindy E. Barrett, Kevin Eggan
Summary: The study found that de novo DNA methyltransferases DNMT3A/3B are crucial for repressing XIST in female hPSCs, and the maintenance of XIST silencing is independent of de novo DNA methylation.
Article
Agriculture, Dairy & Animal Science
Jie Su, Yue Zhang, Hong Su, Caiyun Wang, Daqing Wang, Yanyan Yang, Xiunan Li, Wangmei Qi, Haijun Li, Xihe Li, Yongli Song, Guifang Cao
Summary: Male and female mammals have different sex chromosomes, with females carrying XX chromosomes and males carrying XY chromosomes. In sheep testes, there is no dosage compensation mechanism observed, and MSL1 and MSL2 are expressed in early germ cells and involved in regulating mammalian X-chromosome inactivation and activation.
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
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
Biochemistry & Molecular Biology
Melis A. Aksit, Bo Yu, Bernard A. J. Roelen, Barbara R. Migeon
Summary: X inactivation is a mechanism that equalizes the dosage of X chromosomal genes in mammals, but how the active X is protected from inactivation by XIST is not well understood. This study investigates the transcription timing of candidate genes in preimplantation embryos and suggests a role for DNMT1, UHRF1, SAFB, and SAFB2 in XIST repression.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Reproductive Biology
D. E. Goszczynski, P. S. Tinetti, Y. H. Choi, P. J. Ross, K. Hinrichs
Summary: The study revealed the parent-specific gene expression during early development, dynamics of the X-chromosome, and differences in gene expression between male and female embryos by integrating single embryo RNA-seq data and parental genome sequencing. Sexual dimorphism was observed in the gene expression, with females showing strong representation of the X-chromosome. The absence of imprinted X-inactivation and limited dosage compensation were also demonstrated in equine ICSI-derived embryos.
BIOLOGY OF REPRODUCTION
(2021)
Article
Biochemistry & Molecular Biology
Yazheng Dong, Xiao Wu, Xitong Peng, Liusong Yang, Baohua Tan, Huaxing Zhao, Enqin Zheng, Linjun Hong, Gengyuan Cai, Zhenfang Wu, Zicong Li
Summary: This study found that suppressing the expression of YY1 can improve the developmental ability of cloned pig embryos, providing a new method for increasing pig cloning efficiency.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Editorial Material
Biochemistry & Molecular Biology
Takashi Sado
Summary: The study shows that a subset of X-linked immune genes are repressed on the inactive X chromosome in B cells in a manner dependent on XIST RNA, and the derepression of these genes upon XIST depletion may bias the differentiation of naive B cells and be involved in the etiology of female-biased autoimmune diseases.
Article
Cell Biology
Shogo Matoba, Chisayo Kozuka, Kento Miura, Kimiko Inoue, Mami Kumon, Ryoya Hayashi, Tatsuya Ohhata, Atsuo Ogura, Azusa Inoue
Summary: Genomic imprinting regulates monoallelic gene expression dependent on parental origin. The LOI of noncanonical imprinted gene Xist, which causes aberrant transient maternal X-chromosome inactivation (XCI) at preimplantation, greatly affects the development of Eed matKO embryos. Noncanonical imprinting also restrains placental overgrowth.
GENES & DEVELOPMENT
(2022)
Article
Biochemistry & Molecular Biology
Shu Zhu, Anqi Wang, Wei Xu, Longfei Hu, Jiafan Sun, Xiuli Wang
Summary: This study used single-cell RNA sequencing to investigate the properties of ectopic endometrium (ECE), eutopic endometrium (EUE), and normal endometrium (NOE) in patients with endometriosis. The study found that myofibroblasts, pericytes, and macrophages were more abundant in ECE compared to non-ectopic tissues. Myofibroblasts mainly underwent fibroblast-to-myofibroblast transdifferentiation, while pericytes were dependent on endothelial cell differentiation. These findings suggest that targeting myofibroblasts, pericytes, and macrophages may be a potential therapeutic approach for endometriosis.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2023)
Article
Immunology
Leonardo da Silva Lara, Leonardo Andrade-Lima, Claudia Magalhaes Calvet, Juliana Borsoi, Thabata Lopes Alberto Duque, Andrea Henriques-Pons, Mirian Claudia Souza Pereira, Lygia Veiga Pereira
MICROBES AND INFECTION
(2018)
Article
Cell & Tissue Engineering
Stephen Sullivan, Glyn N. Stacey, Chihiro Akazawa, Naoki Aoyama, Ricardo Baptista, Patrick Bedford, Annelise Bennaceur Griscelli, Amit Chandra, Ngaire Elwood, Mathilde Girard, Shin Kawamata, Tadaaki Hanatani, Theodoros Latsis, Stephen Lin, Tenneille E. Ludwig, Tamara Malygina, Amanda Mack, Joanne C. Mountford, Scott Noggle, Lygia V. Pereira, Jack Price, Michael Sheldon, Alok Srivastava, Harald Stachelscheid, Shaji R. Velayudhan, Natalie J. Ward, Marc L. Turner, Jacqueline Barry, Jihwan Song
REGENERATIVE MEDICINE
(2018)
Article
Cell & Tissue Engineering
Jung-Hyun Kim, Alex Alderton, Jeremy M. Crook, Nissim Benvenisty, Catharina Brandsten, Meri Firpo, Peter W. Harrison, Shin Kawamata, Eihachiro Kawase, Andreas Kurtz, Jeanne F. Loring, Tenneille Ludwig, Jennifer Man, Joanne C. Mountford, Marc L. Turner, Steve Oh, Lygia da Veiga Pereira, Patricia Pranke, Michael Sheldon, Rachel Steeg, Stephen Sullivan, Michael Yaffe, Qi Zhou, Glyn N. Stacey
Article
Biochemistry & Molecular Biology
Julia B. Raices, Paulo A. Otto, Maria D. Vibranovski
Article
Clinical Neurology
Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrosio Fock, Ricardo Henrique Almeida Barbosa, Andre Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenco, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2019)
Editorial Material
Cell & Tissue Engineering
Fabiano A. Tofoli, Hsin Fen Chien, Egberto Reis Barbosa, Lygia Pereira
STEM CELL RESEARCH
(2019)
Article
Multidisciplinary Sciences
Rodrigo Barbosa de Souza, Luis Ernesto L. Farinha-Arcieri, Marcia Helena Braga Catroxo, Ana Maria Cristina Rebelo Pinto da Fonseca Martins, Roberto Carlos Tedesco, Luis Garcia Alonso, Ivan Hong Jun Koh, Lygia Pereira
Article
Biochemistry & Molecular Biology
Patricia Nolasco, Carolina Goncalves Fernandes, Joao Carlos Ribeiro-Silva, Percillia V. S. Oliveira, Mariana Sacrini, Isis Vasconcelos de Brito, Tiphany Coralie De Bessa, Lygia V. Pereira, Leonardo Y. Tanaka, Adriano Alencar, Francisco Rafael Martins Laurindo
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2020)
Article
Cell & Tissue Engineering
Fabiano de Araujo Tofoli, Hsin Fen Chien, Egberto Reis Barbosa, Lygia V. Pereira
STEM CELL RESEARCH
(2019)
Article
Ophthalmology
Eleanor M. Feneck, Rodrigo B. Souza, Philip N. Lewis, Sally Hayes, Lygia Pereira, Keith M. Meek
EXPERIMENTAL EYE RESEARCH
(2020)
Article
Biochemistry & Molecular Biology
Isabela Gerdes Gyuricza, Rodrigo Barbosa de Souza, Luis Ernesto Farinha-Arcieri, Gustavo Ribeiro Fernandes, Lygia Veiga Pereira
EUROPEAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Genetics & Heredity
George P. Patrinos, Emmanouil Pasparakis, Erasmia Koiliari, Alexandre C. Pereira, Tabita Hunemeier, Lygia V. Pereira, Christina Mitropoulou
AMERICAN JOURNAL OF HUMAN GENETICS
(2020)
Article
Multidisciplinary Sciences
Ana Luiza Cidral, Joana C. Moreira de Mello, Joost Gribnau, Lygia Pereira
Summary: Dosage compensation of X-linked gene expression in mammals is achieved through different mechanisms, with human embryos showing X chromosome inactivation at the morula stage, while marmosets exhibit a different mechanism for X chromosome dampening and dosage compensation in females.
SCIENTIFIC REPORTS
(2021)
Article
Ecology
Murillo F. Rodrigues, Maria D. Vibranovski, Rodrigo Cogni
Summary: Spatial and seasonal variations in environmental conditions can lead to covariation between environment and allele frequencies in natural populations, with natural selection playing a significant role in driving these fluctuations.
Meeting Abstract
Cardiac & Cardiovascular Systems
M. C. Guido, V. Debbas, N. M. Lopes, J. C. A. Ferreira-Filho, V. M. C. Salemi, L. V. Pereira, R. C. Maranhao, F. R. M. Laurindo
EUROPEAN HEART JOURNAL
(2019)