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)
Article
Multidisciplinary Sciences
Ryoma Ota, Makoto Hayashi, Shumpei Morita, Hiroki Miura, Satoru Kobayashi
Summary: Dosage compensation equalizes sex chromosome gene expression between the sexes in Drosophila, achieved by the male-specific lethal (MSL) complex in somatic cells. However, it remains unclear whether dosage compensation occurs in germline cells. Transcriptome analysis showed higher expression of X-linked genes in female primordial germ cells (PGCs) compared to males, with absence of H4K16ac due to failure of MSL complex formation in male PGCs.
SCIENTIFIC REPORTS
(2021)
Article
Biology
Yoshikazu Haramoto, Mino Sakata, Shin Kobayashi
Summary: X chromosome reactivation (XCR) progresses along with the proliferation and clustering of primordial germ cells (PGCs) within the genital ridge, with epigenetic memory erasure timing varying according to the locus of X-linked genes.
Article
Cell & Tissue Engineering
Sheng Yang, Zhen Liu, Shengda Wu, Lang Zou, Yanpei Cao, Hongjia Xu, Jingfeng Huang, Qingyan Tian, Fanggui Wu, Panpan Li, Shuping Peng, Cijun Shuai
Summary: This study successfully induced primordial germ cells and oocytes from human iPSCs, and facilitated oocyte differentiation through activation of the Wnt signaling pathway and reconstruction of ovarian nests.
STEM CELL RESEARCH & THERAPY
(2022)
Article
Multidisciplinary Sciences
Sarah Pyfrom, Bam Paneru, James J. Knox, Michael P. Cancro, Sylvia Posso, Jane H. Buckner, Montserrat C. Anguera
Summary: SLE, a female-predominant autoimmune disease, is associated with X-linked gene inactivation and abnormal X chromosome inactivation in B cells. Researchers found that aberrant maintenance of X chromosome inactivation in B cells is a feature of SLE, leading to abnormal X-linked gene expression.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Yuxiao Ma, Wenhui Wu, Yun Zhang, Xuzhao Wang, Jiahui Wei, Xiaotong Guo, Man Xue, Guiyu Zhu
Summary: There are significant differences in egg production between layer and broiler hens. This study compared cellular phenotype and gene expression patterns during the early development of germ cells in both types of chickens and found differences in cell proliferation but equal ability to initiate meiosis. The divergence in egg production performance may be attributed to non-cell autonomous mechanisms involved in germ-somatic cell interactions.
Review
Cell & Tissue Engineering
Peter W. Andrews, Ivana Barbaric, Nissim Benvenisty, Jonathan S. Draper, Tenneille Ludwig, Florian T. Merkle, Yoji Sato, Claudia Spits, Glyn N. Stacey, Haoyi Wang, Martin F. Pera
Summary: This study summarizes the genetic and epigenetic changes that human pluripotent stem cells (hPSCs) can acquire during in vitro culture, as well as the methods for detecting these changes and their effects on cell behavior. The study argues that the potential consequences of low-level contamination of cell therapy products with cells bearing oncogenic variants are currently unknown, and highlights the challenges in safety assessment of hPSC-derived cellular therapeutics.
Review
Endocrinology & Metabolism
Candela R. Gonzalez, Betina Gonzalez
Summary: Spermatogenesis is regulated by unique epigenetic programs, which can be influenced by paternal lifestyle stressors and affect the development and behavior of offspring. Understanding the impact of environmental perturbations on sperm epigenetics is crucial for unraveling the mechanisms of stress transmission between generations.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Multidisciplinary Sciences
Mengwen Hu, Yu-Han Yeh, Yasuhisa Munakata, Hironori Abe, Akihiko Sakashita, So Maezawa, Miguel Vidal, Haruhiko Koseki, Neil Hunter, Richard M. Schultz, Satoshi H. Namekawa
Summary: The Polycomb Repressive Complex 1 (PRC1) is crucial for the formation and maintenance of the ovarian reserve, which is essential for the female reproductive lifespan. Through establishing repressive chromatin states, PRC1 suppresses the gene expression program of meiotic prophase-I, enabling the transition to dictyate arrest and preventing the depletion of the ovarian reserve.
NATURE COMMUNICATIONS
(2022)
Article
Cell Biology
Yolanda W. Chang, Arend W. Overeem, Celine M. Roelse, Xueying Fan, Christian Freund, Susana M. Chuva de Sousa Lopes
Summary: The study investigated whether differences in X chromosome inactivation in female hPSCs could affect the variability in hPGCLC differentiation efficiency. Results showed that XCI state did not directly impact differentiation efficiency, but rather depended on the cell source. Regardless of the XCI state of hPSCs, both hPGCLCs and soma cells in EBs exhibited signs of X chromosome inactivation.
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
Zeba Sultana, Mathurin Dorel, Bertram Klinger, Anja Sieber, Ilona Dunkel, Nils Bluethgen, Edda G. Schulz
Summary: By combining systematic perturbation experiments with mathematical modeling, it was found that the number of active X chromosomes in mouse embryonic stem cells affects cell signaling and differentiation propensity. The presence of a single active X chromosome makes cells more sensitive to differentiation-promoting pathways and leads to a stronger negative feedback in the MAPK pathway. This may explain the delayed differentiation observed in female mouse embryonic stem cells.
MOLECULAR SYSTEMS BIOLOGY
(2023)
Article
Medicine, Research & Experimental
Ming Xing, Na Wang, Hanyi Zeng, Jun Zhang
Summary: This study reveals the significant role of metabolites in activating gene regulatory networks and promoting specialization of germ cell lineage. Inhibition of glutaminolysis hinders the specialization of PGCLCs, which can be rescued by adding alpha-ketoglutarate to promote H3K27me3 demethylation and accelerate PGCLC specialization.
JOURNAL OF BIOMEDICAL RESEARCH
(2021)
Article
Biology
Yasunari Seita, Keren Cheng, John R. McCarrey, Nomesh Yadu, Ian H. Cheeseman, Alec Bagwell, Corinna N. Ross, Isamar Santana Toro, Li-hua Yen, Sean Vargas, Christopher S. Navara, Brian P. Hermann, Kotaro Sasaki
Summary: This study successfully established a method for culturing mid-gestation mouse iPSCs on a feeder layer, which can further differentiate into cells similar to primordial germ cells (PGCLCs). Furthermore, these cells can acquire an early developmental germ cell phenotype when co-cultured with mouse testicular somatic cells.
Review
Cell Biology
Aditi Singh, Daniel A. Rappolee, Douglas M. Ruden
Summary: This review discusses the understanding of epigenetic reprogramming from fertilization to the development of primordial germline cells in a mouse and human embryo. The intricate interplay between genetic, epigenetic, and environmental factors during cellular reprogramming and embryonic differentiation is essential for gaining insights into the molecular basis of various diseases. The alterations in DNA methylation and histone modifications have been linked to a wide range of diseases.
Article
Biochemistry & Molecular Biology
Moritz Bauer, Bernhard Payer, Guillaume J. Filion
Summary: The spatial organization of genomes is closely related to transcription, and understanding whether gene activity is a cause or consequence of genome folding is an important research objective. Recent studies on the structural changes associated with X-chromosome inactivation and reactivation shed light on this cause-consequence relationship between genome conformation and transcription.
Article
Biotechnology & Applied Microbiology
Hiroshi Yagi, Ichiro Onoyama, Kazuo Asanoma, Minoru Kawakami, Shoji Maenohara, Keisuke Kodama, Yumiko Matsumura, Norio Hamada, Emiko Hori, Kazuhisa Hachisuga, Masafumi Yasunaga, Tatsuhiro Ohgami, Kaoru Okugawa, Hideaki Yahata, Kiyoko Kato
Summary: Increased expression of G alpha(13) promotes cell proliferation in human endometrial cancer through activation of Rho and AP-1. ARHGAP35 is frequently mutated in endometrial cancer, with 55 tumor-derived mutations impairing its RhoGAP activity. This suggests ARHGAP35 as an oncogenic driver gene and provides new therapeutic opportunities for endometrial cancer.
CANCER GENE THERAPY
(2023)
Article
Multidisciplinary Sciences
Kimiyo Kikuchi, Takehiro Michikawa, Seiichi Morokuma, Norio Hamada, Yoshiko Suetsugu, Kazushige Nakahara, Kiyoko Kato, Masafumi Sanefuji, Eiji Shibata, Mayumi Tsuji, Masayuki Shimono, Toshihiro Kawamoto, Shouichi Ohga, Koichi Kusuhara
Summary: This study examined the relationship between infant sleep quality and temperament in one-month-old infants. The findings showed that frequent crying and intense crying were associated with longer daytime sleep periods. Female infants with longer daytime sleep periods were more likely to cry frequently. Parous women with infants who had frequent night awakening believed their infants cried more intensely.
Article
Multidisciplinary Sciences
Hirosuke Inoue, Masafumi Sanefuji, Yuri Sonoda, Masanobu Ogawa, Norio Hamada, Masayuki Shimono, Reiko Suga, Shoji F. Nakayama, Yu Taniguchi, Koichi Kusuhara, Shouichi Ohga, Michihiro Kamijima
Summary: This study aimed to investigate the association between prenatal blood lead levels and neurodevelopmental delay during early childhood. The analysis of a large dataset showed no convincing evidence for an inverse association between levels of prenatal blood lead and neurodevelopment in early childhood. Further longitudinal measurements of both prenatal and postnatal lead levels are needed to better understand the relationship between lead exposure and neurocognitive development.
SCIENTIFIC REPORTS
(2022)
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)
Article
Biology
Luis Felipe Morales-Curiel, Adriana Carolina Gonzalez, Gustavo Castro-Olvera, Li-Chun (Lynn) Lin, Malak El-Quessny, Montserrat Porta-de-la-Riva, Jacqueline Severino, Laura Battle Morera, Valeria Venturini, Verena Ruprecht, Diego Ramallo, Pablo Loza-Alvarez, Michael Krieg
Summary: Researchers have developed an improved low-light microscope combined with deep learning methods, enabling imaging of extremely photon-starved samples with subsecond exposures for timelapse and volumetric imaging.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Tom Mattimoe, Bernhard Payer
Summary: This article provides an overview of the complex dynamics of X-chromosome dosage control in female mammals and explores its potential role in normal germline competency.
BIOCHEMICAL JOURNAL
(2023)
Article
Multidisciplinary Sciences
Kenta Murakami, Nobuhiko Hamazaki, Norio Hamada, Go Nagamatsu, Ikuhiro Okamoto, Hiroshi Ohta, Yoshiaki Nosaka, Yukiko Ishikura, Tomoya S. Kitajima, Yuichiro Semba, Yuya Kunisaki, Fumio Arai, Koichi Akashi, Mitinori Saitou, Kiyoko Kato, Katsuhiko Hayashi
Summary: Sex chromosome disorders disrupt gametogenesis in both males and females. This study successfully converted the XY chromosome set to XX in mouse pluripotent stem cells and eliminated trisomy 16 associated with Down's syndrome. The artificially produced XX cells differentiated into mature oocytes and successfully resulted in offspring after fertilization. These findings have important implications for treating infertility caused by chromosomal disorders and offer the possibility of bipaternal reproduction.
Article
Biochemistry & Molecular Biology
Eishi Aizawa, Evgeniy A. Ozonov, Yumiko K. Kawamura, Charles-Etienne Dumeau, So Nagaoka, Tomoya S. Kitajima, Mitinori Saitou, Antoine H. F. M. Peters, Anton Wutz
Summary: Recent studies have compared the development of mouse germ cells in vitro and in vivo, and identified key factors contributing to the low developmental competence of in vitro-derived oocytes, including misregulation of genes involved in oocyte growth and abnormal epigenetic regulation during early oogenesis.