Article
Reproductive Biology
Xiangyan Dai, Xinkai Cheng, Jianfei Huang, Yanping Gao, Deshou Wang, Zhi Feng, Gang Zhai, Qiyong Lou, Jiangyan He, Zhijian Wang, Zhan Yin
Summary: Our study demonstrates the crucial role of Rbm46 in zebrafish reproduction, showing that disruption of Rbm46 leads to masculinization and infertility by impairing germ cell progression through meiosis prophase I. Rbm46 may be involved in posttranscriptional regulation of key genes essential for germ cell development during gametogenesis.
BIOLOGY OF REPRODUCTION
(2021)
Article
Multidisciplinary Sciences
Longfei Zhu, Nadia Fernandez-Jimenez, Maja Szymanska-Lejman, Alexandre Pele, Charles J. Underwood, Heidi Serra, Christophe Lambing, Julia Dluzewska, Tomasz Bieluszewski, Monica Pradillo, Ian R. Henderson, Piotr A. Ziolkowski
Summary: This study reveals the importance of the SMC5/6 complex in ensuring the proper progress of meiotic recombination in plants, showing the impact of SNI1 mutations and interactions with other genes on crossover distribution.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Cell Biology
Elena Llano, Alberto M. Pendas
Summary: The synaptonemal complex (SC) forms during meiosis I and is involved in the synapses of homologous chromosomes, repair of double-strand breaks (DSBs), and formation of crossovers (COs). Defects in SC assembly or meiotic recombination machinery can cause meiotic arrest and infertility. Many proteins involved in these processes are meiosis-specific, but some also have roles in somatic DNA repair and are associated with cancer development.
Article
Developmental Biology
Oleksandr Kirsanov, Taylor Johnson, Taylor Malachowski, Bryan A. Niedenberger, Emma A. Gilbert, Debajit Bhowmick, P. Hande Ozdinler, Douglas A. Gray, Kelsey Fisher-Wellman, Brian P. Hermann, Christopher B. Geyer
Summary: We have developed a facile in vitro differentiation and meiotic initiation system that can be manipulated using chemical agents that cannot be administered to live animals. Additionally, we introduced a transgenic mouse model enabling the isolation of specific developmental stages of spermatogonia and meiotic spermatocytes.
Review
Biochemistry & Molecular Biology
Fengguo Zhang, Mengfei Liu, Jinmin Gao
Summary: Around 10% of reproductive-aged couples suffer from infertility, but the genetic causes of human infertility are largely unknown. Errors in meiosis, the process that produces gametes for fertilization, are associated with infertility in both males and females. Successful meiosis relies on the assembly of the synaptonemal complex (SC) between paired homologous chromosomes. Mutations in SC coding genes have been linked to human infertility, and complex interaction networks associated with SC components have been identified. Further investigations are needed to determine the role of genetic variations and environmental factors in human infertility.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Article
Cell Biology
Kazi Nazrul Islam, Maitri Mitesh Modi, Kellee Renee Siegfried
Summary: The SMC1β protein plays a crucial role in meiosis in vertebrates, primarily involved in meiosis in both fish and mammals. In zebrafish, Smc1b is essential for the leptotene to zygotene transition in spermatogenesis, with key differences in Smc1b requirement for meiosis observed among vertebrates.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Marina Marcet-Ortega, Andros Maldonado-Linares, Maria Lopez-Panades, Ignasi Roig
Summary: This study provides a detailed analysis of the role of p53 in meiotic prophase in mouse spermatocytes. The absence of p53 slows down prophase progression and affects crossover formation and localization. These findings contribute to a deeper understanding of the functions of p53 during meiotic prophase.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Danni Wang, Hongzheng Sun, Jiaqi Zhang, Zhenyue Huang, Congyang Li, Longsen Han, Yongan Xin, Shoubin Tang, Juan Ge, Qiang Wang
Summary: FKBP25 plays a crucial role in oocyte maturation by affecting spindle assembly, chromosome alignment, and kinetochore-microtubule attachment. Depletion of FKBP25 results in elevated aneuploidy incidence in oocytes. Reduced levels of FKBP25 protein in old oocytes can be partly rescued by ectopic expression of FKBP25, which is also found to have phosphorylation at serine 163 affecting its action on meiotic maturation.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Plant Sciences
Maria Cuacos, Christophe Lambing, Miguel Pachon-Penalba, Kim Osman, Susan J. Armstrong, Ian R. Henderson, Eugenio Sanchez-Moran, F. Christopher H. Franklin, Stefan Heckmann
Summary: In Brassica rapa, axis formation and remodelling are crucial for meiotic fidelity, including synapsis and crossover (CO) formation. Mutants of ASY1 and PCH2 show altered distribution of CO, with asy1 plants being sterile and pch2 plants being semi-sterile, making PCH2 a potential target for breeding programs.
JOURNAL OF EXPERIMENTAL BOTANY
(2021)
Article
Genetics & Heredity
Albert Salas-Huetos, Frank Tuettelmann, Margot J. Wyrwoll, Sabine Kliesch, Alexandra M. Lopes, Joao Concalves, Steven E. Boyden, Marius Woeste, James M. Hotaling, Liina Nagirnaja, Donald F. Conrad, Douglas T. Carrell, Kenneth I. Aston
Summary: This study identified novel TERB2 variants associated with idiopathic NOA and highlighted the potential role of MTC genes in spermatogenic impairment. Variants in MTC genes may be an important cause of NOA in both consanguineous and outbred populations.
Review
Cell Biology
Xiaoyi Wang, Melissa E. Pepling
Summary: This article discusses the meiotic process of female mammalian oocytes during embryonic development, highlighting the events and mechanisms from meiotic prophase one to metaphase two. It emphasizes the importance of understanding the mechanisms regulating meiotic progression to improve treatments for female infertility, as errors in meiosis can lead to aneuploidy.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Muhammad Azhar, Saba Altaf, Islam Uddin, Jinbao Cheng, Limin Wu, Xianhong Tong, Weibing Qin, Jianqiang Bao
Summary: Declined quality and quantity of sperm is the major cause of male infertility, with environmental factors and genetic mutations playing significant roles in defective male germline development. Studies have revealed disease-causing genetic variants associated with spermiogenic defects in both mice and humans, shedding light on mechanisms for improved diagnosis and treatment.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Guangyi Cao
Summary: The correct assembly and regulation of the spindle apparatus are crucial for the precise separation of chromosomes in mouse oocytes. NUSAP1 is a spindle-associated protein that plays an important role in oocyte meiosis maturation. Its depletion leads to chromosome misalignment, aneuploidy, and abnormal spindle assembly.
JOURNAL OF CELLULAR BIOCHEMISTRY
(2023)
Article
Toxicology
Ji-Guang Gao, Yu Jiang, Jiu-Tao Zheng, Liu-Wang Nie
Summary: Teenagers who consume junk foods high in acrylamide (AA) may experience decreased reproductive capacity. This study investigated the effects of pubertal AA exposure on spermatogenesis in male mice. The results showed that AA exposure during puberty led to increased germ cell apoptosis, decreased sperm concentration, and defects in sperm. AA exposure also disrupted the meiotic process, affecting the progression of meiotic prophase I.
TOXICOLOGY LETTERS
(2022)
Article
Genetics & Heredity
Leah F. Rosin, Jose Gil, Ines A. Drinnenberg, Elissa P. Lei
Summary: Accurate chromosome segregation is crucial for reproductive success. The use of Oligopaints in the silkworm Bombyx mori has provided new insights into mechanisms of homolog pairing during meiosis, revealing asynchronous pairing, transcription-biased pairing in males, and similarities in bivalent formation with C. elegans. Furthermore, the study suggests that microtubule recruitment may be dependent on kinetochore proteins but independent of centromeres, and that telomeres play a central role in regulating chromosome interactions during sperm and egg development.
Review
Obstetrics & Gynecology
Myrthe A. J. Smits, Merel van Maarle, Geert Hamer, Sebastiaan Mastenbroek, Mariette Goddijn, Madelon van Wely
REPRODUCTIVE BIOMEDICINE ONLINE
(2020)
Article
Obstetrics & Gynecology
Robbert P. Berkhout, Remco Keijser, Sjoerd Repping, Cornelis B. Lambalk, Gijs B. Afink, Sebastiaan Mastenbroek, Geert Hamer
HUMAN REPRODUCTION
(2020)
Article
Biochemistry & Molecular Biology
Thao P. Phan, Aubrey L. Maryniak, Christina A. Boatwright, Junsu Lee, Alisa Atkins, Andrea Tijhuis, Diana C. J. Spierings, Hisham Bazzi, Floris Foijer, Philip W. Jordan, Travis H. Stracker, Andrew J. Holland
Summary: Depletion of centrosome proteins in neural progenitor cells (NPCs) prolongs mitosis and increases TP53-mediated apoptosis in the developing brain. Activation of the mitotic surveillance pathway by mitotic delays is proposed to be the mechanism behind microcephaly caused by mutations in centrosome genes. Loss of 53BP1 or USP28 can rescue cell death after delayed mitosis in NPCs, restoring NPC proliferation and brain size.
Article
Oncology
Jan Willem Bruggeman, Naoko Irie, Paul Lodder, Ans M. M. van Pelt, Jan Koster, Geert Hamer
Article
Biochemistry & Molecular Biology
Stephen R. Wellard, Yujiao Zhang, Chris Shults, Xueqi Zhao, Matthew McKay, Stephen A. Murray, Philip W. Jordan
Summary: The study highlights the critical role of centriole duplication, centrosome maturation, and separation in establishing bipolar spindles during meiotic divisions. The findings show that Polo-like kinase 1 and Aurora A kinase are essential for centrosome maturation and separation, and PLK1 is required to inhibit the second round of centriole duplication until late anaphase I to ensure accurate chromosome segregation during spermatogenesis.
Article
Genetics & Heredity
Xueying Fan, Ioannis Moustakas, Vanessa Torrens-Juaneda, Qijing Lei, Geert Hamer, Leoni A. Louwe, Gonneke S. K. Pilgram, Karoly Szuhai, Roberto Matorras, Cristina Eguizabal, Lucette van der Westerlaken, Hailiang Mei, Susana M. Chuva de Sousa Lopes
Summary: This study provides a comprehensive analysis of the molecular characteristics and differences between male and female germ cells in meiotic prophase I, revealing specific features of female germ cells in the leptotene, zygotene, pachytene, and diplotene stages, as well as conserved and distinct components between sexes. The analysis of X-linked expression during meiotic prophase I suggests unique patterns in females compared to males, such as a transient X-linked enrichment in female pachytene. This study enhances the understanding of female meiosis during development and offers insights into infertility and germline sex dimorphism in humans.
Correction
Biochemistry & Molecular Biology
Stephen R. Wellard, Yujiao Zhang, Chris Shults, Xueqi Zhao, Matthew McKay, Stephen A. Murray, Philip W. Jordan
Article
Obstetrics & Gynecology
M. J. Wyrwoll, E. S. van Walree, G. Hamer, N. Rotte, M. M. Motazacker, H. Meijers-Heijboer, M. Alders, A. Meissner, E. Kaminsky, M. Woeste, C. Krallmann, S. Kliesch, T. J. Hunt, A. T. Clark, S. Silber, B. Stallmeyer, C. Friedrich, A. M. M. van Pelt, I. B. Mathijssen, F. Tuettelmann
Summary: The study identified bi-allelic variants in MSH4 and MSH5 as causes of male infertility, expanding the understanding of genetic factors contributing to azoospermia.
HUMAN REPRODUCTION
(2022)
Article
Endocrinology & Metabolism
Qijing Lei, Eden Zhang, Ans M. M. van Pelt, Geert Hamer
Summary: Although in vitro-derived spermatocytes reached the MI stage and displayed complete chromosome synapsis and normal XY-body formation, meiotic recombination was still insufficient with few crossovers formed, resulting in MI-spermatocytes displaying univalent chromosomes. This indicates the importance of closely monitoring meiotic crossover formation when mimicking gametogenesis in vitro to prevent the generation of aneuploid gametes, as meiotic checkpoints may not function fully in vitro.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Iris Sanou, Jillis van Maaren, Jitske Eliveld, Qijing Lei, Andreas Meissner, Annemieke A. de Melker, Geert Hamer, Ans M. M. van Pelt, Callista L. Mulder
Summary: Fertility preservation through biobanking of testicular tissue is recommended for boys undergoing treatment before puberty. However, current fertility therapies using SSCs are still in preclinical phases. Further research and resolution of major issues are needed for optimal clinical implementation.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Cell Biology
Thao P. Phan, Christina A. Boatwright, Chelsea G. Drown, Marnie W. Skinner, Margaret A. Strong, Philip W. Jordan, Andrew J. Holland
Summary: This study reveals the translational control of PLK4 through uORFs and its crucial role in preventing centriole amplification and preserving genomic integrity in germ cells. Knockout of Plk4 uORFs leads to reduced fertility and increased mitotic errors in mice, which can be rescued by reducing Plk4 mRNA levels. These findings highlight the importance of uORF-mediated translational suppression of PLK4 in maintaining proper cell division and preventing disease progression.
GENES & DEVELOPMENT
(2022)
Article
Biochemistry & Molecular Biology
Jan Willem Bruggeman, Jan Koster, Ans M. M. van Pelt, Dave Speijer, Geert Hamer
Summary: This article proposes a hypothesis that activating the germline program promotes cancer cell malignancy. The four hallmark processes of the germline, including meiosis, epigenetic plasticity, migration, and metabolic plasticity, enable germ cells and cancer cells to have replicative immortality. Especially, meiotic genes are frequently expressed in cancer, suggesting their potential role in oncogenesis.
Article
Cell & Tissue Engineering
Marina Pryzhkova, Romina Boers, Philip W. Jordan
Summary: This study developed a simple bioreactor-based organoid culture system to model early human gonad development. It provides opportunities for studying the causes of sex development disorders, advancing our understanding of human gonad and germ cell development. Additionally, this technology can be applied to modeling causes of infertility and regenerative medicine applications.
TISSUE ENGINEERING AND REGENERATIVE MEDICINE
(2022)
Article
Obstetrics & Gynecology
Myrthe A. J. Smits, Georges E. Janssens, Mariette Goddijn, Geert Hamer, Riekelt H. Houtkooper, Sebastiaan Mastenbroek
Summary: The study found that pathways involved in growth, metabolism, and cell-cycle progression related to somatic cell aging are also associated with ovarian aging. Signs of ovarian aging can occur at a younger age in females, showing that ovarian aging does not follow the same timeline as somatic cell aging.
HUMAN REPRODUCTION OPEN
(2021)
Article
Cell & Tissue Engineering
Qijing Lei, Xin Lai, Jitske Eliveld, Susana M. Chuva de Sousa Lopes, Ans M. M. van Pelt, Geert Hamer