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Nat Commun
January 2025
Instituto de Biología Funcional y Genómica, Zacarías González 2, Salamanca, 37007, Spain.
Accurate gametogenesis requires the establishment of the telomere bouquet, an evolutionarily conserved, 3D chromosomal arrangement. In this spatial configuration, telomeres temporarily aggregate at the nuclear envelope during meiotic prophase, which facilitates chromosome pairing and recombination. The mechanisms governing the assembly of the telomere bouquet remain largely unexplored, primarily due to the challenges in visualizing and manipulating the bouquet.
View Article and Find Full Text PDFDevelopment
January 2025
School of Biomedical Sciences, The University of Queensland, Brisbane, Queensland 4072, Australia.
A successful mitosis-to-meiosis transition in germ cells is essential for fertility in sexually reproducing organisms. In mice and humans, it is established that expression of STRA8 is critical for meiotic onset in both sexes. Here we show that BMP signalling is also essential, not for STRA8 induction but for correct meiotic progression in female mouse fetal germ cells.
View Article and Find Full Text PDFGenetics
January 2025
Department of Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Bloom Syndrome helicase (Blm) is a RecQ family helicase involved in DNA repair, cell-cycle progression, and development. Pathogenic variants in human BLM cause the autosomal recessive disorder Bloom Syndrome, characterized by predisposition to numerous types of cancer. Prior studies of Drosophila Blm mutants lacking helicase activity or protein have shown sensitivity to DNA damaging agents, defects in repairing DNA double-strand breaks (DSBs), female sterility, and improper segregation of chromosomes in meiosis.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Department of Obstetrics and Gynecology, the Affiliated Hospital of Nantong University, Nantong, Jiangsu 226001, China.
Objective: To explore the genetic characteristics of a Chinese pedigree with rare mosaic 11q partial duplication and its pathogenetic mechanisms.
Methods: A pedigree which underwent prenatal diagnosis at Wenzhou Central Hospital between September 25, 2015 and November 30, 2023 was selected for the study. Clinical data were collected from the pedigree.
Genes (Basel)
December 2024
Department of Biology, Hamilton College, Clinton, NY 13323, USA.
(maize) is both an agronomically important crop and a powerful genetic model system with an extensive molecular toolkit and genomic resources. With these tools, maize is an optimal system for cytogenetic study, particularly in the investigation of chromosome segregation. Here, we review the advances made in maize chromosome segregation, specifically in the regulation and dynamic assembly of the mitotic and meiotic spindle, the inheritance and mechanisms of the abnormal chromosome variant Ab10, the regulation of chromosome-spindle interactions via the spindle assembly checkpoint, and the function of kinetochore proteins that bridge chromosomes and spindles.
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