Meiotic segregation products were studied in sperm from two men heterozygous for the reciprocal translocations t(8;15)(p22;q21) and t(3;16)(p23;q24). A total of 226 and 201 sperm complements, respectively, were analyzed. In each translocation, 63% of complements were unbalanced, and alternate and adjacent 1 percentages were similar. The 3:1 segregation frequencies produced by the two translocations were 3.5% and 5.0%.
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Genetics
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 PDFGenes (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.
View Article and Find Full Text PDFIn meiosis, one round of DNA replication followed by two rounds of chromosome segregation halves the ploidy of the original cell. Accurate chromosome segregation in meiosis I depends on recombination between homologous chromosomes. Sister centromeres attach to the same spindle pole in this division and only segregate in meiosis II.
View Article and Find Full Text PDFNew Phytol
January 2025
Department of Chromosome Biology, Max Planck Institute for Plant Breeding Research, Carl-von-Linné-Weg 10, 50829, Cologne, Germany.
Karyotype changes are a formidable evolutionary force by directly impacting cross-incompatibility, gene dosage, genetic linkage, chromosome segregation, and meiotic recombination landscape. These changes often arise spontaneously and are commonly detected within plant lineages, even between closely related accessions. One element that can influence drastic karyotype changes after only one (or few) plant generations is the alteration of the centromere position, number, distribution, or even its strength.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
HHMI, University of California, Davis, CA 95616.
During meiosis, each pair of homologous chromosomes becomes connected by at least one crossover, as required for accurate segregation, and adjacent crossovers are widely separated thereby limiting total numbers. In coarsening models, this crossover patterning results from nascent recombination sites competing to accrue a limiting pro-crossover RING-domain protein (COR) that diffuses between synapsed chromosomes. Here, we delineate the localization dynamics of three mammalian CORs in the mouse and determine their interdependencies.
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