The relationship between activity of chromosomal nucleolus-organizer regions and levels of chromosome aberrations was studied in 215 residents of the Kursk region by visual semiquantitative method (silver staining of the nucleolus-organizer regions, NOR) in chromosomes of peripheral blood lymphocytes. The levels of chromosome aberrations differed significantly in three groups differing by the levels of 10AgNOR, which can be explained by different proliferative activity in these groups. The lowest level of chromosome aberrations was found in subjects with high transcription activity of NOR, presumably due to high proliferative activity in this group and more intensive synthesis of proteins, including the reparation enzymes. The highest level of chromosome aberrations was detected in the group with the medium level of 10AgNOR.
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http://dx.doi.org/10.1007/s10517-010-0940-1 | DOI Listing |
Sci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFTheor Appl Genet
January 2025
Grasslands Research Centre, AgResearch Ltd, Private Bag 11008, Palmerston North, 4442, New Zealand.
Genomic selection using white clover multi-year-multi-site data showed predicted genetic gains through integrating among-half-sibling-family phenotypic selection and within-family genomic selection were up to 89% greater than half-sibling-family phenotypic selection alone. Genomic selection, an effective breeding tool used widely in plants and animals for improving low-heritability traits, has only recently been applied to forages. We explored the feasibility of implementing genomic selection in white clover (Trifolium repens L.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Mature aggressive B-cell lymphomas, such as Burkitt lymphoma (BL) and Diffuse large B-cell lymphoma (DLBCL), show variations in microRNA (miRNA) expression. The entity of High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) shares several biological features with both BL and DLBCL but data on its miRNA expression profile are yet scarce. Hence, this study aims to analyze the potential differences in miRNA expression of HGBCL-11q compared to BL and DLBCL.
View Article and Find Full Text PDFBackground: Mitosis maintains a genome's genetic information in daughter cells by accurately segregating chromosomes. However, chromosome aberrations are common during early mammalian embryogenesis. Chromosomal abnormalities during the early stages of embryogenesis result in the formation of mosaic embryos, wherein cells with normal genomes coexist with cells exhibiting abnormal genomes.
View Article and Find Full Text PDFSci Data
January 2025
Beijing Key Laboratory of Environment Friendly Management on Fruit Diseases and Pests in North China, Key Laboratory of Environment Friendly Management on Fruit and Vegetable Pests in North China (Co-construction by Ministry and Province), Ministry of Agriculture and Rural Affairs, Institute of Plant Protection, Beijing Academy of Agriculture and Forestry Sciences, Beijing, 100097, China.
Chinese cherry belongs to the family Rosaceae, genus Prunus, and has high nutritional and economic value. 'Duiying' is a Chinese cherry variety local to Beijing, and has better performance than sweet cherry in terms of disease resistance. However, disease resistance resources of 'Duiying' have not been fully exploited partially due to the lack of a high-quality genome.
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