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Modelling human diseases caused by large genomic rearrangements has become more accessible since the utilization of CRISPR/Cas9 in mammalian systems. In a previous study, we showed that genomic rearrangements of up to one million base pairs can be generated by direct injection of CRISPR/Cas9 reagents into mouse zygotes. Although these rearrangements are ascertained by junction PCR, we describe here a variety of anticipated structural changes often involving reintegration of the region demarcated by the gRNAs in the vicinity of the edited locus. We illustrate here some of this diversity detected by high-resolution fibre-FISH and conclude that extensive molecular analysis is required to fully understand the structure of engineered chromosomes generated by Cas9.
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http://dx.doi.org/10.1038/s41598-017-12740-6 | DOI Listing |
Int J Surg Pathol
September 2025
Department of Pathology, The Thirteenth People's Hospital of Chongqing, Chongqing, China.
Soft tissue sarcomas are a heterogeneous group of malignancies arising from mesenchymal cells. Recent advancements in genomic profiling have identified novel gene fusions in these tumors, offering new insights into their pathogenesis and potential therapeutic targets. Here, we describe a spindle cell sarcoma harboring a novel gene fusion.
View Article and Find Full Text PDFTransposition is a well-known genome rearrangement event that switches two consecutive sub-strings on a string. Since a transposition makes changes to a string, the genome here is just a string. The problem of transforming one string into the other by a sequence of transposition operations has attracted a lot of attention.
View Article and Find Full Text PDFNucleic Acids Res
September 2025
Institute of Biophysics of the Czech Academy of Sciences, Královopolská 135, Brno 61200, Czech Republic.
RNA G-quadruplexes (rG4s) are emerging as vital structural elements involved in processes like gene regulation, translation, and genome stability. Found in untranslated regions of messenger RNAs (mRNAs), they influence translation efficiency and mRNA localization. Additionally, rG4s of long noncoding RNAs and telomeric RNA play roles in RNA processing and cellular aging.
View Article and Find Full Text PDFFront Plant Sci
August 2025
Botany Area, Department of Plant Biology and Ecology, Faculty of Biology, University of Seville, Seville, Spain.
Understanding the relationship between macro- and microevolutionary processes and their delimitation remains a challenge. This review focuses on the role of chromosomal rearrangements in plant population differentiation and lineage diversification resulting in speciation, helping bridge the gap between macro- and microevolution through chromosomal evolution. We focus on angiosperms, a group that comprises the majority of extant plant species diversity and exhibits the largest chromosomal and genomic variations.
View Article and Find Full Text PDFACS Omega
September 2025
Genetics and Cellular Biology Laboratory, Center for Biodiversity Studies, Federal University of Pará, Belém 66075-110, Pará, Brazil.
Histone genes contain sequences responsible for coding five types of proteins (H1, H2A, H2B, H3, and H4) that are of great importance for chromatin organization. Their transcriptional regulation through DNA methylation has been little studied. Testudines are ancient reptiles with high cytogenetic diversity (2 = 26-68), with a large number of histone gene loci in their karyotype.
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