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Identifying structural variants (SVs) remains a pivotal challenge within genomic studies. The recent advent of chromosome conformation capture (3C) techniques has emerged as a promising avenue for the accurate identification of SVs. However, development and validation of computational methods leveraging 3C data necessitate comprehensive datasets of well-characterized chromosomal rearrangements, which are presently lacking. In this study, we introduce Charm (https://github.com/genomech/Charm): a robust computational framework tailored for Hi-C data simulation. Our findings demonstrate Charm's efficacy in benchmarking both novel and established tools for SV detection. Additionally, we furnish an extensive dataset of simulated Hi-C maps, paving the way for subsequent benchmarking endeavors.
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http://dx.doi.org/10.1093/nargab/lqaf081 | DOI Listing |
Protoplasma
September 2025
Vavilov Institute of General Genetics RAS, Moscow, Russia.
Large interstitial telomeric regions are considered remnants and markers of chromosomal rearrangements or a result of several suggested molecular mechanisms of telomere repeats accumulation. More rare are cases when large interstitial repeats are found not close to, but at a distance from the centromere. However, synapsis, recombination, and effects on chromatin near these regions during meiotic prophase I have not been sufficiently studied.
View Article and Find Full Text PDFBiochemistry
September 2025
Department of Molecular Nutrition, CSIR-Central Food Technological Research Institute (CFTRI), Mysuru, Karnataka 570020, India.
Chromosome organization and segregation are fundamental processes across all domains of life. In bacteria, the mechanisms governing nucleoid organization remain poorly understood. This study investigates the function of an alternative structural maintenance of chromosomes (SMC) complex, MksBEF, in .
View Article and Find Full Text PDFExp Hematol
September 2025
Tsuruoka Metabolomics Laboratory, National Cancer Center, Tsuruoka, Yamagata 997-0052, Japan. Electronic address:
Gene rearrangements of the human MLL gene (also known as KMT2A) generate multiple fusion oncoproteins which cause leukemia with poor prognosis. MLL is an epigenetic regulator that reads and writes epigenetic information and has an evolutionarily conserved role maintaining expression of Homeotic (HOX) genes during embryonic development. Most MLL gene rearrangements found in leukemia generate a constitutively active version of the wild-type protein, which causes overexpression of HOX and other genes and leukemic transformation of normal hematopoietic progenitors.
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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