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Three-dimensional genome architecture in intrahepatic cholangiocarcinoma.
Cell Oncol (Dordr)
January 2025
College of Life Science and Technology, Innovation Center of Molecular Diagnostics, Beijing University of Chemical Technology, Beijing, 100029, China.
Purpose: Intrahepatic cholangiocarcinoma (ICC) is a common primary hepatic tumors with a 5-year survival rate of less than 20%. Therefore, it is crucial to elucidate the molecular mechanisms of ICC. Recently, the advance of high-throughput chromosome conformation capture (Hi-C) technology help us look insight into the three-dimensional (3D) genome structure variation during tumorigenesis.
View Article and Find Full Text PDFscHiClassifier: a deep learning framework for cell type prediction by fusing multiple feature sets from single-cell Hi-C data.
Brief Bioinform
November 2024
School of Software, Shandong University, No. 1500, Shunhua Road, Hi-Tech Industrial Development Zone, Jinan 250100, Shandong, China.
Single-cell high-throughput chromosome conformation capture (Hi-C) technology enables capturing chromosomal spatial structure information at the cellular level. However, to effectively investigate changes in chromosomal structure across different cell types, there is a requisite for methods that can identify cell types utilizing single-cell Hi-C data. Current frameworks for cell type prediction based on single-cell Hi-C data are limited, often struggling with features interpretability and biological significance, and lacking convincing and robust classification performance validation.
View Article and Find Full Text PDFThe six subunit Origin Recognition Complex (ORC) is a DNA replication initiator that also promotes heterochromatinization in some species. A multi-omics study in a human cell line with mutations in three subunits of ORC, reveals that the subunits bind to DNA independent of each other rather than as part of a common six-subunit ORC. While DNA-bound ORC2 was seen to compact chromatin and attract repressive histone marks, the activation of chromatin and protection from repressive marks was seen at a large number of sites.
View Article and Find Full Text PDFFunctionally-informed fine-mapping identifies genetic variants linking increased CHD1L expression and HIV restriction in monocytes.
Sci Rep
January 2025
Sexually Transmitted and Bloodborne Infections Surveillance and Molecular Epidemiology, Sexually Transmitted and Bloodborne Infections Division at the JC Wilt Infectious Diseases Research Centre, National Microbiology Laboratories, Public Health Agency of Canada, Winnipeg, MB, R3E 3L5, Canada.
Human Immunodeficiency Virus Type 1 (HIV) set-point viral load is a strong predictor of disease progression and transmission risk. A recent genome-wide association study in individuals of African ancestries identified a region on chromosome 1 significantly associated with decreased HIV set-point viral load. Knockout of the closest gene, CHD1L, enhanced HIV replication in vitro in myeloid cells.
View Article and Find Full Text PDFNKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit.
Nat Commun
January 2025
State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, China.
Transcription elongation, especially RNA polymerase II (Pol II) pause-release, is less studied than transcription initiation in regulating gene expression during meiosis. It is also unclear how transcription elongation interplays with transcription initiation. Here, we show that depletion of NKAPL, a testis-specific protein distantly related to RNA splicing factors, causes male infertility in mice by blocking the meiotic exit and downregulating haploid genes.
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