The aim of the study is to estimate human cytomegalovirus DNA copy number in different compartments (BAL cells, blood leukocytes, serum) in patients with idiopathic pulmonary fibrosis (IPF). There were 16 patients (mean age 40.87 +/-10.97; 9 males, 7 females) with newly diagnosed and so far not treated IPF included in the study. The diagnosis of IPF was confirmed by typical HRCT findings and/or lung biopsy histopathological examination (result of the biopsy: "usual interstitial pneumonia"). There were also 16 adult volunteers (mean age 36.75 +/- 6.43; 12 males, 4 females) included in the study as a control group. Using the real-time quantitative polymerase chain reaction the HCMV DNA copy number was estimated. The prevalence of HCMV DNA positive subjects in the IPF group (75%) was higher, but did not differ significantly from the control group (69%). The HCMV DNA copy number in 1 million BAL cells was significantly higher comparing to blood leukocytes, both in IPF and control group (log10 = 2.7 vs. 1.2 for IPF and 2.8 vs. 0.9 for control, respectively). Higher mean HCMV DNA copy number was observed in IPF patients comparing to control group (log10 = 3.2 for IPF and 2.0 for control) in 1 mL of blood serum. We concluded that the lungs play an important role in human cytomegalovirus latency and infection reactivation and thus could be a cofactor modulating the course of IPF in humans. The contribution of HCMV infection in IPF patients should be taken into account during immunosuppression therapy planning.
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Diagnosis (Berl)
January 2025
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Objectives: This study reported a large cohort of fetal blood analysis of various hemoglobinopathies.
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Nucleic Acids Res
January 2025
Laboratory of Genome Regeneration, Institute for Quantitative Biosciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo113-0032, Japan.
DNA copy number changes via chromosomal rearrangements or the production of extrachromosomal circular DNA. Here, we demonstrate that the histone deacetylase Sir2 maintains the copy number of budding yeast ribosomal RNA gene [ribosomal DNA (rDNA)] by suppressing end resection of DNA double-strand breaks (DSBs) formed upon DNA replication fork arrest in the rDNA and their subsequent homologous recombination (HR)-mediated rDNA copy number changes during DSB repair. Sir2 represses transcription from the regulatory promoter E-pro located near the fork arresting site.
View Article and Find Full Text PDFBMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Nat Rev Cancer
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Translational Oncogenomics Laboratory, Cancer Research UK Manchester Institute, University of Manchester, Manchester, UK.
Intratumour hypoxia is a feature of all heterogenous solid tumours. Increased levels or subregions of tumour hypoxia are associated with an adverse clinical prognosis, particularly when this co-occurs with genomic instability. Experimental evidence points to the acquisition of DNA and chromosomal alterations in proliferating hypoxic cells secondary to inhibition of DNA repair pathways such as homologous recombination, base excision repair and mismatch repair.
View Article and Find Full Text PDFExtremophiles
January 2025
Microbiology Laboratory, Department of Botany (DST-FIST and UGC-DRS Funded), Institute of Science, Visva-Bharati (A Central University), Santiniketan, West Bengal, 731235, India.
To fish-out novel salt-tolerance genes, metagenomic DNA of moderately saline sediments of India's largest hypersaline Sambhar Lake was cloned in fosmid. Two functionally-picked clones helped the Escherichia coli host to tolerate 0.6 M NaCl.
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