The human genome is subject to substantial structural variation, including copy number variation (CNV). Constitutional CNVs may either represent benign polymorphic variants or be associated with disease, including cancer predisposition. Rare nonpolymorphic CNVs, that is DNA lesions that result in gene deletions, inversions, and/or fusions, may be responsible for a high cancer risk. In addition, we previously elucidated a mechanism by which CNV-based transcriptional read-through mediates inactivation of a neighboring gene through in cis hypermethylation of its promoter. This novel mechanism explains the etiology of a recurrent and strongly inherited tissue-restricted epimutation. Recently, we obtained supporting evidence for such a CNV-associated scenario, suggesting that it may be more prevalent than previously thought. We expect that copy number profiling in unexplained high-risk families will lead to the discovery of additional cancer-predisposing genes and/or mechanisms.
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http://dx.doi.org/10.1016/j.gde.2010.03.005 | DOI Listing |
Appl Environ Microbiol
March 2025
Food Science and Human Nutrition, University of Illinois Urbana-Champaign, Urbana, Illinois, USA.
Unlabelled: Insertion sequences (ISs) are key components of most bacterial genomes and play a crucial role in bacterial mutagenesis. In this study, we observed the insertion of an IS element, ISLrh, from the M1 genome into plasmid pGK12, resulting in the generation of a new plasmid, pTRK829. This insertion enabled pTRK829 to replicate in hosts previously incompatible with pGK12, including M1, GG (LGG), ATCC 393, and ATCC 25598.
View Article and Find Full Text PDFObstet Gynecol Res
January 2025
Center for Neural Development and Repair, Department of Neural Sciences, Lewis Katz School of Medicine at Temple University, Philadelphia, PA 19140, USA.
Introduction: Neuronal apoptosis and consequent inhibition of autophagy, with loss of synaptic connections are central events in the genesis of fetal alcohol spectrum disorders (FASD). However, studies of molecular mechanisms of autophagy in human fetal brain are limited. Recently, prenatal exposure to EtOH was associated with reduced miRNA-9 levels in fetal brain-derived exosomes (FB- Es) isolated from maternal plasma, which correlated with small eyes, an anatomical hallmark of fetal alcohol syndrome (FAS).
View Article and Find Full Text PDFBio Protoc
March 2025
Molecular Breeding and Biodiversity Group, Department of Genetics, Stellenbosch University, Stellenbosch, Western Cape, South Africa.
Mitochondrial genomes (mitogenomes) display relatively rapid mutation rates, low sequence recombination, high copy numbers, and maternal inheritance patterns, rendering them valuable blueprints for mapping lineages, uncovering historical migration patterns, understanding intraspecific population dynamics, and investigating how environmental pressures shape traits underpinned by genetic variation. Here, we present the bioinformatic pipeline and code used to assemble and annotate the complete mitogenomes of five houndsharks (Chondrichthyes: Triakidae) and compare them to the mitogenomes of other closely related species. We demonstrate the value of a combined assembly approach for detecting deviations in mitogenome structure and describe how to select an assembly approach that best suits the sequencing data.
View Article and Find Full Text PDFInt J Psychiatry Clin Pract
March 2025
Department of Psychiatry, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Objective: Mitochondria are essential for energy production and reactive oxygen species (ROS) generation, with changes in ROS levels or energy demands affecting mitochondrial DNA (mtDNA) copy numbers, indicating mitochondrial function. Early life adversity (ELA) affects mitochondrial dynamics, influencing long-term health. Both ELA and mitochondrial abnormalities have been independently associated with bipolar disorder (BD).
View Article and Find Full Text PDFBMC Nephrol
March 2025
Department of Nephrology, Hiroshima University Hospital, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
Background: Peritoneal dialysis (PD)-associated peritonitis is linked to an increased risk of mortality and catheter removal, with a higher incidence of these risks observed in polymicrobial peritonitis compared with single-organism infection. In PD patients, invasive procedures can cause peritonitis, typically within 7 days, through transient bacteremia. Although dental procedures are widely recognized as a cause of transient bacteremia, only a limited number of cases involving PD-associated peritonitis after dental procedures, and no cases of polymicrobial peritonitis, have been reported.
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