Alu sequences carry periodical pattern with CG dinucleotides (CpG) repeating every 31-32 bases. Similar distances are observed in distribution of DNA curvature in crystallized nucleosomes, at positions +/-1.5 and +/-4.5 periods of DNA from nucleosome DNA dyad. Since CG elements are also found to impart to nucleosomes higher stability when positioned at +/-1.5 sites, it suggests that CG dinucleotides may play a role in modulation of the nucleosome strength when the CG elements are methylated. Thus, Alu sequences may harbor special epigenetic nucleosomes with methylation-dependent regulatory functions. Nucleosome DNA sequence probe is suggested to detect locations of such regulatory nucleosomes in the sequences.
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http://dx.doi.org/10.1080/07391102.2008.10507219 | DOI Listing |
J Clin Lipidol
December 2024
Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India; Apollo Genomics Institute, Indraprastha Apollo Hospital, New Delhi, 110076, India. Electronic address:
Background: Homozygous familial hypercholesterolemia (HoFH) is a severe form of familial hypercholesterolemia (FH), characterized by high low-density lipoprotein cholesterol (LDL-C) levels and increased coronary artery disease risk. This study reports a novel Alu insertion in the LDLR gene in a consanguineous Indian family, causing FH.
Objective: To identify and characterize the mutation causing HoFH in a proband and their family members.
Comput Struct Biotechnol J
December 2024
Institute for Personalized Medicine, Department of Biochemistry and Molecular Biology, The Pennsylvania State University College of Medicine, Hershey, PA, USA.
Nullomers are short DNA sequences (11-18 base pairs) that are absent from a genome; however, they can emerge due to mutations. Here, we characterize all possible putative human nullomer-emerging single base pair mutations, population variants and disease-causing mutations. We find that the primary determinants of nullomer emergence in the human genome are the presence of CpG dinucleotides and methylated cytosines.
View Article and Find Full Text PDFGenetics
January 2025
Institute for Evolution and Biodiversity, University of Münster, Münster 48149, Germany.
Transposable elements are DNA sequences that can move and replicate within genomes. Broadly, there are 2 types: autonomous elements, which encode the necessary enzymes for transposition, and nonautonomous elements, which rely on the enzymes produced by autonomous elements for their transposition. Nonautonomous elements have been proposed to regulate the numbers of transposable elements, which is a possible explanation for the persistence of transposition activity over long evolutionary times.
View Article and Find Full Text PDFJ Diabetes Investig
January 2025
Department of Medical Sciences, Shahid Beheshti University, Tehran, Iran.
Aims: This study aimed to delineate the effect of hyperglycemia on the Alu/LINE-1 hypomethylation and in ERK1/2 genes expression in type 2 diabetes with and without cataract.
Methods: This study included 58 diabetic patients without cataracts, 50 diabetic patients with cataracts, and 36 healthy controls. After DNA extraction and bisulfite treatment, LINE-1 and Alu methylation levels were assessed using Real-time MSP.
Nat Commun
January 2025
Technion-Israel Institute of Technology, Faculty of Biology, Emerson building, Haifa, Israel.
Long non-coding RNAs (lncRNAs) are pivotal regulators of cellular processes. Here we reveal an interaction between the lncRNA NORAD, noted for its role in DNA stability, and the immune related transcription factor STAT3 in embryonic and differentiated human cells. Results from NORAD knockdown experiments implicate NORAD in facilitating STAT3 nuclear localization and suppressing antiviral gene activation.
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