A complex study on various evolutionary peculiarities of the mammalia dispersed Alu repeats (Alu repeats of primates and B1 of rodents) has been carried out by phylogenetic analysis. A phylogenetic tree, containing the 7SL RNA genes and the Alu repeats of primates and rodents has been constructed. It has been shown that the branch of the phyletic line leading to the Alu repeats of primates and B1 of rodents from the 7SL RNA genes occurred after the divergence of the 7SL RNA genes of amphibia and mammalia, but before the divergence of the 7SL RNA genes of primates and rodents (250.10 years ago). A statistically reliable slowing down in the evolutionary rates of one of two monomers for the human Alu repeats has been proved. It may be caused by the functional load of the corresponding monomer in connection with the presence of a definit regulatory site in it.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Common tandem repeat variants associated with glaucoma risk in individuals of African ancestry.
medRxiv
February 2025
Penn Medicine Center for Genetics of Complex Disease, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA.
The contribution of common tandem repeats (TR) variants to common, complex disease remains unknown, especially in populations historically underrepresented in genetic research. We identified common TR variants associated with risk of primary open-angle glaucoma (POAG) in individuals of African ancestry. The POAG-associated TR variants were predominantly found at Alu poly(A) tail elements, regions, retinal development enhancers, and harbor binding sites of a POAG-associated transcription factor, LMX1B, suggesting a convergent mechanism of how common TR variation arises and contributes to POAG pathophysiology.
View Article and Find Full Text PDFIdentification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.
BMC Med Genomics
March 2025
Department of Genomic Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
Background: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SVs) within non-coding regions have not been previously reported.
Methods: We investigated two male siblings with severe neurodevelopmental disorders and spasticity, who had remained undiagnosed for over a decade and were negative from exome sequencing, utilizing long-read HiFi genome sequencing.
Characterization of challenging forensic DNA traces using advanced molecular technologies.
Int J Legal Med
March 2025
Commissariat À L'énergie Atomique Et Aux Énergies Alternatives (CEA), Centre National de Recherche en Génomique Humaine (CNRGH), 91000, Evry-Courcouronnes, France.
The majority of crime scenes contain DNA that is either present in small amounts or degraded, making it difficult to obtain usable DNA profiles using conventional technologies. The current standard for analyzing casework samples is the specific amplification of short tandem repeats (STR), which is limited by DNA quality and quantity. Since the goal of forensic science is to identify a suspect or victim regardless of trace quality, we evaluated three technological approaches to better characterize and exploit these traces: (i) ultra-sensitive pulse-field electrophoresis on a Femto Pulse System (FPS) to visualize DNA content, (ii) real-time quantitative PCR based on Alu repeats to quantify human DNA and analyze its integrity, and (iii) 16S ribosomal RNA gene (16S rRNA) amplicon sequencing to identify microbiota.
View Article and Find Full Text PDFA recombinant protein vaccine induces protective immunity against SARS-CoV-2 JN.1 and XBB-lineage subvariants.
Signal Transduct Target Ther
February 2025
Laboratory of Aging Research and Cancer Drug Target, State Key Laboratory of Biotherapy and Cancer Center, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
The emergence of XBB- and JN.1-lineages with remarkable immune evasion characteristics have led to rises in breakthrough infections within populations. In addition, the unfavorable impacts of immune imprinting, stemming from continuous exposure to antigens from circulated viruses, have been observed to incline immune response against earlier lineages, thereby declining the neutralization to newly emerged Omicron subvariants.
View Article and Find Full Text PDFintronic expansion identified by poly-glycine-arginine pathology increases Alzheimer's disease risk.
Proc Natl Acad Sci U S A
February 2025
Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610.
Alzheimer's disease (AD) affects more than 10% of the population ≥65 y of age, but the underlying biological risks of most AD cases are unclear. We show anti-poly-glycine-arginine (a-polyGR) positive aggregates frequently accumulate in sporadic AD autopsy brains (45/80 cases). We hypothesize that these aggregates are caused by one or more polyGR-encoding repeat expansion mutations.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!