The sizes of nucleotide sequences of chromosomes 21 and 22 of the human genome established in three independent laboratories were compared with the sizes expected from the accurately determined contribution of these chromosomes to the genome mass. It was found that the expected haploid mass of the genome is about twofold smaller than the lowest of the figures published. This strongly contradicts the current notions about the genome size. With the bineme model of chromosome, the expected overall length of the human genome is close to 2100 Mbp and the haploid mass is close to 4200 Mbp. According to the calculations performed, the bineme chromosome structure enhances the reliability of the genome about 1.6 x 10(8)-fold (the computations are given in the paper).
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.
Genome Med
January 2025
Laboratory of Cytogenetics and Genome Research, Centre for Human Genetics, KU Leuven, Leuven, 3000, Belgium.
Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
View Article and Find Full Text PDFIRE1α-XBP1 safeguards hematopoietic stem and progenitor cells by restricting pro-leukemogenic gene programs.
Nat Immunol
January 2025
Experimental Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Hematopoietic stem cells must mitigate myriad stressors throughout their lifetime to ensure normal blood cell generation. Here, we uncover unfolded protein response stress sensor inositol-requiring enzyme-1α (IRE1α) signaling in hematopoietic stem and progenitor cells (HSPCs) as a safeguard against myeloid leukemogenesis. Activated in part by an NADPH oxidase-2 mechanism, IRE1α-induced X-box binding protein-1 (XBP1) mediated repression of pro-leukemogenic programs exemplified by the Wnt-β-catenin pathway.
View Article and Find Full Text PDFShort-chain fatty acid metabolites propionate and butyrate are unique epigenetic regulatory elements linking diet, metabolism and gene expression.
Nat Metab
January 2025
Department of Genetics, Stanford University, School of Medicine, Stanford, CA, USA.
The short-chain fatty acids (SCFAs) propionate and butyrate have beneficial health effects, are produced in large amounts by microbial metabolism and have been identified as unique acyl lysine histone marks. To better understand the function of these modifications, we used chromatin immunoprecipitation followed by sequencing to map the genome-wide location of four short-chain acyl histone marks, H3K18pr, H3K18bu, H4K12pr and H4K12bu, in treated and untreated colorectal cancer (CRC) and normal cells as well as in mouse intestines in vivo. We correlate these marks with open chromatin regions and gene expression to access the function of the target regions.
View Article and Find Full Text PDFA scalable variational inference approach for increased mixed-model association power.
Nat Genet
January 2025
Department of Statistics, University of Oxford, Oxford, UK.
The rapid growth of modern biobanks is creating new opportunities for large-scale genome-wide association studies (GWASs) and the analysis of complex traits. However, performing GWASs on millions of samples often leads to trade-offs between computational efficiency and statistical power, reducing the benefits of large-scale data collection efforts. We developed Quickdraws, a method that increases association power in quantitative and binary traits without sacrificing computational efficiency, leveraging a spike-and-slab prior on variant effects, stochastic variational inference and graphics processing unit acceleration.
View Article and Find Full Text PDFWhole Genome Sequence Analysis of Terbinafine Resistant and Susceptible Trichophyton Isolates from Human and Animal Origin.
Mycopathologia
January 2025
Department of Medical Microbiology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Trichophyton indotineae, first identified in India, has increasingly been reported in Asia, the Middle East, Europe, and recently in the USA. The global spread of terbinafine-resistant T. indotineae underscores the urgency of the issue.
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!