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Updated: Feb 5, 2026

Supervised Machine Learning for Semi-Quantification of Extracellular DNA in Glomerulonephritis
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EXTRA-CELLULAR DNA FOR THE UNSOLVED EVOLUTIONAL PROBLEMS.

O I Podgornaya

    Tsitologiia
    |September 7, 2018
    PubMed
    Summary

    New sequencing methods reveal insights into extracellular DNA (ecDNA) and its repetitive sequences. This study highlights how repetitive element substitution, not just gene mutations, drives evolution and may explain mammalian reproductive strategies.

    Area of Science:

    • Genomics and Evolutionary Biology
    • Molecular Genetics
    • Bioinformatics

    Background:

    • Genome assembly and sequencing advancements illuminate the role of extracellular DNA (ecDNA).
    • Understanding the distribution and function of repetitive DNA elements is crucial for evolutionary insights.
    • Previous research has established sperm-mediated gene transfer as a common veterinary practice.

    Purpose of the Study:

    • To describe recent data on ecDNA content and uptake.
    • To analyze the asymmetric distribution of repetitive sequences within ecDNA.
    • To explore the implications of repetitive element substitution for evolutionary theory.

    Main Methods:

    • Analysis of genome assembly and new sequencing data.
    • Bioinformatic analysis of repetitive sequence distribution (tandem repeats, alpha-satellite, SINEs, LINEs).

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  • Cytological data, including Fluorescence In Situ Hybridization (FISH), to examine repeat locations.
  • Comparative genomics to assess gene expression and repeat element evolution between species.

    • Main Results:

    • Demonstrated asymmetric distribution of repetitive sequences in ecDNA, with enrichment in pericentromeric tandem repeats and Alu (SINEs), but a decrease in centromeric alpha-satellite and LINEs.
    • Alu repeats (SINEs) are predominantly found in gene-rich regions, while LINEs are enriched in facultative heterochromatin.
    • Human tissues exhibit a higher proportion of tissue-specific genes and greater expression ratios compared to housekeeping genes, correlating with a substitution of mouse SINEs by Alu (SINEs).
    • Sequence similarity between Alu elements and mouse B1 (SINE) facilitates recombination and potential substitution of ecDNA SINEs.
    • Changes in chromatin landscape, driven by repetitive element substitution, can enhance transcription and provide evolutionary advantages.

    Conclusions:

    • Repetitive element substitution, particularly involving Alu elements, can drive progressive evolution, challenging the necessity of gene mutations alone.
    • The proposed mechanism offers a potential explanation for altered litter sizes and the possibility of inbred mating in ancient mammals via ecDNA.
    • This framework may resolve contradictions within the Modern Evolutionary Synthesis theory regarding the drivers of evolution and mammalian reproduction.