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Related Experiment Videos

A long interspersed (LINE) DNA exhibiting polymorphic patterns in human genomes.

P R Musich, R J Dykes

    Proceedings of the National Academy of Sciences of the United States of America
    |July 1, 1986
    PubMed
    Summary

    A newly discovered human DNA sequence family, L2Hs, shows significant variation in abundance and structure across individuals and primate species. This finding sheds light on recent primate evolution and genetic diversity.

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    Gene·1993

    Area of Science:

    • Genetics
    • Molecular Biology
    • Evolutionary Biology

    Background:

    • Human DNA contains repetitive sequences that play roles in genome structure and evolution.
    • Long interspersed nuclear elements (LINEs) are a major class of repetitive DNA with dynamic genomic behavior.

    Purpose of the Study:

    • To characterize a novel repetitive DNA sequence family in the human genome.
    • To investigate the evolutionary emergence and population-level variation of this new sequence family.

    Main Methods:

    • Digestion of human DNA with Kpn I restriction endonuclease.
    • Isolation and cloning of a 0.6-kilobase (kb) DNA segment (N6.4).
    • Hybridization analysis using the cloned segment to probe genomic DNA from humans and other primates.

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    Main Results:

    • Identification of a previously undescribed, moderately repetitive long interspersed nuclear element (LINE) family, termed L2Hs.
    • L2Hs sequences exhibit significant quantitative and qualitative polymorphisms within the human population, with a 5-fold variation in content.
    • Homologous sequences are present in lower amounts in gorilla, chimpanzee, and other primate DNA, suggesting recent emergence in primate evolution.

    Conclusions:

    • The L2Hs family represents a recently evolved, moderately repetitive DNA sequence in primates.
    • Observed polymorphisms in L2Hs may reflect ongoing genomic rearrangements, amplifications, and deletions in humans.
    • This discovery contributes to understanding genetic diversity and evolutionary dynamics in primates.