L1 (LINE-1) retrotransposon evolution and amplification in recent human history

Stephane Boissinot, Pascale Chevret, Anthony V. Furano

    Research output: Contribution to journalArticle

    Abstract

    L1 (LINE-1) elements constitute a large family of mammalian retrotransposons that have been replicating and evolving in mammals for more than 100 Myr and now compose 20% or more of the DNA of some mammals. Here, we investigated the evolutionary dynamics of the active human Ta L1 family and found that it arose ~4 MYA and subsequently differentiated into two major subfamilies, Ta-0 and Ta-1, each of which contain additional subsets. Ta-1, which has not heretofore been described, is younger than Ta-0 and now accounts for at least 50% of the Ta family. Although Ta-0 contains some active elements, the Ta-1 subfamily has replaced it as the replicatively dominant subfamily in humans: 69% of the loci that contain Ta-1 inserts are polymorphic for the presence or absence of the insert in human populations, as compared with 29% of the loci that contain Ta-0 inserts. This value is 90% for loci that contain Ta-1d inserts, which are the youngest subset of Ta-1 and now account for about two thirds of the Ta-1 subfamily. The successive emergence and amplification of distinct Ta L1 subfamilies shows that L1 evolution has been as active in recent human history as it has been found to be for rodent L1 families. In addition, Ta-1 elements have been accumulating in humans at about the same rate per generation as recently evolved active rodent L1 subfamilies.

    Original languageEnglish (US)
    Pages (from-to)915-928
    Number of pages14
    JournalMolecular Biology and Evolution
    Volume17
    Issue number6
    DOIs
    StatePublished - Jan 1 2000

    Fingerprint

    Retroelements
    retrotransposons
    amplification
    History
    history
    rodent
    loci
    rodents
    mammal
    mammals
    Mammals
    Rodentia
    Long Interspersed Nucleotide Elements
    human population
    DNA
    family
    Population
    young

    Keywords

    • Evolution
    • Human
    • L1/LINE-1
    • Polymorphism
    • Retrotransposon

    ASJC Scopus subject areas

    • Ecology, Evolution, Behavior and Systematics
    • Molecular Biology
    • Genetics

    Cite this

    L1 (LINE-1) retrotransposon evolution and amplification in recent human history. / Boissinot, Stephane; Chevret, Pascale; Furano, Anthony V.

    In: Molecular Biology and Evolution, Vol. 17, No. 6, 01.01.2000, p. 915-928.

    Research output: Contribution to journalArticle

    Boissinot, Stephane ; Chevret, Pascale ; Furano, Anthony V. / L1 (LINE-1) retrotransposon evolution and amplification in recent human history. In: Molecular Biology and Evolution. 2000 ; Vol. 17, No. 6. pp. 915-928.
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