CE12 - Génétique, génomique et ARN

Activities and diversity of natural L1 retrotransposon copies in human genomes – ActiveLINE

Submission summary

L1 retrotransposon sequences form 20% of the human genome, and L1 mobilization drives germline and somatic genome mutations in health, aging and disease. Only one L1 subfamily, L1HS, is functional in humans, and only a few L1HS loci are active in each cell-type. Two hypotheses can explain locus- and cell-type-dependent activity: i) sequence variation within each L1 copy; ii) regulation by the genomic position. Here, we will systematically test these hypotheses in 12 human cell lines from distinct individuals and tissues. We will use massively parallel assays to measure the intrinsic transcriptional and mobilization capabilities of each L1HS copy, including those absent from the reference genome. In parallel, we will evaluate how the genomic context can repress or activate L1s, by perturbing repressive chromatin and by systematically deleting putative enhancers near active copies. Together, these studies will extend our knowledge of a potent endogenous mutagen of the human genome.

Project coordination

Gael CRISTOFARI (Institut de Recherche sur le Cancer et le Vieillissement, Nice)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.


IRCAN Institut de Recherche sur le Cancer et le Vieillissement, Nice
IRCAN Institut de Recherche sur le Cancer et le Vieillissement, Nice

Help of the ANR 592,384 euros
Beginning and duration of the scientific project: February 2022 - 48 Months

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