Abstract

Retrotransposons account for almost half of our genome. They are mobile genetics elements—also known as jumping genes—but only the L1HS subfamily of Long Interspersed Nuclear Elements (LINEs) has retained the ability to jump autonomously in modern humans. Their mobilization in germline—but also some somatic tissues—contributes to human genetic diversity and to diseases, such as cancer. Here, we present euL1db, the European database of L1HS retrotransposon insertions in humans (available at http://euL1db.unice.fr). euL1db provides a curated and comprehensive summary of L1HS insertion polymorphisms identified in healthy or pathological human samples and published in peer-reviewed journals. A key feature of euL1db is its sample-wise organization. Hence L1HS insertion polymorphisms are connected to samples, individuals, families and clinical conditions. The current version of euL1db centralizes results obtained in 32 studies. It contains >900 samples, >140 000 sample-wise insertions and almost 9000 distinct merged insertions. euL1db will help understanding the link between L1 retrotransposon insertion polymorphisms and phenotype or disease.

Highlights

  • Repetitive DNA accounts for half of our genome

  • Interspersed Nuclear Element-1 or Long Interspersed Nuclear Elements (LINEs)-1) clade of nonLong Terminal Repeat (LTR) retrotransposons found in vertebrates, plants and fungi

  • The L1 retrotransposon machinery is able to mobilize in trans non-autonomous retrotransposons belonging to the Short Interspersed Nuclear Element (SINE) class (Alu, SVA); or cellular RNAs (U6, mRNA), which results in processed pseudogene formation (see [2,3,4] for recent reviews)

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Summary

Introduction

Repetitive DNA accounts for half of our genome. Most of these repeats are retrotransposons, i.e. mobile genetic elements, which proliferate through an RNA-mediated copyand-paste mechanism, called retrotransposition. The ‘Sample’ table describes the primary biological sample taken from a given individual and from which L1HS insertions were cataloged and mapped. Nucleic Acids Research, 2015, Vol 43, Database issue D45 als from the 1000 Genomes Project are not linked to any sample.

Results
Conclusion

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