LINE1

LINE1 (an abbreviation of Long interspersed nuclear element-1, also known as L1 and LINE-1) is a family of related class I transposable elements in the DNA of many groups of eukaryotes, including animals and plants, classified with the long interspersed nuclear elements (LINEs). L1 transposons are most ubiquitous in mammals, where they make up a significant fraction of the total genome length, for example they comprise approximately 17% of the human genome. These active L1s can interrupt the genome through insertions, deletions, rearrangements, and copy number variations. L1 activity has contributed to the instability and evolution of genomes and is tightly regulated in the germline by DNA methylation, histone modifications, and piRNA. L1s can further impact genome variation through mispairing and unequal crossing over during meiosis due to its repetitive DNA sequences.

L1 gene products are also required by many non-autonomous Alu and SVA SINE retrotransposons. Mutations induced by L1 and its non-autonomous counterparts have been found to cause a variety of heritable and somatic diseases.

In 2011, human L1 was reportedly discovered in the genome of the gonorrhea bacteria, evidently having arrived there by horizontal gene transfer.