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A typical L1 element is approximately 6, base pairs bp long and consists of two non-overlapping open reading frames ORF which are flanked by untranslated regions UTR and target site duplications.

The 5' UTR of mouse L1s contain a variable number of GC-rich tandemly repeated monomers of around bp, followed by a short non-monomeric region.

The first ORF encode a amino acid - 40 kDa protein that lacks homology with any protein of known function. In vertebrates, it contains a conserved C-terminus domain and a highly variable coiled-coil N-terminus that mediates the formation of ORF1 trimeric complexes.

ORF1 trimers have RNA-binding and nucleic acid chaperone activity that are necessary for retrotransposition. The second ORF of L1 encodes a protein that has endonuclease and reverse transcriptase activity.

The encoded protein has a molecular weight of kDA. L1 activity has been observed in numerous types of cancers , with particularly extensive insertions found in colorectal and lung cancers.

However, at least two cases have found somatic L1 insertions causative of cancer by disrupting the coding sequences of genes APC and PTEN in colon and endometrial cancer, respectively.

Quantification of L1 copy number by qPCR or L1 methylation levels with bisulfite sequencing are used as diagnostic biomarkers in some types of cancers.

L1 hypomethylation of colon tumor samples is correlated with cancer stage progression. Higher L1 copy numbers have been observed in the human brain compared to other organs.

Increased RNA levels of Alu, which requires L1 proteins, are associated with a form of age-related macular degeneration , a neurological disorder of the eyes.

The naturally occurring mouse retinal degeneration model rd7 is caused by an L1 insertion in the Nr2e3 gene. From Wikipedia, the free encyclopedia.

Long interspersed nuclear element. Bibcode : Natur. Annual Review of Genetics. Nature Reviews. Mobile DNA. The New England Journal of Medicine.

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