LINE1 (also L1 and LINE-1) is a family of related class I transposable elements in the DNA of some organisms, classified with the long interspersed elements (LINEs). L1 transposons comprise approximately 17% of the human genome.[1] These active L1s can interrupt the genome through insertions, deletions, rearrangements, and copy number variations.[2] 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.[3] L1s can further impact genome variation through mispairing and unequal crossing over during meiosis due to its repetitive DNA sequences.[2]
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.[4][5]
In 2011, human L1 was reportedly discovered in the genome of the gonorrhea bacteria, evidently having arrived there by horizontal gene transfer.[6][7]
- ^ Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, et al. (International Human Genome Sequencing Consortium) (February 2001). "Initial sequencing and analysis of the human genome". Nature. 409 (6822): 860–921. Bibcode:2001Natur.409..860L. doi:10.1038/35057062. hdl:2027.42/62798. PMID 11237011.
- ^ a b Kazazian HH, Moran JV (July 2017). "Mobile DNA in Health and Disease". The New England Journal of Medicine. 377 (4): 361–370. doi:10.1056/NEJMra1510092. PMC 5980640. PMID 28745987.
- ^ Wang PJ (July 2017). "Tracking LINE1 retrotransposition in the germline". Proceedings of the National Academy of Sciences of the United States of America. 114 (28): 7194–7196. Bibcode:2017PNAS..114.7194W. doi:10.1073/pnas.1709067114. PMC 5514774. PMID 28663337.
- ^ Beck CR, Garcia-Perez JL, Badge RM, Moran JV (2011). "LINE-1 elements in structural variation and disease". Annual Review of Genomics and Human Genetics. 12 (1): 187–215. doi:10.1146/annurev-genom-082509-141802. PMC 4124830. PMID 21801021.
- ^ Wimmer K, Callens T, Wernstedt A, Messiaen L (November 2011). "The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion". PLOS Genetics. 7 (11): e1002371. doi:10.1371/journal.pgen.1002371. PMC 3219598. PMID 22125493.
- ^ Yong E (2011-02-16). "Gonorrhea has picked up human DNA (and that's just the beginning)". National Geographic. Archived from the original on December 5, 2019. Retrieved 2016-07-14.
- ^ Anderson MT, Seifert HS (2011). "Opportunity and means: horizontal gene transfer from the human host to a bacterial pathogen". mBio. 2 (1): e00005-11. doi:10.1128/mBio.00005-11. PMC 3042738. PMID 21325040.