{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T19:03:11Z","timestamp":1775070191914,"version":"3.50.1"},"reference-count":41,"publisher":"Proceedings of the National Academy of Sciences","issue":"9","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2003,4,29]]},"abstract":"<jats:p>Although LINE-1 (long interspersed nucleotide element-1, L1) retrotransposons comprise 17% of the human genome, an exhaustive search of the December 2001 \u201cfreeze\u201d of the haploid human genome working draft sequence (95% complete) yielded only 90 L1s with intact ORFs. We demonstrate that 38 of 86 (44%) L1s are polymorphic as to their presence in human populations. We cloned 82 (91%) of the 90 L1s and found that 40 of the 82 (49%) are active in a cultured cell retrotransposition assay. From these data, we predict that there are 80\u2013100 retrotransposition-competent L1s in an average human being. Remarkably, 84% of assayed retrotransposition capability was present in six highly active L1s (hot L1s). By comparison, four of five full-length L1s involved in recent human insertions had retrotransposition activity comparable to the six hot L1s in the human genome working draft sequence. Thus, our data indicate that most L1 retrotransposition in the human population stems from hot L1s, with the remaining elements playing a lesser role in genome plasticity.<\/jats:p>","DOI":"10.1073\/pnas.0831042100","type":"journal-article","created":{"date-parts":[[2003,4,29]],"date-time":"2003-04-29T16:23:56Z","timestamp":1051633436000},"page":"5280-5285","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":940,"title":["Hot L1s account for the bulk of retrotransposition in the human population"],"prefix":"10.1073","volume":"100","author":[{"given":"Brook","family":"Brouha","sequence":"first","affiliation":[{"name":"Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104; Departments of Human Genetics and Internal Medicine, University of Michigan Medical School, Ann Arbor, MI 48109; and Department of Genetics, University of Leicester, Leicester LE1-RH, United 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