Article
Hot L1s account for the bulk of retrotransposition in the human population.
Proceedings of the National Academy of Sciences of the United States of America - 29 Apr 2003
Brouha Brook, Schustak Joshua, Badge Richard M, Lutz-Prigge Sheila, Farley Alexander H, Moran John V, Kazazian Haig H
Abstract excerpt
Although LINE-1 (long interspersed nucleotide element-1, L1) retrotransposons comprise 17% of the human genome, an exhaustive search of the December 2001 "freeze" 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...
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