Hot L1s account for the bulk of retrotransposition in the human population

By B. Brouha, Joshua Schustak, Richard Badge, Sheila Lutz-Prigge, A. Farley, J. V. Moran, Haig H. Kazazian. Proceedings of the National Academy of Sciences of the United States of America, 2003

1,058 citations recorded by the source corpus.

Subfields: Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/f17de192b2a4d4230702b07986d7a15caf08df40

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Citations in the corpus

Environmental Influence on L1 Retrotransposons in the Adult Hippocampus (2009, background): “In contrast, the average human genome is estimated to contain 100 retrotransposition-competent L1s, and ∼10% of these elements are classified as highly active or “hot” (Brouha et al., 2003).”
Haplotype-resolved diverse human genomes and integrated analysis of structural variation (2021, background): “Of these sequences, 23% show evidence of activity because they are part of a database of 198 FL-L1s that are active in vitro (31, 32), in human populations (33), and in cancers (34–36).”
The impact of retrotransposons on human genome evolution (2009, neutral): “Of the >500,000 L1 elements in the human genome, less than 100 copies are functiona”
Retrotransposons revisited: the restraint and rehabilitation of parasites. (2008, positive): “Brouha et al. (2003) determined that 44% of young intact L1s were polymorphic for presence in the genome and that about half of these were capable of retrotransposition in cell culture, predicting 80 to 100 potentially retrotranspositioncompetent L1s in the average diploid genome.”
From telomere to telomere: the transcriptional and epigenetic state of human repeat elements (2021, background): “As elements become inactivated through 5’ truncation (78, 79) and increased divergence, CpG content drops considerably.”
LINE-1 Elements in Structural Variation and Disease (2011, background): “The structure and mobility mechanism of retrotransposition-competent LINE-1s—RC-L1s are ~6 kb in length and contain a 5′ untranslated region (UTR), two ORFs, and a 3′ UTR that is punctuated by a poly(A) tail (208) (Figure 1).”