Mobile elements within genomes have driven genome evolution in diverse ways. Particularly
in plants and mammals, retrotransposons have accumulated to constitute a large fraction of …

Human L1 elements are highly abundant poly(A) (non-LTR) retrotransposons whose second
open reading frame (ORF2) encodes a reverse transcriptase (RT). We have identified an …

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 …

We previously isolated two human L1 elements (L1.2 and LRE2) as the progenitors of
disease-producing insertions. Here, we show these elements can actively retrotranspose in …

Mutations in the factor VIII gene have been discovered for barely more than half of the examined
cases of severe haemophilia A. To account for the unidentified mutations, we propose a …

L1 sequences are a human-specific family of long, interspersed, repetitive elements, present
as ∼10 5 copies dispersed throughout the genome 1 . The full-length L1 sequence is 6.1 …

Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in
cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene …

▪ Abstract L1 retrotransposons comprise 17% of the human genome. Although most L1s are
inactive, some elements remain capable of retrotransposition. L1 elements have a long …

L1 elements are highly repeated mammalian DNA sequences whose structure suggests
dispersal by retrotransposition. A consensus L1 element encodes a protein with sequence …

Long interspersed nuclear elements (LINE-1s or L1s) are the most abundant retrotransposons
in the human genome, and they serve as major sources of reverse transcriptase activity. …