TY - JOUR
T1 - Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells
AU - Kimberland, Michelle L.
AU - Divoky, Vladimir
AU - Prchal, Josef
AU - Schwahn, Uwe
AU - Berger, Wolfgang
AU - Kazazian, Haig H.
N1 - Funding Information:
We thank John Goodier, Eric Ostertag and Eline Luning Prak for helpful discussions, and the DNA Sequencing Core of the University of Pennsylvania School of Medicine for DNA sequencing. This work was supported by a grant from the NIH.
PY - 1999
Y1 - 1999
N2 - Functional L1 elements are autonomous retrotransposons that can insert into human genes and cause disease. To date, 10 of 12 known L1 retrotranspositions into human genes have been found to be 5'-truncated and incapable of further retratransposition. Here we report the nucleotide sequences of the two full-length L1 elements, L1(β-thal) and L1(RP), that have inserted into the β-globin and retinitis pigmentosa-2 (RP2) genes, respectively. L1(β-thal) is 99.4% identical to a consensus sequence of active human L1s, while L1(RP) is 99.9% identical. Both elements retain impressive capacity for high frequency retrotransposition in cultured HeLa cells. Indeed, L1(RP) is the most active L1 isolated to date. Our data indicate that not all L1 insertions into human genes are 'dead on arrival', Our findings also lend further credence to the concept of cis preference, that the proteins encoded by a particular L1 preferentially act upon their encoding RNA as opposed to other L1 RNAs.
AB - Functional L1 elements are autonomous retrotransposons that can insert into human genes and cause disease. To date, 10 of 12 known L1 retrotranspositions into human genes have been found to be 5'-truncated and incapable of further retratransposition. Here we report the nucleotide sequences of the two full-length L1 elements, L1(β-thal) and L1(RP), that have inserted into the β-globin and retinitis pigmentosa-2 (RP2) genes, respectively. L1(β-thal) is 99.4% identical to a consensus sequence of active human L1s, while L1(RP) is 99.9% identical. Both elements retain impressive capacity for high frequency retrotransposition in cultured HeLa cells. Indeed, L1(RP) is the most active L1 isolated to date. Our data indicate that not all L1 insertions into human genes are 'dead on arrival', Our findings also lend further credence to the concept of cis preference, that the proteins encoded by a particular L1 preferentially act upon their encoding RNA as opposed to other L1 RNAs.
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U2 - 10.1093/hmg/8.8.1557
DO - 10.1093/hmg/8.8.1557
M3 - Article
C2 - 10401005
AN - SCOPUS:0032816281
SN - 0964-6906
VL - 8
SP - 1557
EP - 1560
JO - Human molecular genetics
JF - Human molecular genetics
IS - 8
ER -