Journal Article

Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells

Michelle L. Kimberland, Vladimir Divoky, Josef Prchal, Uwe Schwahn, Wolfgang Berger and Haig H. Kazazian

in Human Molecular Genetics

Volume 8, issue 8, pages 1557-1560
Published in print August 1999 | ISSN: 0964-6906
Published online August 1999 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/8.8.1557
Full-Length Human L1 Insertions Retain the Capacity for High Frequency Retrotransposition in Cultured Cells

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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 retrotransposition. Here we report the nucleotide sequences of the two full-length L1 elements, L1β-thal and L1RP, that have inserted into the β-globin and retinitis pigmentosa-2 (RP2) genes, respectively. L1β-thal is 99.4% identical to a consensus sequence of active human L1s, while L1RP is 99.9% identical. Both elements retain impressive capacity for high frequency retro-transposition in cultured HeLa cells. Indeed, L1RP 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.

Journal Article.  2381 words.  Illustrated.

Subjects: Genetics and Genomics

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