Abstract:
:Retrotransposons have shaped eukaryotic genomes for millions of years. To analyze the consequences of human L1 retrotransposition, we developed a genetic system to recover many new L1 insertions in somatic cells. Forty-two de novo integrants were recovered that faithfully mimic many aspects of L1s that accumulated since the primate radiation. Their structures experimentally demonstrate an association between L1 retrotransposition and various forms of genetic instability. Numerous L1 element inversions, extra nucleotide insertions, exon deletions, a chromosomal inversion, and flanking sequence comobilization (called 5' transduction) were identified. In a striking number of integrants, short identical sequences were shared between the donor and the target site's 3' end, suggesting a mechanistic model that helps explain the structure of L1 insertions.
journal_name
Celljournal_title
Cellauthors
Symer DE,Connelly C,Szak ST,Caputo EM,Cost GJ,Parmigiani G,Boeke JDdoi
10.1016/s0092-8674(02)00839-5subject
Has Abstractpub_date
2002-08-09 00:00:00pages
327-38issue
3eissn
0092-8674issn
1097-4172pii
S0092867402008395journal_volume
110pub_type
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