Human l1 retrotransposition is associated with genetic instability in vivo.

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

Cell

journal_title

Cell

authors

Symer DE,Connelly C,Szak ST,Caputo EM,Cost GJ,Parmigiani G,Boeke JD

doi

10.1016/s0092-8674(02)00839-5

subject

Has Abstract

pub_date

2002-08-09 00:00:00

pages

327-38

issue

3

eissn

0092-8674

issn

1097-4172

pii

S0092867402008395

journal_volume

110

pub_type

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