Human Molecular Genetics, Vol 5, 989-993, Copyright © 1996 by Oxford University Press
T Takahara, T Ohsumi, J Kuromitsu, K Shibata, N Sasaki, Y Okazaki, H Shibata, S Sato, A Yoshiki, M Kusakabe, M Muramatsu, M Ueki, K Okuda and Y Hayashizaki
We examined the genomic structure of the reeler gene in Orleans reeler
mouse mutant. Exon skipping of the reeler gene caused a 220 bp deletion in
the transcript, resulting in a frame shift of the reeler gene which
disrupts the 8th EGF-like motif of the reeler product. Surprisingly, the
skipped exon was inserted by the 7104 bp L1 element which carried the
full-length stretch of the mouse L1 sequence, consisting of a 212 bp F-type
tandem repeat, open reading frame 1 (ORF1), ORF2, the polyadenylation
signal and a poly A stretch. The transposed L1 sequence was flanked by 13
bp of the target sequence at both ends. ORF1 and ORF2 of this L1 repeat
element are thought to encode a component of the RNP particle and the
reverse transcriptase, respectively. Orleans reeler was originally
established by spontaneous mutation caused by L1 insertion, and this L1
sequence is considered to be potentially active for transposition in mouse
genome.
ARTICLES
Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon
Genome Science Laboratory, RIKEN Tsukuba Life Science Center, Ibaraki, Japan.
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