title: 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.
abstract: 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.
authors.affiliation: Genome Science Laboratory, RIKEN Tsukuba Life Science Center, Ibaraki, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takahara
authors.forename: T
authors.initials: T
authors.lastname: Ohsumi
authors.forename: J
authors.initials: J
authors.lastname: Kuromitsu
authors.forename: K
authors.initials: K
authors.lastname: Shibata
authors.forename: N
authors.initials: N
authors.lastname: Sasaki
authors.forename: Y
authors.initials: Y
authors.lastname: Okazaki
authors.forename: H
authors.initials: H
authors.lastname: Shibata
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: A
authors.initials: A
authors.lastname: Yoshiki
authors.forename: M
authors.initials: M
authors.lastname: Kusakabe
authors.forename: M
authors.initials: M
authors.lastname: Muramatsu
authors.forename: M
authors.initials: M
authors.lastname: Ueki
authors.forename: K
authors.initials: K
authors.lastname: Okuda
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashizaki
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015816:Cell Adhesion Molecules, Neuronal / Q000235:genetics*; D004251:DNA Transposable Elements / Q000235:genetics*; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005796:Genes / Q000235:genetics; D051379:Mice; D008818:Mice, Neurologic Mutants; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D016366:Open Reading Frames / Q000235:genetics; D011061:Poly A / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D000091042:Reelin Protein; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D018626:Retroelements / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D012697:Serine Endopeptidases
chemical_list: D015816:Cell Adhesion Molecules, Neuronal; D004251:DNA Transposable Elements; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D012333:RNA, Messenger; D000091042:Reelin Protein; D018626:Retroelements; D011061:Poly A; D012697:Serine Endopeptidases