caa a22 4500 397575505 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.989 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.989 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 [Elektronische Daten] [Tokuei Takahara, Tomoya Ohsumi, Junro Kuromitsu, Kazuhiro Shibata, Nobuya Sasaki, Yasushi Okazaki, Hideo Shibata, Shigeo Sato, Atsushi Yoshiki, Moriaki Kusakabe, Masami Muramatsu, Minoru Ueki, Kiyoji Okuda, Yoshihide 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. © 1996 Oxford University Press Takahara Tokuei Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Ohsumi Tomoya Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Kuromitsu Junro Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Shibata Kazuhiro Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Sasaki Nobuya Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Okazaki Yasushi Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Shibata Hideo Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Sato Shigeo Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Yoshiki Atsushi Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Kusakabe Moriaki Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Muramatsu Masami Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Ueki Minoru Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-chou, Takatsuki, Osaka 569, Japan aut Okuda Kiyoji Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-chou, Takatsuki, Osaka 569, Japan aut Hayashizaki Yoshihide Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 989-993 0964-6906 5:7<989 1996 5 hmg https://doi.org/10.1093/hmg/5.7.989 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.989 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Takahara Tokuei Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Ohsumi Tomoya Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Kuromitsu Junro Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Shibata Kazuhiro Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Sasaki Nobuya Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Okazaki Yasushi Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Shibata Hideo Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Sato Shigeo Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Yoshiki Atsushi Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Kusakabe Moriaki Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Muramatsu Masami Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 700 1- Ueki Minoru Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-chou, Takatsuki, Osaka 569, Japan aut NATIONALLICENCE 700 1- Okuda Kiyoji Department of Obstetrics and Gynecology, Osaka Medical College, 2-7 Daigaku-chou, Takatsuki, Osaka 569, Japan aut NATIONALLICENCE 700 1- Hayashizaki Yoshihide Genome Science Laboratory and Division of Experimental Animal Research, RIKEN Tsukuba Life Science Center, The Institute of Physical and Chemical Research (RIKEN), 3-1-1 Koyadai, Tsukuba, Ibaraki 305, Japan aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 989-993 0964-6906 5:7<989 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 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