Session Details
[3PS-07]【J】RNA splicing : its sophisticated mechanism and diseases caused by disruption
Fri. Dec 5, 2025 2:20 PM - 4:20 PM JST
Fri. Dec 5, 2025 5:20 AM - 7:20 AM UTC
Fri. Dec 5, 2025 5:20 AM - 7:20 AM UTC
Room 7(Pacifico Yokohama Conference Center 3F, 313+314)
Organizer: Naoyuki Kataoka (The University of Tokyo), Daisuke Kaida (University of Toyama)
Most of nuclear-encoded genes are separated by intervening sequences, called as introns in higher eukaryotes. RNA splicing is required to produce mRNA by removing introns and ligating exons. Molecular mechanisms of RNA splicing have been investigated and well accepted how sophisticate it is. However, aberrant splicing often results in inherited diseases in human. In this workshop we will focus on importance of splicing by introducing recent findings in health and diseases.
Introduction
[3PS-07-01]Making a choice of microexons governs synapse formation and behavioral development
○Ayako Imai1,2,3, Tomoyuki Yoshida2,3 (1. Azabu University, 2. Grad Sch Med & Pharm Sci, Univ of Toyama, Toyama, Japan,, 3. Res Ctr for Idling Brain Sci, Univ of Toyama, Toyama, Japan)
[3PS-07-02(3P-724)]TENM4-related familial epilepsy caused by imbalance in splicing variant expression
○Yasuyo Suzuki1, Yasushi Enokido2, Noriko Nomura1, Kenichiro Yamada1, Jun-ichi Takanashi3, Hiroaki Miyahara4, Johji Inazawa5, Shin Hayashi1,5 (1. Dept. of Genet., Inst. for Develop. Res., Aichi Develop. Disability Ctr., 2. Dept. of Cell Pathol., Inst. for Develop. Res., Aichi Develop. Disability Ctr., 3. Dept. of Pediatr., Tokyo Women's Med. Univ. Yachiyo Med. Ctr., 4. Inst. for Med. Sci. of Aging, Aichi Med. Univ., 5. Dept of Mol Cytogenetics, Med. Research Inst. and Grad. Sch. of Med. and Dental. Sci.)
[3PS-07-03(3P-157)]Aberrant Splicing in NIPBL-deficient Embryoid Bodies and Its Impact on Cardiac and Neural Lineages
○Eiko Saijou1, Masashige Bando1, Yuki Okada1, Katsuhiko Shirahige1, Heiko Peters2, Ryuichiro Nakato1 (1. Institute for Quantitative Biosciences, The University of Tokyo, 2. Newcastle University)
[3PS-07-04]Diversity of Aberrant Splicing Events Induced by -2A Mutations at Splice Acceptor Sites in the DMD Gene
○Aiko Sunami1,2, Tomoko Horiguchi1, Atsuko Takeuchi1, Yuka Ishikawa3, Naoyuki Kataoka4, Koichiro Komai2, Hisahide Nishio5, Masafumi Matsuo6 (1. Kobe Tokiwa Univ., 2. Kobe Univ., 3. National Hospital Organization Hokkaido Medical Center, 4. Tokyo Univ., 5. Kobegakuin Univ., 6. Kobe University)
[3PS-07-05]MDS-associated mutations in ZRSR2 disrupt ZRSR2-SF3B interaction, which causes aberrant splicing of minor introns.
○Tomoki Chiba1, Eri Matsumoto1,2, So Masaki1, Satoshi Tanaka1, Eiji Obayashi3, Naoyuki Kataoka1 (1. The University of Tokyo, 2. Tokyo University of Agriculture, 3. Shimane University)
[3PS-07-06(3P-931)]Molecular Pathogenesis of Mitochondrial Diseases Elucidated by Multi-Omics Analysis Focusing on Dark Regions of the Genome
○Kohta Nakamura1, Yoshihito Kishita1,2, Atsuko Okazaki1, Ayumu Sugiura1, Yukiko Yatsuka1, Kokoro Ozaki1,3, Naoyuki Matsumoto1, Taku Omata4, Maki Nodera5,6, Holger Prokisch7,8, Yuichi Shiraishi9, Hiroshi Matsumoto10, Akira Ohtake10,11, Kei Murayama1, Yasushi Okazaki1 (1. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University,, 2. Department of Life Science, Faculty of Science and Engineering, Kindai University, 3. Department of Neuroimmunology, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4. Department of Pediatrics, Tokyo Women’s Medical University, Yachiyo Medical Center, 5. Fukushima Medical University Pediatric, 6. SUYAMA KIDS CLINIC, 7. Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 8. School of Medicine, Institute of Human Genetics, Technical University of Munich, 9. Division of Genome Analysis Platform Development, National Cancer Center Research Institute, 10. Department of Pediatrics, Saitama Medical University, 11. Department of Clinical Genomics, Saitama Medical University)
[3PS-07-07(3P-835)]Alternative splicing drives neighboring cell-mediated defective cell elimination
○Mai Miyake1, Yuki Akieda1, Akihito Harada2, Yasuyuki Ohkawa3, Tohru Ishitani1 (1. RIMD, UOsaka, 2. Fac. of Med. Sci., Kyushu Univ., 3. MiB, Kyushu Univ.)
[3PS-07-08]Disruption of pre-mRNA splicing regulation causes cytokinin-dependent inhibition of cell dedifferentiation in Arabidopsis
○Ami Takeuchi1, Misato Ohtani1,2,3,4 (1. Grad. Sch. Front. Sci., Univ. Tokyo, 2. Grad. Sch. Sci., Univ. Tokyo, 3. Div. Bio. Sci., NAIST, 4. CSRS, RIKEN)
[3PS-07-09]Architectural splicing networks spreading throughout the nucleus
○Akio Masuda1,2, Takaaki Okamoto1, Masahide Fukada1, Yoshiharu Kawaguchi1, Tohru Matsuki1 (1. Aichi Developmental Disability Center, 2. Nagoya University)
[3PS-07-10]Is the splicing machinery dedicated solely to splicing? – Crosstalk with other gene expression mechanisms –
○Daisuke Kaida1 (1. University of Toyama)