[O12] Oral Session 12　New Technologies, Population Genetics | The 69th Annual Meeting of the Japan Society of Human Genetics

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Oral Session

[O12]Oral Session 12　New Technologies, Population Genetics

Sat. Oct 12, 2024 9:00 AM - 9:50 AM JST
Sat. Oct 12, 2024 12:00 AM - 12:50 AM UTC

Room 6（Castle, 1F）

Chairs：Yoko Kuroki（National Center for Child Health and Development）, Tatsuhiko Tsunoda（The University of Tokyo）

[O12-1]Developing a rapid method for creating mouse models of genetic diseases using novel chromosome engineering technology

^○Hiroaki Kobayashi¹, Hitomaru Miyamoto¹, Yosuke Hiramuki², Kanako Kazuki³, Teruhiko Suzuki⁴, Yasuhiro Kazuki^1,2,3,5 (1.Department of Chromosome Biomedical Engineering, Integrated Medical Sciences, Graduate School of Medical Sciences, Tottori University, Tottori, Japan, 2.Department of Chromosome Biomedical Engineering, School of Life Science, Faculty of Medicine, Tottori University, Tottori, Japan, 3.Chromosome Engineering Research Center, Tottori University, Tottori, Japan, 4.Stem Cell Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, 5.Chromosome Engineering Research Group, The Exploratory Research Center on Life and Living Systems (ExCELLS), National Institutes of Natural Sciences, Aichi, Japan)

[O12-2]RNAseq analysis and targeted longread sequencing to unravel complicated splicing abnormalities in dystrophinopathy

^○Mariko Okubo^1,2, Satoru Noguchi¹, Tomonari Awaya³, Shinichirou Hayashi¹, Ichizo Nishino¹ (1.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Human Genetics, National Center for Global Health and Medicine, 3.Center for Anatomical Studies, Graduate School of Medicine, Kyoto University)

[O12-3]Evolution of the Japanese Y chromosome in the context of haplogroups and AZFc region deletion patterns

^○Kenshiro Nii¹, Atsushi Tada¹, Yusuke Nakagawa¹, Yuka Nagasaki², Youichi Sato² (1.Department of Pharmaceutical Information Science, Faculty of Pharmaceutical Sciences, Tokushima University, 2.Department of Pharmaceutical Information Science, Tokushima University Graduate School of Biomedical Sciences)

[O12-4]Repeated ancient pandemics inscribed in the anti-viral APOBEC3 regulatory region of Homo sapiens

^○Naoko Fujito^1,2, Revathi Sundaramoorthydevi⁴, Yoko Satta³, Ituro Inoue² (1.Laboratory for Evolutionary Brain Pathology, Department of System Pathology for Neurological Disorder, Brain Research Institute, Niigata University, Niigata, Japan, 2.National Institute of Genetics, Mishima, Japan, 3.School of Advanced Sciences, The Graduate University for Advanced Studies, Hayama, Japan, 4.Department of Genetic Engineering, SRM Institute of Science and Technology, Chennai, India)

[O12-5]Association of beta 2-adrenergic receptor gene polymorphism with seasonal differences in total daily energy expenditure

^○Aki Kondo^1,2, Kaori Ikeda^2,3, Hidenori Kawasaki^1,4, Daisuke Tanaka², Fumika Mano-Usui², Sachiko Kawashima^2,5, Emi Okamura², Nobuya Inagaki^2,6, Daisuke Yabe² (1.Clinical Genetics Unit, Kyoto University Hospital, Kyoto, Japan, 2.Department of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Kyoto, Japan, 3.Department of Clinical Research Facilitation, Institute for Advancement of Clinical and Translational Science, Kyoto University Hospital, Kyoto, Japan, 4.Department of Genomic Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan, 5.Preemptive Medicine and Lifestyle Related Disease Research Center, Kyoto University Hospital, Kyoto, Japan, 6.Medical Research Institute Kitano Hospital, P.I.I.F. Tazuke-Kofukai, Osaka, Japan)

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