11:10 〜 11:29

[1AW-18-6] SHH遺伝子座におけるCTCF結合配列の欠失は、エンハンサー ・プロモーター相互作用を変化させ、無手足症を引き起こす

^○牛木 亜季^1,2, Yichi Zhang^1,2,3, Chenling Xiong^1,2, Jingjing Zhao^1,2, Ilias GeorgakopoulosSoares^1,2, Lauren Kane⁴, Kirsty Jamieson², Michael J. Bamshad^5,6,7, Nickerson Deborah A.^6,7, Shen Yin^8,2, Lettice Laura A.⁴, SilveiraLucas Elizabeth Lemos⁹, Petit Florence¹⁰, Ahituv Nadav^1,2 (1.Dept. of Bioeng. and Therapeutic Sci., UCSF, 2.Inst. for Hum. Genet., UCSF, 3.Sch. of Pharmaceutical Sci., Tsinghua University, 4.MRC Hum. Genet. Unit, Inst. of Genet. and Mol. Med., Univ. of Edinburgh, 5.Dept. of Pediatrics, Univ. of Washington, 6.Dept. of Genome Sci., Univ. of Washington, 7.Brotman-Baty Inst., 8.Dept. of Neurology, UCSF, 9.Consultorio Genetica Clinica, 10.CHU Lille, Univ. of Lille)