Article
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.
Human mutation - 1 Mar 2015
Kagawa Tatehiro, Oka Akira, Kobayashi Yoshinao, Hiasa Yoichi, Kitamura Tsuneo, Sakugawa Hiroshi, Adachi Yukihiko, Anzai Kazuya, Tsuruya Kota, Arase Yoshitaka, Hirose Shunji, Shiraishi Koichi, Shiina Takashi, Sato Tadayuki, Wang Ting, Tanaka Masayuki, Hayashi Hideki, Kawabe Noboru, Robinson Peter N, Zemojtel Tomasz, Mine Tetsuya
Abstract excerpt
Sequences of long-interspersed elements (LINE-1, L1) make up ∼17% of the human genome. De novo insertions of retrotransposition-active L1s can result in genetic diseases. It has been recently shown that the homozygous inactivation of two adjacent genes SLCO1B1 and SLCO1B3 encoding organic anion transporting polypeptides OATP1B1 and OATP1B3 causes a benign recessive disease presenting with conjugated...
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