Article
Functional Investigation of a Non-coding Variant Associated with Adolescent Idiopathic Scoliosis in Zebrafish: Elevated Expression of the Ladybird Homeobox Gene Causes Body Axis Deformation.
PLoS genetics - 1 Jan 2016
Guo Long, Yamashita Hiroshi, Kou Ikuyo, Takimoto Aki, Meguro-Horike Makiko, Horike Shin-ichi, Sakuma Tetsushi, Miura Shigenori, Adachi Taiji, Yamamoto Takashi, Ikegawa Shiro, Hiraki Yuji, Shukunami Chisa
Abstract excerpt
Previously, we identified an adolescent idiopathic scoliosis susceptibility locus near human ladybird homeobox 1 (LBX1) and FLJ41350 by a genome-wide association study. Here, we characterized the associated non-coding variant and investigated the function of these genes. A chromosome conformation capture assay revealed that the genome region with the most significantly associated single nucleotide polymorphism...
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