所属 埼玉医科大学 医学部 神経精神科・心療内科 職種 教授
|Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.
|正式名：BMC medical genomics
|Maria Yamasaki,Takashi Makino,Seik-Soon Khor,Hiromi Toyoda,Taku Miyagawa,Xiaoxi Liu,Hitoshi Kuwabara,Yukiko Kano,Takafumi Shimada,Toshiro Sugiyama,Hisami Nishida,Nagisa Sugaya,Mamoru Tochigi,Takeshi Otowa,Yuji Okazaki,Hisanobu Kaiya,Yoshiya Kawamura,Akinori Miyashita,Ryozo Kuwano,Kiyoto Kasai,Hisashi Tanii,Tsukasa Sasaki,Makoto Honda,Katsushi Tokunaga
|BACKGROUND: Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experiments if a CNV is rare or a singleton. In this study, we attempted to overcome this issue by using two approaches: by assessing the influences of gene dosage sensitivity and gene expression sensitivity. Dosage sensitive genes derived from two-round whole-genome duplication in previous studies. In addition, we proposed a cross-sectional omics approach that utilizes open data from GTEx to assess the effect of whole-genome CNVs on gene expression.