Article
Disruption of PTPS Gene Causing Pale Body Color and Lethal Phenotype in the Silkworm, Bombyx mori.
International journal of molecular sciences - 29 Mar 2018
Tong Xiaoling, Liang Pingfeng, Wu Songyuan, Li Yuanhao, Qiao Liang, Hu Hai, Xiang Zhonghuai, Lu Cheng, Dai Fangyin
Abstract excerpt
Phenylketonuria (PKU) is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene or by defects in the tetrahydrobiopterin (BH4) synthesis pathway. Here, by positional cloning, we report that the 6-pyruvoyl-tetrahydropterin synthase (PTPS) gene, encoding a key enzyme of BH4 biosynthesis, is responsible for the alc (albino C) mutation that displays pale body color, head...
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