Ontology highlight
ABSTRACT:
SUBMITTER: Jiang G
PROVIDER: S-EPMC7137946 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Jiang Guihua G Song Jiangbo J Hu Hai H Tong Xiaoling X Dai Fangyin F
Royal Society open science 20200325 3
Human sepiapterin reductase (SR) deficiency is an inherited disease caused by <i>SPR</i> gene mutations and is a monoamine neurotransmitter disorder. Here, we investigated whether the silkworm <i>lemon</i> mutant could serve as a model of SR deficiency. A point mutation in the <i>BmSPR</i> gene led to a five amino acid deletion at the carboxyl terminus in the <i>lemon</i> mutant. In addition, classical phenotypes seen in SR deficient patients were observed in the <i>lemon</i> mutant, including a ...[more]