非对称数字用户线
清脆的
转录组
生物
RNA干扰
遗传学
计算生物学
细胞生物学
基因
核糖核酸
计算机科学
数字用户线
基因表达
计算机网络
作者
Randall C. Mazzarino,Veronika Barešová,Marie Zikánová,Nathan Duval,Terry G. Wilkinson,David Patterson,Guido N. Vacano
标识
DOI:10.1016/j.ymgmr.2019.100512
摘要
Adenylosuccinate lyase (ADSL) catalyzes two steps in de novo purine synthesis (DNPS). Mutations in ADSL can result in inborn errors of metabolism characterized by developmental delay and disorder phenotypes, with no effective treatment options. Recently, SAICAR, a metabolic substrate of ADSL, has been found to have alternative roles in the cell, complicating the role of ADSL. crADSL, a CRISPR KO of ADSL in HeLa cells, was constructed to investigate DNPS and ADSL in a human cell line. Here we employ this cell line in an RNA-seq analysis to initially investigate the effect of DNPS and ADSL deficiency on the transcriptome as a first step in establishing a cellular model of ADSL deficiency. We report transcriptome changes in genes relevant to development, vascular development, muscle, and cancer biology, which provide interesting avenues for future research.
科研通智能强力驱动
Strongly Powered by AbleSci AI