TY  - GEN
T1  - Effects of ASD-associated daf-18/PTEN missense variants on C. elegans dauer development
AU  - González-Cavazos, Carolina
AU  - Cao, Mengyi
AU  - Wong, Wan-Rong
AU  - Chai, Cynthia
AU  - Sternberg, Paul W
DO  - 10.17912/micropub.biology.000177
UR  - http://beta.micropublication.org/journals/biology/micropub-biology-000177/
AB  - The relatively simple nervous system and facile genetics of Caenorhabditis elegans makes it a potential model organism to study the genetic basis of complex neural diseases, such as autism spectrum disorder (ASD). Our previously published study identified conserved human ASD-missense variants in C. elegans orthologs that have a role on morphology, locomotion or fecundity, suggesting C. elegans as an efficient phenotypic model to study conserved ASD variants (Wong et al., 2019). One of the ASD-associated genes screened in this study is daf-18, an ortholog of PTEN. DAF-18/PTEN is a lipid phosphatase protein that dephosphorylates PIP3, a critical lipid second messenger that mediates downstream kinase cascade signaling of the insulin pathway, that in turn regulates expression of genes involved in C. elegans lifespan and dauer formation (Murphy and Hu, 2013). It is reported that the daf-18(e1375) strain, which has a 30–base pairs insertion in the fourth exon, has a dauer defective phenotype (Ogg and Ruvkun, 1998); however, the effect of daf-18/PTEN single amino acid substitution in dauer formation has not been evaluated before. Here, we investigate the dauer entry abilities of previously published ASD-associated daf-18/PTEN missense variants (Wong et al., 2019).
PY  - 2019
JO  - microPublication Biology
ER  -