Positive Genetic

Mutations/deletions in separate genes, each of which alone causes a minimal phenotype, but when combined in the same cell results in a less severe fitness defect than expected under a given condition. This term is reserved for high or low throughput studies with scores.

Publication

Transmembrane insertases and N-glycosylation critically determine synthesis, trafficking, and activity of the nonselective cation channel TRPC6.

Talbot BE, Vandorpe DH, Stotter BR, Alper SL, Schlondorff JS

Transient receptor potential cation channel subfamily C member 6 (TRPC6) is a widely expressed ion channel. Gain-of-function mutations in the human TRPC6 channel cause autosomal-dominant focal segmental glomerulosclerosis, but the molecular components involved in disease development remain unclear. Here, we found that overexpression of gain-of-function TRPC6 channel variants is cytotoxic in cultured cells. Exploiting this phenotype in a genome-wide CRISPR/Cas ... [more]

J. Biol. Chem. Aug. 23, 2019; 294(34);12655-12669 [Pubmed: 31266804]

Throughput

  • High Throughput

Ontology Terms

  • phenotype: growth abnormality (HP:0001507)
  • phenotype: viability (PATO:0000169)

Additional Notes

  • CRISPR GI screen
  • Cell Line: TRex 293
  • Experimental Setup: Positive Selection Screen
  • GIST: A-phenotypic positive genetic interaction
  • Hit genes conferred resistance to the cytotoxicity seen upon expression of a TRCP GOF mutant
  • Library: Brunello Human Library
  • Significance Threshold:NScore>3.4

Curated By

  • BioGRID