Phenotypic Enhancement

A genetic interaction is inferred when mutation or overexpression of one gene results in enhancement of any phenotype (other than lethality/growth defect) associated with mutation or over expression of another gene.

Publication

Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.

Limbo O, Moiani D, Kertokalio A, Wyman C, Tainer JA, Russell P

The Mre11 complex (Mre11-Rad50-Nbs1 or MRN) binds double-strand breaks where it interacts with CtIP/Ctp1/Sae2 and ATM/Tel1 to preserve genome stability through its functions in homology-directed repair, checkpoint signaling and telomere maintenance. Here, we combine biochemical, structural and in vivo functional studies to uncover key properties of Mre11-W243R, a mutation identified in two pediatric cancer patients with enhanced ataxia telangiectasia-like disorder. ... [more]

Nucleic Acids Res. Oct. 17, 2012; 0(0); [Pubmed: 23080121]

Throughput

  • Low Throughput

Ontology Terms

  • phenotype: telomere length (APO:0000144)

Additional Notes

  • double mutants show a loss of telomeres

Related interactions

InteractionExperimental Evidence CodeDatasetThroughputScoreCurated ByNotes
MRE11 RAD3
Synthetic Growth Defect
Synthetic Growth Defect

A genetic interaction is inferred when mutations in separate genes, each of which alone causes a minimal phenotype, result in a significant growth defect under a given condition when combined in the same cell.

Low-BioGRID
246951
MRE11 RAD3
Synthetic Lethality
Synthetic Lethality

A genetic interaction is inferred when mutations or deletions in separate genes, each of which alone causes a minimal phenotype, result in lethality when combined in the same cell under a given condition.

Low-BioGRID
246876

Curated By

  • BioGRID