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Humboldt-Universität zu Berlin - IRI Life Sciences

Humboldt-Universität zu Berlin | IRI Life Sciences | Events | Colloquium | Cell Communication | IRI-Schering Colloquium - Stanislav Shvartsman: "Quantitative biology of developmental signaling"

IRI-Schering Colloquium - Stanislav Shvartsman: "Quantitative biology of developmental signaling"

Princeton University
What
  • Cell Communication
  • Colloquium
When Jan 11, 2018 from 04:00 PM to 05:30 PM (Europe/Vienna / UTC100) iCal
Where IRI Life Sciences, Philippstr. 13, Bld. 18, 3rd Floor
Contact Name

coll.pngSchering

 

 

If you like to meet our speaker for a personal discission, please contact stefanie.scharf@iri-lifesciences.de

 

Abstract

A large class of human developmental abnormalities is caused by the germline mutations in the highly conserved Ras signaling pathway. These conditions, collectively known as the Rasopathies, are characterized by a broad spectrum of phenotypes, including congenital heart defects, stunted growth, and neurocognitive impairments. Sequencing studies of affected individuals are continuing to identify mutations in the well-studied Ras pathway, but the mechanisms by which they give rise to the observed phenotypes are unclear. Our recent work demonstrated how these mechanisms can be probed systematically and quantitatively using biochemical studies with purified components and genetic experiments in Drosophila and zebrafish (Goyal et al, Nature Genetics, 2017; Goyal et al, Disease Models and Mechanisms, 2017; Jindal et al, PNAS, 2017; Jindal et al, J Biol Chem, 2017). Surprisingly, we found that mutations that are clearly activating in vitro cause both gain- and loss of function phenotypes in the organism. These results change the current views on the mechanisms of RASopathies and demonstrate the need for quantitative approaches in studies of developmental defects.