| Literature DB >> 32187889 |
Asim K Bera1, Jia Lu1, Chunya Lu1,2, Lianbo Li1, Sudershan Gondi1, Wei Yan1, Andrew Nelson3, Goujun Zhang2, Kenneth D Westover1.
Abstract
RAS proteins are commonly mutated in cancerous tumors, but germline RAS mutations are also found in RASopathy syndromes such as Noonan syndrome (NS) and cardiofaciocutaneous (CFC) syndrome. Activating RAS mutations can be subclassified based on their activating mechanisms. Understanding the structural basis for these mechanisms may provide clues for how to manage associated health conditions. We determined high-resolution X-ray structures of the RASopathy mutant KRASP34R seen in NS and CFCS. GTP and GDP-bound KRASP34R crystallized in multiple forms, with each lattice consisting of multiple protein conformations. In all GTP-bound conformations, the switch regions are not compatible with GAP binding, suggesting a structural mechanism for the GAP insensitivity of this RAS mutant. However, GTP-bound conformations are compatible with intrinsic nucleotide hydrolysis, including one that places R34 in a position analogous to the GAP arginine finger or intrinsic arginine finger found in heterotrimeric G proteins, which may support intrinsic GTP hydrolysis. We also note that the affinity between KRASP34R and RAF-RBD is decreased, suggesting another possible mechanism for dampening of RAS signaling. These results may provide a foothold for development of new mutation-specific strategies to address KRASP34R -driven diseases.Entities:
Keywords: CFC syndrome; GAP-insensitive; GTPase; Noonan syndrome; RAS
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Year: 2020 PMID: 32187889 PMCID: PMC7495839 DOI: 10.1002/bdr2.1647
Source DB: PubMed Journal: Birth Defects Res Impact factor: 2.344