Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.


Gain-of-function mutations in heterotrimeric G-protein α subunits are associated with a variety of human diseases. McCune-Albright syndrome (MAS) is caused by mutations in GNAS, the gene encoding Gs. Alterations at Arg201 significantly reduce the GTPase activity of the protein, rendering it constitutively active. In this study, we have constructed a library… (More)
DOI: 10.1530/JME-13-0297