Article
Three intragenic suppressors of a GTPase-deficient allele of GNAS associated with McCune-Albright syndrome.
Journal of molecular endocrinology - 1 Jun 2014
Turcic Kyle, Tobar-Rubin Raquel, Janevska Daniela, Carroll Julie, Din Eraj, Alvarez Rebecca, Haick Jennifer, Pals-Rylaarsdam Robin
Abstract excerpt
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 of random mutations in a constitutively active yeast...
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