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Science Signaling Podcast for 12 April 2016: G proteins in auriculo-condylar syndrome

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Sci. Signal.  12 Apr 2016:
Vol. 9, Issue 423, pp. pc9
DOI: 10.1126/scisignal.aaf7740

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Abstract

This Podcast features an interview with Mikel Garcia-Marcos, author of a Research Article that appears in the 12 April 2016 issue of Science Signaling, about how mutations in a G protein cause auriculo-condylar syndrome (ACS). ACS is caused by mutations that affect signaling through the endothelin type A receptor (ETAR) and is characterized by craniofacial abnormalities resulting from defects in neural crest development. ETAR is a G protein–coupled receptor (GPCR) that signals primarily through heterotrimeric G proteins containing Gαq/11, but mutations in Gαi3 are also associated with ACS. Marivin et al. found that ETAR coupled to ACS-associated mutant forms of Gαi3 instead of coupling to Gαq/11. These mutant forms of Gαi3 lacked enzymatic activity and thus blocked ETAR signaling.

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