Ontology highlight
ABSTRACT:
SUBMITTER: Hayward BE
PROVIDER: S-EPMC21457 | biostudies-literature | 1998 Aug
REPOSITORIES: biostudies-literature
Hayward B E BE Kamiya M M Strain L L Moran V V Campbell R R Hayashizaki Y Y Bonthron D T DT
Proceedings of the National Academy of Sciences of the United States of America 19980801 17
The GNAS1 gene encodes the alpha subunit of the G protein Gs, which couples receptor binding by several hormones to activation of adenylate cyclase. Null mutations of GNAS1 cause pseudohypoparathyroidism (PHP) type Ia, in which hormone resistance occurs in association with a characteristic osteodystrophy. The observation that PHP Ia almost always is inherited maternally has led to the suggestion that GNAS1 may be an imprinted gene. Here, we show that, although Gsalpha expression (directed by the ...[more]