Article
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
Proceedings of the National Academy of Sciences of the United States of America - 22 Dec 1998
Hayward B E, Moran V, Strain L, Bonthron D T
Abstract excerpt
The GNAS1 gene encodes the alpha subunit of the guanine nucleotide-binding protein Gs, which couples signaling through peptide hormone receptors to cAMP generation. GNAS1 mutations underlie the hormone resistance syndrome pseudohypoparathyroidism type Ia (PHP-Ia), so the maternal inheritance disp...
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Base Sequence
- Cattle
- Cloning, Molecular
- DNA
- DNA Methylation
- Exons
- Eye
- Female
- Fetus
- GTP-Binding Protein alpha Subunits, Gs
- Genomic Imprinting
- Humans
- Kidney
- Male
- Mice