Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

@article{Hayward1998BidirectionalIO,
  title={Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.},
  author={Bruce E. Hayward and Ver{\'o}nica Mor{\'a}n and Lisa Strain and David T. Bonthron},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1998},
  volume={95 26},
  pages={15475-80}
}
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 displayed by PHP-Ia has raised suspicions that GNAS1 is imprinted. Despite this suggestion, in most tissues Gsalpha is biallelically encoded. In contrast, the large G protein XLalphas, also encoded by GNAS1… CONTINUE READING

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Hayward et al

  • H. Jüppner, E. Schipani, +9 authors 11798–11803. 15480 Genetics
  • Proc. Natl. Acad. Sci. USA 95
  • 1998
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