Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

doi:10.1056/NEJM199112123252403

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Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

L S LS Weinstein, A A Shenker, P V PV Gejman, M J MJ Merino, E E Friedman and A M AM Spiegel N Engl J Med 325(24):1688-95 (1991) PMID 1944469

The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that results in activation of the signal-transduction pathway generating cyclic AMP (cAMP). We analyzed DNA from tissues of patients with the McCune-Albright syndrome for the presence of activating mutations of the gene for the alpha subunit of the G protein (Gs alpha) that stimulates cAMP formation.

DOI: 10.1056/NEJM199112123252403
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