Monoallelic, maternal Gsα expression has also been documented in human tissues through the analysis of a single nucleotide polymorphism located in exon 5. Thus, Gsα is predominantly maternal in thyroid, pituitary, and ovaries [43-45]. On the other hand, biallelic Gsα expression has been demonstrated in lymphocytes, adrenal, adipocytes, and bone cells [44, 46, 47]. The tissue-specific, imprinted expression of Gsα has important implications in the pathogenesis of diseases caused by mutations within GNAS, particularly pseudohypoparathyroidism (see below).
