clear from gene knockout studies. Depending on their parental origin, mutations that affect the Gsα transcript also disrupt some of the additional GNAS transcripts, such as XLαs. It is likely that the disruption of these additional gene products or alterations in the balance between the expression of Gsα and these proteins contributes to disease pathogenesis. It will therefore be important to investigate the factors regulating the expression of each GNAS product and to determine their cellular actions. Consequently, we will know more about the biological role of this gene locus and improve our understanding of the molecular mechanisms underlying the GNAS-related disorders. In addition, we will likely gain further insights into the functional significance of complex genes in the genome.
