Identity

The gene encoding the Gsα protein gene GNAS (Guanine Nucleotide binding protein, Alpha Stimulating) is located in one of the most complex locus of the human genome, the GNAS locus, on the long arm of chromosome 20 (20q13.32) (Gejman et al., 1991). The complexity of this locus does not lie only in the four alternative first exons splicing onto common exons 2 to 13, or the antisense transcript that resides in this locus, but this locus also presents an elaborated imprinting pattern. The genomic imprinting is an epigenetic process in which a specific imprint mark is erased in primordial germ cells and then reestablished during oogenesis or spermatogenesis, resulting in suppression of gen