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TheGNAS1 gene encodes the α subunit of the G protein Gs , which couples receptor binding by several hormones to activation of adenylate cyclase. Null mutations ofGNAS1 cause pseudohypoparathyroidism (PHP) type Ia, in which hormone resistance occurs in association with a characteristic osteodystrophy. The observation that PHP Ia almost always is inherited maternally has led to the suggestion thatGNAS1 may be an imprinted gene. Here, we show that, although Gs α expression (directed by the promoter upstream of exon 1) is biallelic,GNAS1 is indeed imprinted in a promoter-specific fashion. We used parthenogenetic lymphocyte DNA to screen by restriction landmark genomic scanning for loci showing differential methylation between paternal and maternal alleles. This screen identified a region that was found to be methylated exclusively on a maternal allele and was located ≈35 kb upstream ofGNAS1 exon 1. This region contains three novel exons that are spliced into alternativeGNAS1 mRNA species, including one exon that encodes the human homologue of the large G protein XLαs. Transcription of these novel mRNAs is exclusively from the paternal allele in all tissues examined. The differential imprinting of separate protein products ofGNAS1 therefore may contribute to the anomalous inheritance of PHP Ia.

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins