Biallelic Expression of the Gsα Gene in Human Bone and Adipose Tissue

• DOI: 10.1210/jc.2004-0558
• Publication Date: 2004-12-03T23:47:38Z
• Authors: Giovanna Mantovani; Sara Bondioni; Marco Locatelli; Cecilia Pedroni; Andrea G. Lania; Emanuele Ferrante; Marcello Filopanti; Paolo Beck-Peccoz; Anna Spada
• Keywords: Haploinsufficiency; Genomic Imprinting; Pseudohypoparathyroidism

Mutations of the Gsalpha gene inherited from mother lead to pseudohypoparathyroidism (PHP) type Ia (PHP Ia), in which Albright's hereditary osteodistrophy is associated resistance action different hormones, whereas same mutations father isolated [pseudo-PHP (PPHP)]. Accordingly, it has been suggested that under tissue-specific imprinting control, and recent studies provided evidence for a predominant maternal origin transcripts endocrine organs involved PHP phenotype. To establish whether imprinted also tissues are site alteration both PPHP, we selected 20 bone 10 adipose tissue samples, were heterozygous known polymorphism exon 5. Expression parental alleles was evaluated by RT-PCR enzymatic digestion resulting fragments. By this approach, great majority samples analyzed showed an equal expression two alleles. Our results provide absence human fat suggest clinical finding osteodystrophy obesity PPHP patients despite presence normal allele likely due haploinsufficiency these tissues.