title: A novel aspect of GNAS imprinting: higher maternal expression of Gαs in human lymphoblasts, peripheral blood mononuclear cells, mammary adipose tissue, and heart.
abstract: The human GNAS gene is imprinted in a tissue-specific manner, being expressed primarily from the maternal allele in pituitary, thyroid, renal proximal tubules, and gonads, but is supposed to be biallelically expressed with an equal allelic expression in most other tissues. We analysed allelic expression of Gαs using Pyrosequencing. By genotyping the GNAS T393C polymorphism we quantified mRNA transcripts in lymphoblasts (Ly, n=11), peripheral blood mononuclear cells (PBMC, n=18), mammary adipose tissue (MAT, n=23) and heart tissue (HT, n=44). Allelic expression analysis revealed an unequal allelic expression (ratio maternal/total×100±SEM: 55.7±1% (95% CI 53.4-58.1%) in Ly, 56.1±0.8 (95% CI 54.5-57.7%) in PBMC, 54.5±0.8% (95% CI 53-56.1%) in MAT and 54.1±0.6% (95% CI 53-55.3%) in HT). Maternal ratio differed significantly from the mean (p<0.0001). This phenomenon may be a general feature existing in all tissues.
authors.affiliation: Institut für Pharmakogenetik, Universität Duisburg-Essen and Universitätsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany.
authors.forename: Stefanie
authors.initials: S
authors.lastname: Klenke
authors.forename: Winfried
authors.initials: W
authors.lastname: Siffert
authors.forename: Ulrich H
authors.initials: UH
authors.lastname: Frey
mesh_terms: D002460:Cell Line; D002864:Chromogranins; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics* / Q000378:metabolism; D015870:Gene Expression; D005787:Gene Frequency; D018392:Genomic Imprinting; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000378:metabolism*; D054503:Lymphoid Progenitor Cells / Q000378:metabolism*; D042361:Mammary Glands, Human / Q000502:physiology; D009206:Myocardium / Q000378:metabolism*; D009928:Organ Specificity; D020641:Polymorphism, Single Nucleotide; D011556:Pseudopseudohypoparathyroidism / Q000235:genetics; D017422:Sequence Analysis, DNA; D050151:Subcutaneous Fat / Q000378:metabolism*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics
chemical_list: D002864:Chromogranins; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs