Glomerular-specific imprinting of the mouse Gs{alpha} gene: How does this relate to hormone resistance in Albright hereditary osteodystrophy?

Journal Article · Sun Sep 01 04:00:00 EDT 1996 · Genomics

DOI:https://doi.org/10.1006/geno.1996.0463· OSTI ID:486313

Williamson, C M; Dutton, E R; Seymour, A ^[1]

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1. Medical Research Council, Oxfordshire (United Kingdom); and others

The gene for alpha-stimulating guanine-nucleotide binding polypeptide, Gnas, has been considered as a candidate for the imprinting effects ascribed to distal mouse Chromosome (Chr) 2. Its human homologue (GNAS1) appears, from clinical and biochemical studies of patients with Albright hereditary ostodystrophy, to be paternally imprinted. GNAS1 maps to 20q13, a region that shows linkage conservation with distal mouse Chr 2. We have mapped Gnas within the imprinting region on distal Chr 2 by linkage analysis. To establish if Gnas is imprinted, we have looked for expression differences in tissues taken from mice carrying maternal duplication/paternal deficiency for distal Chr 2 (MatDp2) and its reciprocal (PatDp2). RNA in situ hybridization revealed high levels of Gnas mRNA in glomeruli of PatDp2 embryos at late gestation and lower levels in glomeruli of MatDp2 embryos. These results strongly suggest that Gnas is maternally imprinted and suggest that the mouse gene may be imprinted in a manner opposite the predicted in human. 42 refs., 4 figs.

• OSTI ID: 486313
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 36; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMES
DNA HYBRIDIZATION
GENE REGULATION
GENETIC MAPPING
GLOMERULI
GUANINE
HEREDITARY DISEASES
HORMONES
HUMAN CHROMOSOMES
MAN
MICE
NUCLEOTIDES
POLYMERASE CHAIN REACTION
POLYPEPTIDES
SEX DEPENDENCE
SKELETAL DISEASES
TISSUE DISTRIBUTION