G alpha s transcripts are biallelically expressed in the human kidney cortex: Implications for Pseudohypoparathyroidism type 1b

Citation
H. Zheng et al., G alpha s transcripts are biallelically expressed in the human kidney cortex: Implications for Pseudohypoparathyroidism type 1b, J CLIN END, 86(10), 2001, pp. 4627-4629
Citations number
26
Categorie Soggetti
Endocrynology, Metabolism & Nutrition","Endocrinology, Nutrition & Metabolism
Journal title
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
ISSN journal
0021972X → ACNP
Volume
86
Issue
10
Year of publication
2001
Pages
4627 - 4629
Database
ISI
SICI code
0021-972X(200110)86:10<4627:GASTAB>2.0.ZU;2-9
Abstract
Pseudohypoparathyroid type 1b patients are characterized by renal resistanc e to PTH in the absence of Albright's hereditary osteodystrophy or other en docrine abnormalities. Kindred studies have suggested that the cause of thi s resistance is a specific decrease in G alphas activity in renal proximal tubules due to paternal imprinting of G alphas. To test this, allelic expre ssion of G alphas was analyzed in human fetal kidney cortex samples by RT-P CR assays. The results showed that, in contrast to the parent-specific expr ession of exon 1A and XL alphas (paternal) or NESP (maternal) mRNAs, G alph as transcripts are biallelically expressed in human kidney cortex. These da ta implicate abnormal imprinting of alternative regions within the GNAS1 lo cus as a more likely cause of pseudohypoparathyroid type 1b.