Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis


Chillambhi S., Turan S. , Hwang D., Chen H., Jueppner H., Bastepe M.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.95, no.8, pp.3993-4002, 2010 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 95 Issue: 8
  • Publication Date: 2010
  • Doi Number: 10.1210/jc.2009-2205
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.3993-4002

Abstract

Context: GNAS encodes the alpha-subunit of the stimulatory G protein as well as additional imprinted transcripts including the maternally expressed NESP55 and the paternally expressed XL alpha s, antisense, and A/B transcripts. Most patients with pseudohypoparathyroidism type Ib (PHP-Ib) exhibit imprinting defects affecting the maternal GNAS allele, which are thought to reduce/abolish Gs alpha expression in renal proximal tubules and thereby cause resistance to PTH.