Published January 1, 2010
| Version v1
Journal article
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Deletion of the Noncoding GNAS Antisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects of GNAS Methylation in cis
Creators
- 1. Kaohsiung Med Univ, Kaohsiung Med Univ Hosp, Dept Nephrol, Kaohsiung 80708, Taiwan
- 2. Massachusetts Gen Hosp, Endocrine Unit, Dept Med, Boston, MA 02114 USA
Description
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.
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