Open AccessDeletion of the NoncodingGNASAntisense Transcript Causes Pseudohypoparathyroidism Type Ib and Biparental Defects ofGNASMethylationin cis
Author(s) -
Smitha Chillambhi,
Serap Turan,
Daw Yang Hwang,
Hung Chun Chen,
Harald Jüppner,
Murat Baştepe
Publication year - 2010
Publication title -
the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2009-2205
Subject(s) - gnas complex locus , pseudohypoparathyroidism , genomic imprinting , biology , exon , genetics , epigenetics , imprinting (psychology) , dna methylation , methylation , uniparental disomy , microbiology and biotechnology , medicine , parathyroid hormone , gene , gene expression , karyotype , chromosome , calcium
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 XLalphas, 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 Gsalpha expression in renal proximal tubules and thereby cause resistance to PTH.