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, cilt.95, sa.8, ss.3993-4002, 2010 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 95 Sayı: 8
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1210/jc.2009-2205
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3993-4002
  • Marmara Üniversitesi Adresli: Evet

Özet

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.