A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/BGNASand Autosomal Dominant Pseudohypoparathyroidism Type Ib | Zendy

Nicolas Richard | Zendy; Geneviève Abéguilé | Zendy; Nadia Coudray | Zendy; Hervé Mittre | Zendy; Nicolas Gruchy | Zendy; Joris Andrieux | Zendy; P. Cathébras | Zendy; MarieLaure Kottler | Zendy

Open Access

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/BGNASand Autosomal Dominant Pseudohypoparathyroidism Type Ib

Author(s) -

Nicolas Richard,

Geneviève Abéguilé,

Nadia Coudray,

Hervé Mittre,

Nicolas Gruchy,

Joris Andrieux,

P. Cathébras,

MarieLaure Kottler

Publication year - 2012

Publication title -

the 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.2011-2804

Subject(s) - gnas complex locus , methylation , biology , genomic imprinting , genetics , pseudohypoparathyroidism , intron , locus (genetics) , exon , differentially methylated regions , dna methylation , microbiology and biotechnology , gene , gene expression , medicine , parathyroid hormone , calcium

Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH, leading to hypocalcemia and hyperphosphatemia. PHP-1b is an imprinted human disorder associated with methylation changes at one or several differentially methylated regions at the GNAS locus. This complex locus gives rise to several different transcripts with different patterns of imprinted expression depending on promoter methylation. They can be either coding [Gαs, XLαs, and neuroendocrine secretory protein-55 (NESP55)] or nontranslated (A/B and AS). The paternal AS transcript lies antisense to nesp55.

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