HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.
[14796821 - Endocrine-Related Cancer] HEREDITARY ENDOCRINE TUMOURS_ CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES_ GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.pdf
cyclic AMP; gigantism; growth hormone; hypothalamus; pituitary; protein kinase A
Abstract :
[en] We recently described X-linked acrogigantism (X-LAG) in sporadic cases of infantile gigantism and a few familial cases of pituitary gigantism in the context of the disorder known as familial isolated pituitary adenomas. X-LAG cases with early onset gigantism (in infants or toddlers) shared copy number gains (CNG) of the distal long arm of chromosome X (Xq26.3). In all patients described to date with Xq26.3 CNG and acro-gigantism, the only coding gene sequence shared by all chromosomal defects was that of GPR101. GPR101 is a class A, rhodopsin-like orphan guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) with no known endogenous ligand. We review what is known about GPR101, specifically its expression profile in human and animal models, the evidence supporting causation of X-LAG and possibly other roles, including its function in growth, puberty and appetite regulation, as well as efforts to identify putative ligands.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Trivellin, Giampaolo
Faucz, Fabio R.
Daly, Adrian ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Beckers, Albert ; Université de Liège - ULiège > Département des sciences cliniques > Endocrinologie
Stratakis, Constantine A.
Language :
English
Title :
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.
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