Abstract
In order to find novel modulators of gonadotrophin-releasing hormone (GnRH) secretion, genetic tools were employed in patients with idiopathic hypogonadotrophic hypogonadism (IHH). Mutations in a G-protein coupled receptor, GPR54, were identified, making this receptor a genetic determinant and indisputable gatekeeper of normal reproductive function. This article places these investigations into historical context and reviews some of the new findings relevant to this pathway.
MeSH terms
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Animals
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Gene Deletion
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Gonadotropin-Releasing Hormone / metabolism
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Heterotrimeric GTP-Binding Proteins / metabolism
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Humans
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Hypogonadism / genetics
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Hypogonadism / metabolism
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Kisspeptins
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Puberty / physiology
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Receptors, G-Protein-Coupled / genetics
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Receptors, G-Protein-Coupled / metabolism*
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Receptors, Kisspeptin-1
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Reproduction / physiology*
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Signal Transduction / physiology*
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Tumor Suppressor Proteins / genetics
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Tumor Suppressor Proteins / metabolism*
Substances
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KISS1 protein, human
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KISS1R protein, human
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Kisspeptins
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Receptors, G-Protein-Coupled
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Receptors, Kisspeptin-1
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Tumor Suppressor Proteins
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Gonadotropin-Releasing Hormone
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Heterotrimeric GTP-Binding Proteins