The GPR54 gene as a regulator of puberty

Article Abstract:

A gene for a G protein-coupled receptor called the GPR54 gene appears to be involved in initiating puberty, according to a study in humans and mice. Mutations of this gene were found in a large Saudi Arabian family with a family history of a delayed puberty disorder called idiopathic hypogonadotropic hypogonadism. The receptor produced by this gene may be stimulated by gonadotropin-releasing hormone, the hormone responsible for initiating puberty.

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Bench and bedside -- the G protein-coupled receptor GPR54 and puberty

Article Abstract:

Research in mice showed that a mutation in the gene for G protein-coupled receptor (GPR54) could delay puberty, a result that was confirmed in humans. The resulting medical condition is called hypogonadism. So far, mutations in eight genes have been identified that can cause hypogonadism in humans.

Models, Hypogonadism

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A GPR54-activating mutation in a patient with central precocious puberty

Article Abstract:

A study to examine the association of gain-of-function mutations of GPR54 receptor leading to the onset of central precocious puberty is conducted. Results show that the mutation leads to prolonged activation of intracellular signaling pathways in response to kisspeptin.

United States, Science & research, Research, Mutation (Biology), Mutation, G proteins, Precocious puberty, Case study

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