Human genetics of GPR54
Human genetics of GPR54
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DOI：
10.1007/s11154-007-9027-3
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发表时间：
2007-03-01
影响因子：
8.2
通讯作者：
Seminara, Stephanie B.
中科院分区：
文献类型：
--
作者：
Cerrato, Felecia;Seminara, Stephanie B.
特发性低促性腺激素性性腺功能减退症（IHH）是一种在低性类固醇和低/正常促性腺激素的情况下缺乏性成熟的疾病。尽管其罕见，相当大的遗传异质性和表型变异存在于这种疾病。G蛋白偶联受体GPR 54的功能缺失突变已被证明可导致IHH。虽然GPR 54突变不是这种疾病的常见原因，但携带突变的患者对于探索基因型-表型相关性和基因功能至关重要。在这篇综述中，我们将研究人类遗传学研究GPR 54，在这个基因中的突变的表型影响，和kisspeptin/GPR 54途径的新兴作用。
Idiopathic hypogonadotropic hypogonadism (IHH) is a condition characterized by absence of sexual maturation in the setting of low sex steroids and low/ normal gonadotropins. Despite its rarity, considerable genetic heterogeneity and phenotypic variability exists in this disorder. Loss of function mutations in a G protein coupled receptor, GPR54, have been shown to cause IHH. Although mutations in GPR54 are not a common cause of this condition, patients bearing mutations are critical to explore genotype-phenotype correlations and gene function. In this review, we will examine the human genetics studies of GPR54, the phenotypic implications of mutations in this gene, and the emerging roles of the kisspeptin/GPR54 pathway.