The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.
The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.
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DOI：
10.3390/ijms22179425
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发表时间：
2021-08-30
影响因子：
5.6
通讯作者：
Lettieri A
中科院分区：
文献类型：
--
作者：
Oleari R;Massa V;Cariboni A;Lettieri A
促性腺激素释放激素（GnRH）神经元是控制有性生殖的下丘脑神经内分泌细胞。在胚胎发育过程中，GnRH神经元从鼻子迁移到下丘脑，在那里它们接受来自几个传入神经元的输入，遵循由鼻神经形成的轴突支架。GnRH神经元发育的每一步都依赖于几个发挥特定生物学功能的分子的协调作用。编码这些必需分子的基因突变可能导致先天性促性腺功能减退症（CHH），这是一种罕见的疾病，以GnRH缺乏、青春期延迟和不育为特征。CHH致病基因根据其在GnRH神经元系统中的作用可分为神经发育基因和神经内分泌基因。CHH遗传的复杂性，结合多种遗传模式，导致CHH患者的极端表型变异性。在这篇综述中，我们的目的是通过剖析它们在GnRH系统中的生物学相关性以及它们在CHH发病机制中的功能相关性，提供迄今为止与CHH相关的基因的全面和最新描述。
Gonadotropin releasing hormone (GnRH) neurons are hypothalamic neuroendocrine cells that control sexual reproduction. During embryonic development, GnRH neurons migrate from the nose to the hypothalamus, where they receive inputs from several afferent neurons, following the axonal scaffold patterned by nasal nerves. Each step of GnRH neuron development depends on the orchestrated action of several molecules exerting specific biological functions. Mutations in genes encoding for these essential molecules may cause Congenital Hypogonadotropic Hypogonadism (CHH), a rare disorder characterized by GnRH deficiency, delayed puberty and infertility. Depending on their action in the GnRH neuronal system, CHH causative genes can be divided into neurodevelopmental and neuroendocrine genes. The CHH genetic complexity, combined with multiple inheritance patterns, results in an extreme phenotypic variability of CHH patients. In this review, we aim at providing a comprehensive and updated description of the genes thus far associated with CHH, by dissecting their biological relevance in the GnRH system and their functional relevance underlying CHH pathogenesis.
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影响因子：
5.8
作者：
Cassatella D;Howard SR;Acierno JS;Xu C;Papadakis GE;Santoni FA;Dwyer AA;Santini S;Sykiotis GP;Chambion C;Meylan J;Marino L;Favre L;Li J;Liu X;Zhang J;Bouloux PM;Geyter C;Paepe A;Dhillo WS;Ferrara JM;Hauschild M;Lang-Muritano M;Lemke JR;Flück C;Nemeth A;Phan-Hug F;Pignatelli D;Popovic V;Pekic S;Quinton R;Szinnai G;l'Allemand D;Konrad D;Sharif S;Iyidir ÖT;Stevenson BJ;Yang H;Dunkel L;Pitteloud N
通讯作者：
Pitteloud N
NELF敲除与青春期发育和差异性受损有关。
影响因子：
4.1
作者：
Quaynor, Samuel D.;Ko, Eun Kyung;Chorich, Lynn P.;Sullivan, Megan E.;Demir, Durkadin;Waller, Jennifer L.;Kim, Hyung-Goo;Cameron, Richard S.;Layman, Lawrence C.
通讯作者：
Layman, Lawrence C.
影响因子：
15.9
作者：
Ahmed, Kashan;LaPierre, Mary P.;Stoffel, Markus
通讯作者：
Stoffel, Markus
影响因子：
3.5
作者：
Cariboni, Anna;Davidson, Kathryn;Ruhrberg, Christiana
通讯作者：
Ruhrberg, Christiana
影响因子：
16.2
作者：
Bellon, Anais;Luchino, Jonathan;Mann, Fanny
通讯作者：
Mann, Fanny