Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.
Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.
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DOI：
10.1055/s-0039-3400965
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发表时间：
2019-07
影响因子：
2.7
通讯作者：
Kaiser UB
中科院分区：
文献类型：
--
作者：
Naulé L;Kaiser UB
青春期是发育的关键时期，受遗传、营养和环境因素的调节。Makorin环指蛋白3（MKRN3）在调节青春期时间的作用，揭示了当功能丧失突变被确定在中枢性早熟（CPP）患者。迄今为止，MKRN3突变是CPP最常见的已知遗传原因。MKRN 3是泛素连接酶makorin家族的成员，与MKRN 1和MKRN 2一起。Mkrn基因在脊椎动物和无脊椎动物中都有发现，其基因和蛋白质结构具有高度的进化保守性。虽然存在的Mkrn直系同源物在广泛的物种表明一个重要的细胞作用的makorins，他们的青春期启动和内分泌功能的作用才刚刚开始被调查。在这篇综述中，我们讨论了最近的研究表明，Mkrn3和其他makorins参与调节青春期发育和其他内分泌功能，包括代谢和生育，以及其潜在的作用机制。
Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-of-function mutations were identified in patients with central precocious puberty (CPP). To date, MKRN3 mutations are the most common known genetic cause of CPP. MKRN3 is a member of the makorin family of ubiquitin ligases, together with MKRN1 and MKRN2. The Mkrn genes have been identified in both vertebrates and invertebrates and show high evolutionary conservation of their gene and protein structures. While the existence of Mkrn orthologues in a wide spectrum of species suggests a vital cellular role of the makorins, their role in puberty initiation and endocrine functions is just beginning to be investigated. In this review, we discuss recent studies that have shown the involvement of Mkrn3 and other makorins in the regulation of pubertal development and other endocrine functions, including metabolism and fertility, as well as their underlying mechanisms of action.
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由印记基因MKRN3突变引起的中央早熟青春期。
DOI：
10.1056/nejmoa1302160
发表时间：
2013-06-27
期刊：
The New England journal of medicine
影响因子：
--
作者：
Abreu AP;Dauber A;Macedo DB;Noel SD;Brito VN;Gill JC;Cukier P;Thompson IR;Navarro VM;Gagliardi PC;Rodrigues T;Kochi C;Longui CA;Beckers D;de Zegher F;Montenegro LR;Mendonca BB;Carroll RS;Hirschhorn JN;Latronico AC;Kaiser UB
通讯作者：
Kaiser UB
DOI：
10.1038/nrendo.2009.177
发表时间：
2009-10
期刊：
Nature reviews. Endocrinology
影响因子：
--
作者：
通讯作者：
--
影响因子：
2.7
作者：
Grandone A;Cantelmi G;Cirillo G;Marzuillo P;Luongo C;Miraglia del Giudice E;Perrone L
通讯作者：
Perrone L
DOI：
10.1073/pnas.1834399100
发表时间：
2003-09-16
影响因子：
11.1
作者：
de Roux, N;Genin, E;Milgrom, E
通讯作者：
Milgrom, E
影响因子：
13.3
作者：
Avendano, S.;Vazquez, M. J.;Tena-Sempere, M.
通讯作者：
Tena-Sempere, M.