Dynamic Expression of Imprinted Genes in the Developing and Postnatal Pituitary Gland.
Dynamic Expression of Imprinted Genes in the Developing and Postnatal Pituitary Gland.
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DOI：
10.3390/genes12040509
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发表时间：
2021-03-30
期刊：
影响因子：
3.5
通讯作者：
Charalambous M
中科院分区：
文献类型：
--
作者：
Scagliotti V;Costa Fernandes Esse R;Willis TL;Howard M;Carrus I;Lodge E;Andoniadou CL;Charalambous M
在哺乳动物中，印记基因调节许多关键的内分泌过程，如生长、青春期的开始和母亲的生殖行为。人类印迹障碍是由遗传和表观遗传机制改变印迹基因的表达量而引起的。由于诊断的改进，越来越多的ID患者现在被识别并在其一生中进行监测。精液工作表明，ID有很强的内分泌成分，但印迹基因产物的发展和功能的下丘脑-垂体轴的贡献还没有得到很好的定义。出生后的内分泌过程依赖于脑垂体产生的激素。虽然已经描述了一些印记基因在垂体发育和功能中的作用，但迄今为止还没有尝试将这些基因的表达作为一类与这个重要器官的形成和功能联系起来。这一点很重要，因为ID显示出相当大的重叠，并且已知印记基因定义了与器官生长相关的转录网络。这方面的知识不足，部分是由于技术上的困难，在获得有用的转录组数据，从垂体，即其小尺寸在发展和成熟的细胞复杂性。在这里，我们利用胚胎阶段的高灵敏度RNA测序和单细胞RNA测序数据来描述垂体的印记转录组。在演唱会上，我们提供了一个全面的文献综述，目前的知识的印记基因在垂体激素途径的作用，以及这些如何与ID。我们提出了新的数据，牵连印记基因网络的发展中的腺体和干细胞室。此外，我们提出了新的作用，个别印迹基因的病因学的身份证。最后，我们描述了动态调节的印记基因在垂体的怀孕母亲，与产妇的代谢适应怀孕的调节的影响。
In mammals, imprinted genes regulate many critical endocrine processes such as growth, the onset of puberty and maternal reproductive behaviour. Human imprinting disorders (IDs) are caused by genetic and epigenetic mechanisms that alter the expression dosage of imprinted genes. Due to improvements in diagnosis, increasing numbers of patients with IDs are now identified and monitored across their lifetimes. Seminal work has revealed that IDs have a strong endocrine component, yet the contribution of imprinted gene products in the development and function of the hypothalamo-pituitary axis are not well defined. Postnatal endocrine processes are dependent upon the production of hormones from the pituitary gland. While the actions of a few imprinted genes in pituitary development and function have been described, to date there has been no attempt to link the expression of these genes as a class to the formation and function of this essential organ. This is important because IDs show considerable overlap, and imprinted genes are known to define a transcriptional network related to organ growth. This knowledge deficit is partly due to technical difficulties in obtaining useful transcriptomic data from the pituitary gland, namely, its small size during development and cellular complexity in maturity. Here we utilise high-sensitivity RNA sequencing at the embryonic stages, and single-cell RNA sequencing data to describe the imprinted transcriptome of the pituitary gland. In concert, we provide a comprehensive literature review of the current knowledge of the role of imprinted genes in pituitary hormonal pathways and how these relate to IDs. We present new data that implicate imprinted gene networks in the development of the gland and in the stem cell compartment. Furthermore, we suggest novel roles for individual imprinted genes in the aetiology of IDs. Finally, we describe the dynamic regulation of imprinted genes in the pituitary gland of the pregnant mother, with implications for the regulation of maternal metabolic adaptations to pregnancy.
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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
影响因子：
11.4
作者：
Brunn, GJ;Williams, J;Abraham, RT
通讯作者：
Abraham, RT
影响因子：
3.9
作者：
Brioude, Frederic;Netchine, Irene;Rossignol, Sylvie
通讯作者：
Rossignol, Sylvie
影响因子：
7
作者：
Baran Y;Subramaniam M;Biton A;Tukiainen T;Tsang EK;Rivas MA;Pirinen M;Gutierrez-Arcelus M;Smith KS;Kukurba KR;Zhang R;Eng C;Torgerson DG;Urbanek C;GTEx Consortium;Li JB;Rodriguez-Santana JR;Burchard EG;Seibold MA;MacArthur DG;Montgomery SB;Zaitlen NA;Lappalainen T
通讯作者：
Lappalainen T
影响因子：
30.8
作者：
Arboleda VA;Lee H;Parnaik R;Fleming A;Banerjee A;Ferraz-de-Souza B;Délot EC;Rodriguez-Fernandez IA;Braslavsky D;Bergadá I;Dell'Angelica EC;Nelson SF;Martinez-Agosto JA;Achermann JC;Vilain E
通讯作者：
Vilain E