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人类黏附G蛋白偶联受体基因座处基因组特征的相关性

The Relevance of Genomic Signatures at Adhesion GPCR Loci in Humans.

作者信息

Kovacs Peter, Schöneberg Torsten

机构信息

Integrated Research and Treatment Center (IFB) AdiposityDiseases, Medical Faculty, University of Leipzig, Liebigstr. 21, Leipzig, 04103, Germany.

Institute of Biochemistry, Medical Faculty, University of Leipzig, Johannisallee 30, Leipzig, 04103, Germany.

出版信息

Handb Exp Pharmacol. 2016;234:179-217. doi: 10.1007/978-3-319-41523-9_9.

Abstract

Adhesion G protein-coupled receptors (aGPCRs) have a long evolutionary history dating back to very basal unicellular eukaryotes. Almost every vertebrate is equipped with a set of different aGPCRs. Genomic sequence data of several hundred extinct and extant species allows for reconstruction of aGPCR phylogeny in vertebrates and non-vertebrates in general but also provides a detailed view into the recent evolutionary history of human aGPCRs. Mining these sequence sources with bioinformatic tools can unveil many facets of formerly unappreciated aGPCR functions. In this review, we extracted such information from the literature and open public sources and provide insights into the history of aGPCR in humans. This includes comprehensive analyses of signatures of selection, variability of human aGPCR genes, and quantitative traits at human aGPCR loci. As indicated by a large number of genome-wide genotype-phenotype association studies, variations in aGPCR contribute to specific human phenotypes. Our survey demonstrates that aGPCRs are significantly involved in adaptation processes, phenotype variations, and diseases in humans.

摘要

粘附G蛋白偶联受体(aGPCRs)有着悠久的进化历史,可追溯到非常原始的单细胞真核生物。几乎每种脊椎动物都配备有一组不同的aGPCRs。数百种已灭绝和现存物种的基因组序列数据不仅有助于重建脊椎动物和非脊椎动物中aGPCR的系统发育,还能详细了解人类aGPCR的近期进化历史。利用生物信息学工具挖掘这些序列来源,可以揭示以前未被重视的aGPCR功能的许多方面。在本综述中,我们从文献和公开来源中提取了此类信息,并提供了对人类aGPCR历史的见解。这包括对选择特征、人类aGPCR基因变异性以及人类aGPCR基因座定量性状的综合分析。正如大量全基因组基因型-表型关联研究所表明的那样,aGPCR的变异会导致特定的人类表型。我们的调查表明,aGPCRs在人类的适应过程、表型变异和疾病中发挥着重要作用。

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