Global analysis of A-to-I RNA editing reveals association with common disease variants.
Global analysis of A-to-I RNA editing reveals association with common disease variants.
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DOI：
10.7717/peerj.4466
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发表时间：
2018
期刊：
影响因子：
2.7
通讯作者：
Björkegren JLM
中科院分区：
文献类型：
--
作者：
Franzén O;Ermel R;Sukhavasi K;Jain R;Jain A;Betsholtz C;Giannarelli C;Kovacic JC;Ruusalepp A;Skogsberg J;Hao K;Schadt EE;Björkegren JLM
RNA编辑修饰转录物，并可能改变其调节或功能。在人类中，最常见的修饰是腺苷到肌苷（A到I）。我们在4，301个人体组织样本中检查了RNA编辑的全局特征。在62%的蛋白质编码转录本中，发现了超过160万个A到I编辑。mRNA重编码是非常罕见的，只有11个新的重编码位点被发现。来自全基因组关联研究的30个单核苷酸多态性与RNA编辑相关;影响2型糖尿病的一个（rs 2028299）与ARPIN编辑相关。包括LRP 11和PLIN 5在内的25个基因具有与血脂水平相关的编辑位点。我们的发现为RNA编辑的遗传调控提供了新的见解，并为进一步探索这一过程建立了丰富的目录。
RNA editing modifies transcripts and may alter their regulation or function. In humans, the most common modification is adenosine to inosine (A-to-I). We examined the global characteristics of RNA editing in 4,301 human tissue samples. More than 1.6 million A-to-I edits were identified in 62% of all protein-coding transcripts. mRNA recoding was extremely rare; only 11 novel recoding sites were uncovered. Thirty single nucleotide polymorphisms from genome-wide association studies were associated with RNA editing; one that influences type 2 diabetes (rs2028299) was associated with editing in ARPIN. Twenty-five genes, including LRP11 and PLIN5, had editing sites that were associated with plasma lipid levels. Our findings provide new insights into the genetic regulation of RNA editing and establish a rich catalogue for further exploration of this process.
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DOI：
10.1093/bioinformatics/btu638
发表时间：
2015-01-15
期刊：
Bioinformatics (Oxford, England)
影响因子：
--
作者：
Anders S;Pyl PT;Huber W
通讯作者：
Huber W
影响因子：
4.6
作者：
Gorski M;van der Most PJ;Teumer A;Chu AY;Li M;Mijatovic V;Nolte IM;Cocca M;Taliun D;Gomez F;Li Y;Tayo B;Tin A;Feitosa MF;Aspelund T;Attia J;Biffar R;Bochud M;Boerwinkle E;Borecki I;Bottinger EP;Chen MH;Chouraki V;Ciullo M;Coresh J;Cornelis MC;Curhan GC;d'Adamo AP;Dehghan A;Dengler L;Ding J;Eiriksdottir G;Endlich K;Enroth S;Esko T;Franco OH;Gasparini P;Gieger C;Girotto G;Gottesman O;Gudnason V;Gyllensten U;Hancock SJ;Harris TB;Helmer C;Höllerer S;Hofer E;Hofman A;Holliday EG;Homuth G;Hu FB;Huth C;Hutri-Kähönen N;Hwang SJ;Imboden M;Johansson Å;Kähönen M;König W;Kramer H;Krämer BK;Kumar A;Kutalik Z;Lambert JC;Launer LJ;Lehtimäki T;de Borst M;Navis G;Swertz M;Liu Y;Lohman K;Loos RJF;Lu Y;Lyytikäinen LP;McEvoy MA;Meisinger C;Meitinger T;Metspalu A;Metzger M;Mihailov E;Mitchell P;Nauck M;Oldehinkel AJ;Olden M;Wjh Penninx B;Pistis G;Pramstaller PP;Probst-Hensch N;Raitakari OT;Rettig R;Ridker PM;Rivadeneira F;Robino A;Rosas SE;Ruderfer D;Ruggiero D;Saba Y;Sala C;Schmidt H;Schmidt R;Scott RJ;Sedaghat S;Smith AV;Sorice R;Stengel B;Stracke S;Strauch K;Toniolo D;Uitterlinden AG;Ulivi S;Viikari JS;Völker U;Vollenweider P;Völzke H;Vuckovic D;Waldenberger M;Jin Wang J;Yang Q;Chasman DI;Tromp G;Snieder H;Heid IM;Fox CS;Köttgen A;Pattaro C;Böger CA;Fuchsberger C
通讯作者：
Fuchsberger C
影响因子：
7
作者：
Harrow J;Frankish A;Gonzalez JM;Tapanari E;Diekhans M;Kokocinski F;Aken BL;Barrell D;Zadissa A;Searle S;Barnes I;Bignell A;Boychenko V;Hunt T;Kay M;Mukherjee G;Rajan J;Despacio-Reyes G;Saunders G;Steward C;Harte R;Lin M;Howald C;Tanzer A;Derrien T;Chrast J;Walters N;Balasubramanian S;Pei B;Tress M;Rodriguez JM;Ezkurdia I;van Baren J;Brent M;Haussler D;Kellis M;Valencia A;Reymond A;Gerstein M;Guigó R;Hubbard TJ
通讯作者：
Hubbard TJ
DOI：
10.1126/science.aad6970
发表时间：
2016-08-19
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Franzén O;Ermel R;Cohain A;Akers NK;Di Narzo A;Talukdar HA;Foroughi-Asl H;Giambartolomei C;Fullard JF;Sukhavasi K;Köks S;Gan LM;Giannarelli C;Kovacic JC;Betsholtz C;Losic B;Michoel T;Hao K;Roussos P;Skogsberg J;Ruusalepp A;Schadt EE;Björkegren JL
通讯作者：
Björkegren JL
影响因子：
64.5
作者：
Astle, William J.;Elding, Heather;Soranzo, Nicole
通讯作者：
Soranzo, Nicole