Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection

KIZ OpenIR > 科研部门 > 比较基因组学（宿兵）

	Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection
	Zhang, Hui; Fu, Qiang; Shi, Xinrui; Pan, Ziqing; Yang, Wenbing; Huang, Zichao; Tang, Tian; He, Xionglei; Zhang, Rui
	2020
发表期刊	GENOME BIOLOGY
ISSN	1474-760X
卷号	21 期号:1
摘要	Background Adenosine-to-inosine (A-to-I) RNA editing plays important roles in diversifying the transcriptome and preventing MDA5 sensing of endogenous dsRNA as nonself. To date, few studies have investigated the population genomic signatures of A-to-I editing due to the lack of editing sites overlapping with SNPs. Results In this study, we applied a pipeline to robustly identify SNP editing sites from population transcriptomic data and combined functional genomics, GWAS, and population genomics approaches to study the function and evolution of A-to-I editing. We find that the G allele, which is equivalent to edited I, is overrepresented in editing SNPs. Functionally, A/G editing SNPs are highly enriched in GWAS signals of autoimmune and immune-related diseases. Evolutionarily, derived allele frequency distributions of A/G editing SNPs for both A and G alleles as the ancestral alleles are skewed toward intermediate frequency alleles relative to neutral SNPs, a hallmark of balancing selection, suggesting that both A and G alleles are functionally important. The signal of balancing selection is confirmed by a number of additional population genomic analyses. Conclusions We uncovered a hidden layer of A-to-I RNA editing SNP loci as a common target of balancing selection, and we propose that the maintenance of such editing SNP variations may be at least partially due to constraints on the resolution of the balance between immune activity and self-tolerance.
收录类别	sci
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/12788
专题	科研部门_比较基因组学（宿兵）
推荐引用方式 GB/T 7714	Zhang, Hui,Fu, Qiang,Shi, Xinrui,et al. Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection[J]. GENOME BIOLOGY,2020,21(1).
APA	Zhang, Hui.,Fu, Qiang.,Shi, Xinrui.,Pan, Ziqing.,Yang, Wenbing.,...&Zhang, Rui.(2020).Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection.GENOME BIOLOGY,21(1).
MLA	Zhang, Hui,et al."Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection".GENOME BIOLOGY 21.1(2020).

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