TY  - JOUR
A1  - Cao, Shuo
A1  - Zhu, Haoran
A1  - Cui, Jinru
A1  - Liu, Sun
A1  - Li, Yuhe
A1  - Shi, Junfang
A1  - Mo, Junyuan
A1  - Wang, Zihan
A1  - Wang, Hailan
A1  - Hu, Jiaxin
A1  - Chen, Lizhi
A1  - Li, Yuan
A1  - Xia, Laixin
A1  - Xiao, Shan
T1  - Allele-specific RNA N6-methyladenosine modifications reveal functional genetic variants in human tissues
Y1  - 2023/08/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 1369 
EP  - 1380 
DO  - 10.1101/gr.277704.123 
VL  - 33 
IS  - 8 
UR  - http://genome.cshlp.org/content/33/8/1369.abstract 
N2  - An intricate network of cis- and trans-elements acts on RNA N6-methyladenosine (m6A), which in turn may affect gene expression and, ultimately, human health. A complete understanding of this network requires new approaches to accurately measure the subtle m6A differences arising from genetic variants, many of which have been associated with common diseases. To address this gap, we developed a method to accurately and sensitively detect transcriptome-wide allele-specific m6A (ASm6A) from MeRIP-seq data and applied it to uncover 12,056 high-confidence ASm6A modifications from 25 human tissues. We also identified 1184 putative functional variants for ASm6A regulation, a subset of which we experimentally validated. Importantly, we found that many of these ASm6A-associated genetic variants were enriched for common disease–associated and complex trait–associated risk loci, and verified that two disease risk variants can change m6A modification status. Together, this work provides a tool to detangle the dynamic network of RNA modifications at the allelic level and highlights the interplay of m6A and genetics in human health and disease. 
ER  -