文献类型： 外文期刊

作者： Li, Ying-Ju ¹ ; Liu, Hang ¹ ; Zhang, Yue-Dong ¹ ; Li, Aimin ⁶ ; Pu, Li-Xia ⁷ ; Gao, Yun ¹ ; Zhang, Shu-Run ¹ ; Otecko, Newton O. ¹ ; Liu, Lu ¹ ; Liu, Yu-Yan ³ ; Peng, Min-Sheng ¹ ; Irwin, David M. ⁹ ; Yi, Chungen ¹⁰ ; Xie, Wei ¹¹ ; Qin, Yan ¹² ; Wang, Zefeng ¹³ ; Wei, Hong-Jiang ¹ ; Zhou, Zhong-Yin ¹ ; Zhang, Ya-Ping ¹ ;

作者机构： 1.Chinese Acad Sci, Kunming Inst Zool, State Key Lab Genet Evolut & Anim Models, Kunming 650223, Yunnan, Peoples R China

2.Chinese Acad Sci, Yunnan Key Lab Mol Biol Domest Anim, Kunming Inst Zool, Kunming 650223, Yunnan, Peoples R China

3.Yunnan Univ, State Key Lab Conservat & Utilizat Bioresource Yun, Kunming 650091, Yunnan, Peoples R China

4.Yunnan Univ, Sch Life Sci, Kunming 650091, Yunnan, Peoples R China

5.Univ Chinese Acad Sci, Kunming Coll Life Sci, Kunming 650204, Yunnan, Peoples R China

6.Xian Univ Technol, Sch Comp Sci & Engn, Shaanxi Key Lab Network Comp & Secur Technol, Xian 710048, Shaanxi, Peoples R China

7.Chinese Acad Agr Sci, Lanzhou Univ, State Key Lab Anim Dis Control & Prevent, Lanzhou Vet Res Inst,Coll Vet Med, Lanzhou 730046, Gansu, Peoples R China

8.Anhui Univ, Inst Phys Sci & Informat Technol, Hefei 230601, Anhui, Peoples R China

9.Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5S 1A8, Canada

10.Beijing Weibang Yatai Planning Co Ltd, Beijing 100007, Peoples R China

11.Tsinghua Univ, Sch Life Sci, Ctr Stem Cell Biol & Regenerat Med, MOE Key Lab Bioinformat,THU PKU Ctr Life Sci, Beijing 100084, Peoples R China

12.Chinese Acad Sci, Inst Biophys, CAS Ctr Excellence Biomacromol, Beijing 100101, Peoples R China

13.Chinese Acad Sci, Univ Chinese Acad Sci, Beijing 100049, Peoples R China

14.Chinese Acad Sci, Shanghai Inst Nutr & Hlth, CAS Ctr Excellence Mol Cell Sci, Shanghai Key Lab Mol Androl, Shanghai, Peoples R China

15.Yunnan Agr Univ, State Key Lab Conservat & Utilizat Bioresources Yu, Kunming 650201, Yunnan, Peoples R China

16.Yunnan Agr Univ, Coll Vet Med, Kunming, Peoples R China

17.Chinese Acad Sci, Ctr Excellence Anim Evolut & Genet, Kunming 650223, Peoples R China

关键词： CircRNA; Allele specific circRNA; Intronic mutation; Cell proliferation

期刊名称：GENE （ 影响因子：2.4； 五年影响因子：2.8 ）

ISSN： 0378-1119

年卷期： 2025 年 946 卷

页码：

收录情况： SCI

摘要： Circular RNAs (circRNAs) are a large class of widely expressed RNAs with covalently closed continuous structures. However, it is currently unknown if circRNAs shows allele-specific expression, as are the consequences of genetic variation on their circularization efficiency and subsequent biological function. Here, we propose a novel pipeline, ASE-circRNA, to accurately quantify both circRNA and their related linear RNA for each allele, and then assess the allele-specificity of the expression of a circular RNA. We identified and analyzed allele-specific circRNAs from human tissue, as well as brains from reciprocal crosses between pairs of highly divergent strains of both mice and pigs by next generation sequencing. Droplet digital PCR (ddPCR) was used to confirm the circularization efficiency measured by next generation sequencing. We found that variation in intron sequences affect the circularization efficiency of circRNAs. Furthermore, we demonstrate that a circRNA, circHK1, regulates the expression of POLR2A to influence the rate of cell proliferation. Our study provides new insight into the molecular mechanisms impacted by variation in genome sequence in the origin of human disease and phenotype.