A Novel 6-bp Repeat Unit (6-bp RU) of the 13th Intron Within the Conserved EPAS1 Gene in Plateau Pika Is Capable of Altering Enhancer Activity
文献类型：期刊论文
| 作者 | Tang, Qi; Xu, Yuhui; Song, Qingchuan; Cao, Siqi; Li, Yang; Lan, Xianyong; Zhang, Liangzhi; Pan, Chuanying |
| 刊名 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
 |
| 出版日期 | 2025 |
| 卷号 | 26期号:5 |
| 关键词 | plateau pika EPAS1 gene indel enhancer transcription factor |
| 英文摘要 | The plateau pika (pl-pika), a resilient mammal of the Qinghai-Tibet Plateau, exhibits remarkable adaptations to extreme conditions. This study delves into mutations within the Endothelial PAS Domain Protein 1 (EPAS1) gene, crucial for high-altitude survival. Surprisingly, a novel 6-bp insertion/deletion (indel) mutation in EPAS1's Intron 13, along with an additional repeat unit downstream, was discovered during PCR amplification. Genetic analysis across altitude gradients revealed a correlation between this indel's frequency and altitude, hinting at its role in altitude adaptation. Fluorescence enzyme assays unveiled enhancer activity within Intron 13, where the deletion of repeat units led to increased activity, indicating potential transcription factor binding. Notably, GCM1 emerged as a candidate transcription factor binding to the indel site, suggesting its involvement in EPAS1 regulation. These findings enrich our comprehension of high-altitude adaptation in plateau pikas, shedding light on the intricate interplay between genetic mutations, transcriptional regulation, and environmental pressures in evolutionary biology. |
| 源URL | [http://210.75.249.4/handle/363003/62514]  |
| 专题 | 西北高原生物研究所_中国科学院西北高原生物研究所 |
| 推荐引用方式 GB/T 7714 | Tang, Qi,Xu, Yuhui,Song, Qingchuan,et al. A Novel 6-bp Repeat Unit (6-bp RU) of the 13th Intron Within the Conserved EPAS1 Gene in Plateau Pika Is Capable of Altering Enhancer Activity[J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,2025,26(5). |
| APA | Tang, Qi.,Xu, Yuhui.,Song, Qingchuan.,Cao, Siqi.,Li, Yang.,...&Pan, Chuanying.(2025).A Novel 6-bp Repeat Unit (6-bp RU) of the 13th Intron Within the Conserved EPAS1 Gene in Plateau Pika Is Capable of Altering Enhancer Activity.INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,26(5). |
| MLA | Tang, Qi,et al."A Novel 6-bp Repeat Unit (6-bp RU) of the 13th Intron Within the Conserved EPAS1 Gene in Plateau Pika Is Capable of Altering Enhancer Activity".INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 26.5(2025). |
入库方式： OAI收割
来源：西北高原生物研究所
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