| Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants |
| He, YX; Luo, X; Zhou, B; Hu, T; Meng, XY; Audano, PA; Kronenberg, ZN; Eichler, EE; Jin, J; Guo, YB; Yang, YN; Qi, XB ; Su, B
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| 2019
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| 发表期刊 | NATURE COMMUNICATIONS
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| ISSN | 2041-1723
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| 卷号 | 10 |
| 摘要 | We present a high-quality de novo genome assembly (rheMacS) of the Chinese rhesus macaque (Macaca mulatta) using long-read sequencing and multiplatform scaffolding approaches. Compared to the current Indian rhesus macaque reference genome (rheMac8), rheMacS increases sequence contiguity 75-fold, closing 21,940 of the remaining assembly gaps (60.8 Mbp). We improve gene annotation by generating more than two million full-length transcripts from ten different tissues by long-read RNA sequencing. We sequence resolve 53,916 structural variants (96% novel) and identify 17,000 ape-specific structural variants (ASSVs) based on comparison to ape genomes. Many ASSVs map within ChIP-seq predicted enhancer regions where apes and macaque show diverged enhancer activity and gene expression. We further characterize a subset that may contribute to ape- or great-apespecific phenotypic traits, including taillessness, brain volume expansion, improved manual dexterity, and large body size. The rheMacS genome assembly serves as an ideal reference for future biomedical and evolutionary studies. |
| 收录类别 | sci
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| 语种 | 英语
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| 文献类型 | 期刊论文
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| 条目标识符 | http://ir.kiz.ac.cn/handle/152453/13532
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| 专题 | 科研部门_比较基因组学（宿兵）
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推荐引用方式
GB/T 7714 |
He, YX,Luo, X,Zhou, B,et al. Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants[J]. NATURE COMMUNICATIONS,2019,10.
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| APA |
He, YX.,Luo, X.,Zhou, B.,Hu, T.,Meng, XY.,...&Su, B.(2019).Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants.NATURE COMMUNICATIONS,10.
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| MLA |
He, YX,et al."Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants".NATURE COMMUNICATIONS 10(2019).
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