| 论文题目: | Long-read Assembly of the Chinese Rhesus Macaque Genome and Identification of Ape-specific Structural Variants |
| 作者: | He Y, Luo X, Zhou B, Hu T, Meng X, Audano PA, Kronenberg ZN, Eichler EE, Jin J, Guo Y, Yang Y, Qi X, Su B |
| 联系作者: | sub@mail.kiz.ac.cn |
| 发表年度: | 2019 |
| DOI: | doi: 10.1038/s41467-019-12174-w |
| 摘要: | We present a high-quality de novo genome assembly (rheMacS) of the Chinese rhesus macaque (Macaca mulatta) using long-readsequencing 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-ape-specific 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 |
| 刊物名称: | Nature Communications |
| 论文出处: | https://www.nature.com/articles/s41467-019-12174-w |
| 影响因子: | 11.878(2018年) |
