Details

Autor(en) / Beteiligte

• He, Yaoxi
• Luo, Xin
• Zhou, Bin
• Hu, Ting
• Meng, Xiaoyu
• Audano, Peter A
• Kronenberg, Zev N
• Eichler, Evan E
• Jin, Jie
• Guo, Yongbo
• Yang, Yanan
• Qi, Xuebin
• Su, Bing

Titel

Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants

Ist Teil von

• Nature communications, 2019-09, Vol.10 (1), p.4233-14, Article 4233

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2019

Link zum Volltext

Quelle

Electronic Journals Library - Freely accessible e-journals

Beschreibungen/Notizen

• 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-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.