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A chromosome-scale reference genome and genome-wide genetic variations elucidate adaptation in yak.
Molecular Ecology Resources ( IF 7.7 ) Pub Date : 2020-08-03 , DOI: 10.1111/1755-0998.13236
Qiu-Mei Ji 1, 2 , Jin-Wei Xin 1, 2 , Zhi-Xin Chai 3 , Cheng-Fu Zhang 1, 2 , Yangla Dawa 1, 2 , Sang Luo 1, 2 , Qiang Zhang 1, 2 , Zhandui Pingcuo 1, 2 , Min-Sheng Peng 4 , Yong Zhu 1, 2 , Han-Wen Cao 1, 2 , Hui Wang 3 , Jian-Lin Han 5 , Jin-Cheng Zhong 3
Affiliation  

Yak is an important livestock animal for the people indigenous to the harsh, oxygen‐limited Qinghai‐Tibetan Plateau and Hindu Kush ranges of the Himalayas. The yak genome was sequenced in 2012, but its assembly was fragmented because of the inherent limitations of the Illumina sequencing technology used to analyse it. An accurate and complete reference genome is essential for the study of genetic variations in this species. Long‐read sequences are more complete than their short‐read counterparts and have been successfully applied towards high‐quality genome assembly for various species. In this study, we present a high‐quality chromosome‐scale yak genome assembly (BosGru_PB_v1.0) constructed with long‐read sequencing and chromatin interaction technologies. Compared to an existing yak genome assembly (BosGru_v2.0), BosGru_PB_v1.0 shows substantially improved chromosome sequence continuity, reduced repetitive structure ambiguity, and gene model completeness. To characterize genetic variation in yak, we generated de novo genome assemblies based on Illumina short reads for seven recognized domestic yak breeds in Tibet and Sichuan and one wild yak from Hoh Xil. We compared these eight assemblies to the BosGru_PB_v1.0 genome, obtained a comprehensive map of yak genetic diversity at the whole‐genome level, and identified several protein‐coding genes absent from the BosGru_PB_v1.0 assembly. Despite the genetic bottleneck experienced by wild yak, their diversity was nonetheless higher than that of domestic yak. Here, we identified breed‐specific sequences and genes by whole‐genome alignment, which may facilitate yak breed identification.
更新日期:2020-08-03
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