Yak genome provides new insights into high altitude adaptation

July 5, 2012, Shenzhen, China – An international team, led by Lanzhou University, comprising BGI, the world's largest genomics organization, Institute of Kunming Zoology, Chinese Academy of Sciences as well as the other 12 institutes, has completed the genomic sequence and analyses of a female domestic yak, which provides important insights into understanding mammalian divergence and adaptation at high altitude. This study was recently published online in Nature Genetics. Scienceshot made a timely comment on yak genome themed "What gets yak high ?"

As an iconic symbol of Tibet and of high altitude, the yak (Bos grunniens) is the most important domesticated species for Tibetans living at high altitude in China's Qinghai Province, which could provide meat and other basic resources, such as milk, transportation, dried dung for fuel, and hides for tented accommodation. Yaks have many anatomical and physiological traits that enable them live at high altitude, including high metabolism, acute senses, impressive foraging ability, enlarged hearts and lungs, and a lack of blood vessel constriction in the lungs when faced with relatively low oxygen conditions.

In the study, researchers sequenced the genome of a female domestic yak using high-throughput sequencing technology. The genomic data yielded 2,657Mb draft yak genome assembly that had 65-fold coverage. They also conducted transcriptome sequencing on RNA samples derived from fresh heart, liver, brain, stomach, and lung tissues collected from the same yak. Based on the transcriptome data, researchers estimated that the yak genome contains 22,282 protein-coding genes and 2.2 million heterozygous SNPs.

In order to understand evolutionary adaptation of yak to the high-altitude, the team conducted the comparative genomic analyses between yak and cattle, a closely related animal that typically lives at much lower altitudes. Although the yak and cattle were estimated to have diverged around 4.9 million years ago, many of the yak and cattle genes have remained very similar, with the two animals sharing 45 percent protein identity and 99.5 percent protein similarity. However, they identified distinct gene expansions related to sensory perception and energy metabolism-related in yak.

In addition, researchers also found an enrichment of protein domains related to the extracellular environment and hypoxic stress. Especially, they found the orthologous genes in yak related to hypoxia and nutrition metabolism had undergone positively selected and rapid evolution. For example, they found three genes that may play important roles in regulating body's response to hypoxia, or oxygen deprivation, at high-altitudes, and five genes that were related with the optimization of the energy from the poor foods in the extreme plateau.

Researchers referred that the study on high-altitude adaptation may help to improve current understanding, treatment, and prevention of altitude sickness and other hypoxia-related diseases in humans. Moreover, the yak genome provided a valuable resource for accelerating the genetic improvement of milk and meat production of this important animal.

BGI was founded in Beijing, China on September 9th, 1999 with the mission of being a premier scientific partner to the global research community. The goal of BGI is to make leading-edge genomic science highly accessible through its investment in infrastructure that leverages the best available technology, economies of scale, and expert bioinformatics resources. BGI, and its affiliates, BGI Americas, based in Cambridge, MA and BGI Europe, based in Copenhagen. Denmark, have established partnerships and collaborations with leading academic and government research institutions as well as global biotechnology and pharmaceutical companies, supporting a variety of disease, agricultural, environmental, and related applications.

BGI has established a proven track record of excellence, delivering results with high efficiency and accuracy for innovative, high-profile research which has generated over 170 publications in top-tier journals such as Nature and Science. These accomplishments include sequencing one percent of the human genome for the International Human Genome Project, contributing 10 percent to the International Human HapMap Project, carrying out research to combat SARS and German deadly E. coli, playing a key role in the Sino-British Chicken Genome Project, and completing the sequence of the rice genome, the silkworm genome, the first Asian diploid genome, the potato genome, and, most recently, 1000 genomes and human Gut metagenome. For more information about BGI, please visit www.genomics.cn.