Oct.30,2019 -- The quality evaluation and structural variants analysis of the genome ZF1.[Photo provided by Kunming Institute of Zoology, Chinese Academy of Sciences]

 

The reference genome helps scientists analyze the element data set of Tibetan genome structural variation.

 

Tibetans’ adaptation to hypoxia is a typical example of humans’ adaptive evolution. Previous researches on Tibetans’ adaptation to plateau focused on Single Nucleotide Variants (SNVs) and found two important genes, EPAS1 and EGLN1. The two genes account for relatively low haemoglobin concentration of Tibetans, which partly explains Tibetans’ adaptation to plateau. Nevertheless, other features of Tibetans’ adaptation to plateau such as high ventilation and low pulmonary arterial pressure couldn’t be explained by the SNVs. 

 

The Structural Variants (SVs) on the genome might affect adjustments of chromatin spatial structure and genes. In order to study whether SVs is related to adaptation to plateau, researchers assembled a high-resolution Tibetan reference genome, ZF1. Researchers found the lack of 163bp on the intron in gene MKL1 is obviously related to low pulmonary arterial pressure of Tibetans and the frequencies of the lack in Tibetans and in Han population show striking differences.

 

Researchers evaluated the genes fragments shared by the genomes of Tibetans and ancient people. The insertion of 662bp on the intron in gene SCUBE2 is more frequently found in Tibetans and is noticeably related to the functions of Tibetan lungs. The research results will facilitate further studies on Tibetans’ adaptation to plateau.