Whole-genome resequencing to investigate the genetic diversity and mechanisms of plateau adaptation in Tibetan sheep

Abstract

Tibetan sheep, economically important animals on the Qinghai–Tibet Plateau, have diversified into numerous local breeds with unique characteristics through prolonged environmental adaptation and selective breeding. However, most current research focuses on one or two breeds, and lacks a comprehensive representation of the genetic diversity across multiple Tibetan sheep breeds. This study aims to fill this gap by investigating the genetic structure, diversity and high-altitude adaptation of 6 Tibetan sheep breeds using whole-genome resequencing data. Six Tibetan sheep breeds were investigated in this study, and whole-genome resequencing data were used to investigate their genetic structure and population diversity. The results showed that the 6 Tibetan sheep breeds exhibited distinct separation in the phylogenetic tree; however, the levels of differentiation among the breeds were minimal, with extensive gene flow observed. Population structure analysis broadly categorized the 6 breeds into 3 distinct ecological types: plateau-type, valley-type and Euler-type. Analysis of unique single-nucleotide polymorphisms (SNPs) and selective sweeps between Argali and Tibetan sheep revealed that Tibetan sheep domestication was associated primarily with sensory and signal transduction, nutrient absorption and metabolism, and growth and reproductive characteristics. Finally, comprehensive analysis of selective sweep and transcriptome data suggested that Tibetan sheep breeds inhabiting different altitudes on the Qinghai–Tibet Plateau adapt by enhancing cardiopulmonary function, regulating body fluid balance through renal reabsorption, and modifying nutrient digestion and absorption pathways. In this study, we investigated the genetic diversity and population structure of 6 Tibetan sheep breeds in Qinghai Province, China. Additionally, we analyzed the domestication traits and investigated the unique adaptation mechanisms residing varying altitudes in the plateau region of Tibetan sheep. This study provides valuable insights into the evolutionary processes of Tibetan sheep in extreme environments. These findings will also contribute to the preservation of genetic diversity and offer a foundation for Tibetan sheep diversity preservation and plateau animal environmental adaptation mechanisms.