ORIGINAL RESEARCH article

Front. Vet. Sci.

Sec. Livestock Genomics

Volume 12 - 2025 | doi: 10.3389/fvets.2025.1605252

This article is part of the Research TopicAdvances in Livestock Genetics: Enhancing Breeding Practices and Improving Animal HealthView all 12 articles

Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments

Provisionally accepted
Dehong  TianDehong Tian1Buying  HanBuying Han1Xue  LiXue Li1Quanbang  PeiQuanbang Pei2Baicheng  ZhouBaicheng Zhou3Kai  ZhaoKai Zhao1*
  • 1Northwest Institute of Plateau Biology, Chinese Academy of Sciences (CAS), Xining, China
  • 2Qinghai Sheep Breeding and Promotion Service Center, qinghai, China
  • 3Qinghai Yak Breeding and Promotion Service Center, qinghai, China

The final, formatted version of the article will be published soon.

Under the combined effects of long-term natural selection and artificial domestication, Tibetan sheep on the Qinghai-Tibet Plateau have evolved distinct ecotypes to survive extreme high-altitude conditions, including hypoxia, cold, and low oxygen levels. These ecotypic variations not only serve as an ideal model for studying plateau livestock adaptation but also harbor valuable genetic diversity. However, the lack of comprehensive genetic analyses on their adaptive and phenotypic traits has hindered the effective conservation and utilization of these resources. Using wholegenome resequencing, we systematically studied seven Tibetan sheep breeds, uncovering their genetic structure and diversity. Population analyses, including NJ and maximum likelihood trees, revealed clear genetic differentiation and migration patterns. Selective sweep analyses (Fst and θπ) identified hypoxia-related genes (DOCK8, IGF1R, JAK1, SLC47, TMTC2, VPS13A) and wool color genes (TCF25, MITF, MC1R).GWAS further detected candidate genes for body size traits (height, length, weight), enriched in cGMP-PKG, cAMP, and Hedgehog signaling pathways. Integrating GWAS and transcriptomics, we pinpointed key wool trait genes, including WNT16 (non-synonymous mutations), PRKCA, MAP3K8, MMP7, OVOL2 (intergenic SNPs), and COL7A1, KDM8, ZNF385D (intronic SNPs). Notably, HOX family transcription factors were found to critically regulate hair follicle development. These genetic markers offer promising targets for molecular breeding to enhance wool quality and adaptive traits. Our findings provide a genetic basis for understanding Tibetan sheep's unique adaptations and production traits, supporting future breeding strategies and sustainable utilization of their genetic resources.

Keywords: Indigenous breeds, GWAS, Hypoxic adaptability, production, Transcriptome

Received: 03 Apr 2025; Accepted: 22 May 2025.

Copyright: © 2025 Tian, Han, Li, Pei, Zhou and Zhao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Kai Zhao, Northwest Institute of Plateau Biology, Chinese Academy of Sciences (CAS), Xining, China

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