Animal Bioscience

  • 제36권1호
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  • Pages.29-42
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  • 2023
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  • 2765-0189(pISSN)
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  • 2765-0235(eISSN)
아세아태평양축산학회 (Asian Australasian Association of Animal Production Societies)
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Whole-genome sequence association study identifies cyclin dependent kinase 8 as a key gene for the number of mummified piglets

  • Pingxian, Wu (Chongqing Academy of Animal Sciences) ;
  • Dejuan, Chen (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Kai, Wang (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Shujie, Wang (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Yihui, Liu (Sichuan Animal Husbandry Station) ;
  • Anan, Jiang (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Weihang, Xiao (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Yanzhi, Jiang (College of Life Science, Sichuan Agricultural University) ;
  • Li, Zhu (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Xu, Xu (Sichuan Animal Husbandry Station) ;
  • Xiaotian, Qiu (National Animal Husbandry Service) ;
  • Xuewei, Li (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University) ;
  • Guoqing, Tang (Farm Animal Genetic Resources Exploration and Innovation Key Laboratory of Sichuan Province, Sichuan Agricultural University)
  • 투고 : 2022.03.22
  • 심사 : 2022.08.14
  • 발행 : 2023.01.01
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초록

Objective: Pigs, an ideal biomedical model for human diseases, suffer from about 50% early embryonic and fetal death, a major cause of fertility loss worldwide. However, identifying the causal variant remains a huge challenge. This study aimed to detect single nucleotide polymorphisms (SNPs) and candidate genes for the number of mummified (NM) piglets using the imputed whole-genome sequence (WGS) and validate the potential candidate genes. Methods: The imputed WGS was introduced from genotyping-by-sequencing (GBS) using a multi-breed reference population. We performed genome-wide association studies (GWAS) for NM piglets at birth from a Landrace pig populatiGWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase on. A total of 300 Landrace pigs were genotyped by GBS. The whole-genome variants were imputed, and 4,252,858 SNPs were obtained. Various molecular experiments were conducted to determine how the genes affected NM in pigs. Results: A strong GWAS peak located on SSC11: 0.10 to 7.11 Mbp (Top SNP, SSC11:1,889,658 bp; p = 9.98E-13) was identified in cyclin dependent kinase 8 (CDK8) gene, which plays a crucial role in embryonic retardation and lethality. Based on the molecular experiments, we found that Y-box binding protein 1 (YBX1) was a crucial transcription factor for CDK8, which mediated the effect of CDK8 in the proliferation of porcine ovarian granulosa cells via transforming growth factor beta/small mother against decapentaplegic signaling pathway, and, as a consequence, affected embryo quality, indicating that this pathway may be contributing to mummified fetal in pigs. Conclusion: A powerful imputation-based association study was performed to identify genes associated with NM in pigs. CDK8 was suggested as a functional gene for the proliferation of porcine ovarian granulosa cells, but further studies are required to determine causative mutations and the effect of loci on NM in pigs.

키워드

과제정보

This study was supported by grants from the Sichuan Science and Technology Program (2020YFN0024), the Sichuan Innovation Team of Pig (sccxtd-2021-08), Performance Incentive and Guidance Special Project of Scientific Research Organization of Chongqing Science and Technology Committee (cstc2021jxjl8001), Chongqing Special Financial Fund Project (22514C), the National key R&D Program of China #2018YFD0501204, the National Natural Science Foundation of China (31530073, C170102) and the Earmarked fund for the China Agriculture Research System (No. CARS-35-01A).

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