Bioinformatics Analysis of Whole Genome Sequencing Data to Estimation of Genomic Inbreeding Coefficient and Identification of Runs of Homozygosity Islands in Pekin Duck

Document Type : Research Articles

Authors

1 Department of Animal Sciences, Faculty of Agriculture and Natural Resources, Arak University, Arak, Iran.

2 Department of Animal Sciences, Faculty of Agriculture and Natural Resources, Arak University, Arak, Iran.n

Abstract

Introduction: Ducks are more resilient to unfavorable environmental conditions than other poultry, making them less susceptible to disease. They are easy to raise and exhibit rapid growth. To meet the needs of industrial duck production, it is essential to develop meat, egg, and dual-purpose strains. This will help determine breeding costs and ensure the productivity required by the industry. High weight gain, a lower food conversion ratio, more eggs, and high egg fertility are the four main ways that the breeding population and herds should be taken into consideration, in accordance with the significance of the economic coefficients of breeding and the relative selection of the product. Designing breeding programs for ducks requires first identifying the genomic region linked to economic traits in duck populations. The management and breeding sciences should pay attention to the negative correlation coefficient with the egg production trait because a rise in one trait will result in a fall in the values of another trait. Molecular biology and biotechnology have made significant strides in recent years, giving researchers a potent tool for studying animal genetics. Decoding the genome information of this species has been made possible by powerful tools like next-generation sequencing technology. Following one another is known as a run of homozygosity (ROH). In light of this research, the current study sought to use whole genome sequencing data to identify the loci linked to the duck's egg production trait by performing an inbreeding coefficient, identifying the ROH Islands, and performing a functional analysis based on gene-set enrichment analysis.
Materials and Methods: There were 581 purebred Peking ducks used in this study. The animals hatched from the same batch and are of the same strain. Pronase was used to extract genomic DNA. A wavelength of 260 nm was used to measure the amount and concentration of DNA, and a wavelength ratio of 260/280 was used to assess the purity and quality of the extracted DNA. All of this information was obtained using a spectrophotometer. On the DNBSEQ-T7 platform, this DNA sample was subjected to whole-genome resequencing using a 150 bp paired-end read strategy and an average sequencing depth of 2.06×. To conduct additional analysis, the acquired reads were compared to the reference genome of the mallard duck. Using VCFtools (--min-alleles 2, --max-alleles 2) and PLINK (--geno 0.05 --maf 0.01 --mind 0.05), we implemented quality control to guarantee data quality. 581 individuals and 1,111,649 SNPs were retained for additional analysis following quality control. Run of homozygosity (FROH) was used to compute the inbreeding coefficient using the PLINK 1.9 program. A ROH Island was defined as one percent of the SNPs with the highest frequency in ROH. Assigning SNPs to genes, assigning genes to functional categories, and then analyzing the relationships between each functional category and the desired phenotype comprise the three main steps of gene set analysis analysis. To assign the genes to functions, a gene enrichment analysis was finally carried out using the KOBAS software.
Results and Discussion: Based on FROH, the average pekin duck inbreeding coefficient was 0.204. There were 82,253 ROH segments found in all, with an average of 141 point 50 segments per person. ROH that consisted primarily of shorter segments (1–2 Mb) made up roughly 77–85% of all ROH. The larger ROH (>2 Mb) class, on the other hand, only made up 22–15% of all ROH segments. Chromosome 1 exhibited the highest ROH (Runs of Homozygosity) value, while chromosome 31 showed the lowest. The 91 identified ROH islands covered less than 1% of the sheep genome, with lengths ranging from 1.60 to 13 Mb. These ROH islands were located across nine genomic regions on chromosomes 1, 2, 3, 4, 5, 8, 13, 29, and 35. In this study, we discovered several sets of candidate genes associated with the duck egg production trait: COL1A2, FCHSD2, DAZAP1, and NSG1. Pathway analysis revealed that the egg production trait was linked to ten biological and gene ontology pathways. Certain genes were discovered to be involved in biological pathways linked to skeletal muscle growth and development, positive regulation of skeletal muscle fiber development, negative regulation of negative chemotaxis, release of sequestered calcium ions into the cytosol, and cellular response to hormone stimulus. These findings are in line with some earlier research. taking into account that the economic coefficient of duck egg production is very significant and more significant than the weight increase of breeding ducks and economic activity.
Conclusion: The findings of this study showed that the Pekin duck breed's selection processes for economic traits over a number of years have resulted in the formation of numerous ROH islands in the duck genome. As a result, scanning these regions at the genome level may be an alternate method of identifying genes and related loci with economic traits. Additionally, our findings aid in the design and implementation of breeding and conservation strategies for study ducks, as well as the understanding of genetic diversity and population demography.

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Main Subjects


©2023 The author(s). This is an open access article distributed under Creative Commons Attribution 4.0 International License (CC BY 4.0), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source.

  1. Addo, S., Klingel, S., Thaller, G., & Hinrichs, D. (2021). Genetic diversity and the application of runs of homozygosity-based methods for inbreeding estimation in German White-headed Mutton sheep. PLoS One, 16, e0250608. https://doi.org/10.1371/journal.pone.0250608
  2. Almamun, H. A., Clark, S. A., Kwan, P., & Gondro, C. (2015). Genome-wide linkage disequilibrium and genetic diversity in five populations of Australian domestic sheep. Genetic Selection Evolution, 47, 90. https://doi.org/10.1186/s12711-015-0169-6  
  3. Cádiz, M. I., Tengstedt, A. N. B., Sørensen, I. H., Pedersen, E. S., Fox, A. D., & Hansen, M. M. (2024). Demographic history and inbreeding in two declining sea duck species inferred from whole-genome sequence data. Evolutionary Applications, 17(9), e70008. https://doi.org/10.1111/eva.70008  
  4. Chen, X., Sun, X., Chimbaka, I. M., Qin, N., Xu, X., Liswaniso, S., Xu, R., & Gonzalez, J. M. (2021). Transcriptome analysis of ovarian follicles reveals potential pivotal genes associated with increased and decreased rates of chicken egg production. Frontiers in Genetics, 12, 622751. https://doi.org/10.3389/fgene.2021.622751
  5. Curik, I., Ferenčaković, M., & Sölkner, J. (2014). Inbreeding and runs of homozygosity: A possible solution to an old problem. Livestock Science, 166, 26-34. https://doi.org/10.1016/j.livsci.2014.05.034
  6. Eydivandi, S., Roudbar, M. A., Karimi, M. O., & Sahana, G. (2021). Genomic scans for selective sweeps through haplotype homozygosity and allelic fixation in 14 indigenous sheep breeds from Middle East and South Asia. Scientific Reports, 11(1), 2834. https://doi.org/10.1038/s41598-021-82625-2
  7. Gomez-Raya, L., Rodríguez, C., Barragán, C., & Silió, L. (2015). Genomic inbreeding coefficients based on the distribution of the length of runs of homozygosity in a closed line of Iberian pigs. Genetic Selection Evolution, 47,81. https://doi.org/10.1186/s12711-015-0153- 1
  8. Kroger, C. A., Lee, W., Fraley, G. S., Brito, L. F., & Karcher, D. (2024). Genetic parameters for egg quality traits in Pekin ducks. Poulty Science, 103(12), 104264. https://doi.org/10.1016/j.psj.2024.104264 . Epub ahead of print. 
  9. Li, T., Wang, Y., Zhang, Z., Ji, C., Zheng, N., & Huang, Y. (2024). A comparative analysis reveals the genomic diversity among 8 Muscovy duck populations. G3 (Bethesda), 14(7), jkae112. https://doi.org/10.1093/g3journal/jkae112
  10. Lin, R., Li, J., Yang, Y., Yang, Y., Chen, J., Zhao, F., & Xiao, T. (2022). Genome-wide population structure analysis and genetic diversity detection of four Chinese indigenous duck breeds from Fujian province. Animals (Basel), 12(17), 2302. https://doi.org/10.3390/ani12172302
  11. Lin, R., Li, H., Lin, W., Yang, F., Bao, X., Pan, C., Lai, L., & Lin, W. (2024). Whole-genome selection signature differences between Chaohu and Ji'an red ducks. BMC Genomics, 25(1), 522. https://doi.org/10.1186/s12864-024-10339-6
  12. Liu, H., Wang, L., Guo, Z., Xu, Q., Fan, W., Xu, Y., Hu, J., Zhang, Y., Tang, J., Xie, M., Zhou, Z., & Hou, S. (2021a). Genome-wide association and selective sweep analyses reveal genetic loci for FCR of egg production traits in ducks. Genetic Selection Evolution, 53(1), 98. https://doi.org/10.1186/s12711-021-00684-5
  13. Liu, J., Shi, L., Li, Y., Chen, L., Garrick, D., Wang, L., & Zhao, F. (2021b). Estimates of genomic inbreeding and identification of candidate regions that differ between Chinese indigenous sheep breeds. Journal of Animal Science and Biotechnology, 12(1), 95. https://doi.org/10.1186/s40104-021-00608-9
  14. Machová, K., Marina, H., Arranz, J. J., Pelayo, R., Rychtářová, J., Milerski, M., Vostrý, L., & Suárez-Vega, A. (2023). Genetic diversity of two native sheep breeds by genome-wide analysis of single nucleotide polymorphisms. Animal, 17(1), 100690. https://doi.org/10.1016/j.animal.2022.100690 . Epub 2022 Dec 1
  15. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., & Daly, M. (2010). The genome analysis toolkit: A MapReduce framework for analyzin next-generation DNA sequencing data. Genome Research, 20, 1297–1303. https://doi.org/10.1101/gr.107524.110 . Epub 2010 Jul 19
  16. Oluwagbenga, E. M., Tetel, V., Schober, J., & Fraley, G. S. (2022). Chronic heat stress part 1: Decrease in egg quality, increase in cortisol levels in egg albumen, and reduction in fertility of breeder Pekin ducks. Frontiers in Physiology, 13, 1019741. https://doi.org/10.3389/fphys.2022.1019741
  17. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A., Bender, D., Maller, J., Sklar, P., de Bakker, P. I., & Daly, M. J. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. The American Journal of Human Genetics, 81, 559–575. https://doi.org/10.1086/519795
  18. Shen, Z., Zhang, T., Twumasi, G., Zhang, J., Wang, J., Xi, Y., Wang, R., Wang, J., Zhang, R., & Liu, H. (2024). Genetic analysis of a Kaijiang duck conservation population through genome-wide scan. British Poultry Science, 65(4), 378-386. https://doi.org/10.1080/00071668.2024.2335937
  19. Sun, Y., Li, Y., Jiang, X., Wu, Q., Lin, R., Chen, H., Zhang, M., Zeng, T., Tian, Y., Xu, E., Zhang, Y., & Lu, L. (2024). Genome-wide association study identified candidate genes for egg production traits in the Longyan Shan-ma duck. Poultry Science, 103(9), 104032. https://doi.org/10.1016/j.psj.2024.104032 . Epub 2024 Jun 27
  20. Tian, S., Tang, W., Zhong, Z., Wang, Z., Xie, X., Liu, H., Chen, F., Liu, J., Han, Y., Qin, Y., Tan, Z., & Xiao, Q. (2023). Identification of runs of homozygosity islands and functional variants in Wenchang chicken. Animals (Basel), 13(10), 1645. https://doi.org/10.3390/ani13101645
  21. Walugembe, M., Bertolini, F., & Dematawewa, C. M. B. (2019). Detection of selection signatures among Brazilian, Sri Lankan, and Egyptian chicken populations under different environmental conditions. Frontiers in Genetics, 9, 737. https://doi.org/10.3389/fgene.2018.00737
  22. Xu, W., Wang, Z., Qu, Y., Li, Q., Tian, Y., Chen, L., Tang, J., Li, C., Li, G., Shen, J., Tao, Z., Cao, Y., Zeng, T., & Lu, L. (2022). Genome-wide association studies and haplotype-sharing analysis targeting the egg production traits in Shaoxing duck. Frontiers in Genetics, 13, 828884. https://doi.org/10.3389/fgene.2022.828884
  23. Yang, Z., Xi, Y., Qi, J., Li, L., Bai, L., Zhang, J., Lv, J., Li, B., & Liu, H. (2024). Genome-wide association studies reveal the genetic basis of growth and carcass traits in Sichuan Shelduck. Poultry Science, 103(11), 104211. https://doi.org/10.1016/j.psj.2024.104211 . Epub 2024 Aug 14 
  24. Yu, J. Z., Zhou, J., Yang, F. X., Hao, J. P., Hou, Z. C., & Zhu, F. (2024). Genome-wide association analysis identifies important haplotypes and candidate gene XKR4for body size traits in Pekin ducks. Animals (Basel), 14(16), 2349. https://doi.org/10.3390/ani14162349
  25. Yurchenko, A. A., Daetwyler, H. D., & Yudin, N. (2018). Scans for signatures of selection in Russian cattle breed genomes reveal new candidate genes for environmental adaptation and acclimation. Scientific Reports, 8, 12984. https://doi.org/10.1038/s41598-018-31304-w
  26. Zhang, Q., Guldbrandtsen, B., Bosse, M., Lund, M. S., & Sahana, G. (2015). Runs of homozygosity and distribution of functional variants in the cattle genome. BMC Genomics, 16(1), 542. https://doi.org/10.1186/s12864-015-1715-x
  27. Zheng, S., Ouyang, J., Liu, S., Tang, H., Xiong, Y., Yan, X., & Chen, H. (2023). Genomic signatures reveal selection in Lingxian white goose. Poultry Science, 102(1), 102269. https://doi.org/10.1016/j.psj.2022.102269 . Epub 2022 Oct 21 
  28. Zhou, J., Yu, J. Z., Zhu, M. Y., Yang, F. X., Hao, J. P., He, Y., Zhu, X. L., Hou, Z. C., & Zhu, F. (2024). Genome-wide association analysis and genetic parameters for egg production traits in Peking ducks. Animals (Basel), 14(13), 1891. https://doi.org/10.3390/ani14131891
  29. Zhou, Z., Li, M., Cheng, H., Fan, W., Yuan, Z., & Gao, Q. (2018). An intercross population study reveals genes associated with body size and plumage color in ducks. Nature Communications, 9, 2648. https://doi.org/10.1038/s41467-018-04868-4
  30. Zhou, S., Ma, Y., Zhao, D., Mi, Y., & Zhang, C. (2020). Transcriptome profiling analysis of underlying regulation of growing follicle development in the chicken. Poultry Science, 99(6), 2861-2872. https://doi.org/10.1016/j.psj.2019.12.067 . Epub 2020 Mar 19 
  31. Zhu, F., Cui, Q. Q., Yang, Y. Z., Hao, J. P., Yang, F. X., & Hou, Z. C. (2020). Genome-wide association study of the level of blood components in Pekin ducks. Genomics, 112(1), 379-387. https://doi.org/10.1016/j.ygeno.2019.02.017

 

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  • Receive Date: 18 October 2024
  • Revise Date: 13 December 2024
  • Accept Date: 22 February 2025
  • First Publish Date: 25 May 2025