Analysis of homozygous regions in the genome of chinese silkie chickens to identify genes affecting adaptive properties
https://doi.org/10.52419/issn2072-2419.2026.1.323
Abstract
Homozygous regions in the genome serve as markers of areas under selective pressure. These regions likely harbor genes responsible for key production traits targeted in breeding programs. For this study, we performed whole-genome genotyping at 30×coverage on DNA extracted from blood samples of Chinese Silkie chickens (n=20) maintained at the Center for Genetic Collections of Rare and Endangered Chicken Breeds (Pushkin, St. Petersburg, Russia). Our aim was to identify runs of homozygosity (ROH) in this population and pinpoint genes within them that relate to adaptive traits and immune resilience. After quality filtering, we analyzed 10,593,367 SNPs. We detected ROH on chromosomes 1, 3, 4, 7, and 9, encompassing nine regions that collectively contain 40 genes. Of these, we annotated 25 genes; here, we focus on those that directly or indirectly influence adaptive capacity and immune responses in chickens: HAAO gene on chromosome 3, and ATP5G3, ATF2, WIPF1, SCRN3, CIR1, and OLA1 genes on chromosome 7. Functional annotation links these genes to adaptive and physiological processes in chickens. The HAAO gene contributes to multiple roles, including the heat stress response. Meanwhile, ATF2, ATP5G3, OLA1, WIPF1, SCRN3, and CIR1 form a cluster associated with stress reactivity, immune function, mitochondrial activity, and cellular homeostasis. Together, they modulate energy metabolism, oxidative stress, inflammatory signaling, tissue repair, and intercellular communication. This gene set underscores the importance of metabolic robustness, immune defense, and stress adaptation to the distinctive phenotype of the Chinese Silkie population. We posit that homozygosity at these loci enhances the breed's hardiness and adaptability across diverse rearing conditions.
Keywords
About the Authors
N. V. DementievaRussian Federation
Candidate of Biological Sciences, Head of the Laboratory of Molecular Genetics
Yu. S. Shcherbakov
Russian Federation
Candidate of Biological Sciences, Junior Researcher at the Laboratory of Molecular
O. A. Nikolaeva
Russian Federation
Postgraduate Student Of The Laboratory Of Molecular Genetics
A. B. Vakhrameev
Russian Federation
Leading Livestock Specialist
O. V. Mitrofanova
Russian Federation
Candidate of Biological Sciences, Leading Biologist of the Molecular Genetics Laboratory
References
1. Kirin M., McQuillan R., Franklin C. S. et al. Genomic runs of homozygosity record population history and consanguinity. PloS one. 2010; 5(11).e13996. doi: 10.1371/journal.pone.0013996
2. Dementieva N.V., Kudinov A.A., Larkina T.A., et al. Genetic Variability in Local and Imported Germplasm Chicken Populations as Revealed by Analyzing Runs of Homozygosity. Animals. 2020;10. doi:10.3390/ani10101887.
3. Fedorova E.S., Dementieva N.V., Shcherbakov Y.S., Stanishevskaya O.I. Identification of Key Candidate Genes in Runs of Homozygosity of the Genome of Two Chicken Breeds, Associated with Cold Adaptation. Biology (Basel) 2022;11. doi: 10.3390/biology11040547.
4. Dementieva N.V., Shcherbakov Y.S., Stanishevskaya O.I., et al. Large-scale genome-wide SNP analysis reveals the rugged (and ragged) landscape of global ancestry, phylogeny, and demographic history in chicken breeds. J Zhejiang Univ Sci B. 2024 Apr 15;25(4):324-340. doi:10.1631/jzus.B2300443.
5. Huang R., Zhu C., Zhen Y. Genetic diversity, historical demographics, and selective signatures of Silkie chicken. BMC genomics. 2024; 25(1):754. doi: 10.1186/s12864-024-10671-x
6. Prakash A., Singh Y., Chatli M., et al. Review of the black meat chicken breeds: Kadaknath, Silkie, and Ayam Cemani. World’s Poultry Science Journal. 2023; 79 (4):879–891. doi: 10.1080/00439339.2023.225032
7. Vakhrameev, A. B. Exterior evaluation of chickens / A. B. Vakhrameev, A. V. Makarova. – Dubrovitsy: Ernsta, 2021. – 227 p. – ISBN 978-5-902483-64-9.
8. Feng C., Gao Y., Dorshorst B. et al. A cisregulatory mutation of PDSS2 causes silkyfeather in chickens. PLoS genetics. 2014:10 (8);e1004576. doi: 10.1371/journal.pgen.1004576
9. He C., Chen Y., Yang K. et al. Genetic pattern and gene localization of polydactyly in Beijing fatty chicken. PLoS One. 2017;12 (5):e0176113. doi: 10.1371/journal.pone.0176113
10. Yang X, Ma B, Zhao Q, et al. High temporal-resolution transcriptome landscape reveals the biological process and regulatory genes of melanin deposition in breast muscle of Silkie chickens during embryonic development. BMC Genomics. 2025.13;26 (1):476. 1. doi: 10.1186/s12864-025-11654-2
11. Shao B, Wang Z, Luo P, et al. Identifying insulin-responsive circRNAs in chicken pectoralis. BMC Genomics. 2025 Feb 15;26 (1):148. doi: 10.1186/s12864-025-11347-w.
12. Jamshed L., Debnat A., Jamshed, S., et al. (2022). An Emerging Cross-Species Marker for Organismal Health: Tryptophan-Kynurenine Pathway. International Journal of Molecular Sciences, 23(11), 6300. doi: 10.3390/ijms23116300
13. Kim D. Y., Han G. P., Lim C., Kim J. M., Kil D. Y. (2023). Effect of dietary betaine supplementation on the liver transcriptome profile in broiler chickens under heat stress conditions. Animal bioscience, 36(11), 1632–1646. doi: 10.5713/ab.23.0228
14. Liu X., Men L., Chen Y., et al (2024). Tryptophan Promotes the Production of Xanthophyll Compounds in Yellow Abdominal Fat through HAAO. Animals: an open access journal from MDPI, 14(11), 1555. doi: 10.3390/ani14111555
15. Wang Y. (2020). Research Progress on MicroRNAs Involved in the Regulation of Chicken Diseases. The journal of poultry science, 57(1), 7–17. doi: 10.2141/jpsa.0190073
16. Bhoumik A., Ronai Z. (2008). ATF2: a transcription factor that elicits oncogenic or tumor suppressor activities. Cell cycle (Georgetown, Tex.), 7(15), 2341–2345. doi: 10.4161/cc.6388
17. Claps G., Cheli Y., Zhang T., et al. (2016). A Transcriptionally Inactive ATF2 Variant Drives Melanomagenesis. Cell reports, 15(9), 1884–1892. doi: 10.1016/j.celrep.2016.04.072
18. Wang Y., Miao X., Li H., et al. (2020). The correlated expression of immune and energy metabolism related genes in the response to Salmonella enterica serovar Enteritidis inoculation in chicken. BMC veterinary research, 16(1), 257. doi: 10.1186/s12917-020-02474-5
19. Yan W. L., Lerner T. J., Haines J. L., Gusella J. F. (1994). Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics, 24(2), 375–377. doi: 10.1006/geno.1994.1631
20. Huang Y., Wang L., Bennett B., et al. (2013). Potential role of Atp5g3 in epigenetic regulation of alcohol preference or obesity from a mouse genomic perspective. Genetics and molecular research: GMR, 12(3), 3662–3674. doi: 10.4238/2013.September.18.1
21. Zhang J., Rubio V., Lieberman M. W., Shi Z. Z. (2009). OLA1, an Obg-like ATPase, suppresses antioxidant response via nontranscriptional mechanisms. Proceedings of the National Academy of Sciences of the United States of America, 106(36), 15356–15361. doi: 10.1073/pnas.0907213106
22. Lin T. F., Chou C. L., Hsieh C. J., Wu Y. J., Chen Y. C., Wu T. W., Lu S. X., Juang Y. L., Wang L. Y. (2022). Association of Common Variants in OLA1 Gene with Preclinical Atherosclerosis. International journal of molecular sciences, 23(19), 11511. doi: 10.3390/ijms231911511
23. Qian A., Di S., Gao X., et al. (2009). cDNA microarray reveals the alterations of cytoskeleton-related genes in osteoblast under high magneto-gravitational environment. Acta biochimica et biophysica Sinica, 41(7), 561–577. doi: 10.1093/abbs/gmp041
24. Su F., Xiao R., Chen R., et al. (2023). WIPF1 promotes gastric cancer progression by regulating PI3K/Akt signaling in a myocardin-dependent manner. iScience, 26(11), 108273. doi: 10.1016/j.isci.2023.108273
25. Abbasi A. A. (2010). Unraveling ancient segmental duplication events in human genome by phylogenetic analysis of multigene families residing on HOX-cluster paralogons. Molecular phylogenetics and evolution, 57(2), 836–848. doi: 10.1016/j.ympev.2010.07.021
26. Bustin K. A., Shishikura K., Chen I., et al. (2023). Phenelzine-based probes reveal Secernin-3 is involved in thermal nociception. Molecular and cellular neurosciences, 125, 103842. doi: 10.1016/j.mcn.2023.103842
27. Carstens M., McCrindle T. K., Adams N., et al. (2014). Increased resistance to biotrophic pathogens in the Arabidopsis constitutive induced resistance 1 mutant is EDS1 and PAD4-dependent and modulated by environmental temperature. PloS one, 9(10), e109853. doi: 10.1371/journal.pone.0109853
28. Contreras-Cornejo H., Saucedo-Correa G., Oviedo-Boyso J., et al. (2016). The CSL proteins, versatile transcription factors and context dependent corepressors of the notch signaling pathway. Cell division, 11, 12. doi: 10.1186/s13008-016-0025-2
Review
For citations:
Dementieva N.V., Shcherbakov Yu.S., Nikolaeva O.A., Vakhrameev A.B., Mitrofanova O.V. Analysis of homozygous regions in the genome of chinese silkie chickens to identify genes affecting adaptive properties. International Journal of Veterinary Medicine. 2026;(1):323-331. (In Russ.) https://doi.org/10.52419/issn2072-2419.2026.1.323
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