SEQUENCING AND ASSEMBLY HUMAN MITOCHONDRIAL GENOME USING LONG READ SEQUENCING

Lê Thị Dung; Lê Tùng Lâm; Nguyễn Quang Huy; Trương Nam Hải

doi:10.34238/tnu-jst.12719

SEQUENCING AND ASSEMBLY HUMAN MITOCHONDRIAL GENOME USING LONG READ SEQUENCING

About this article

Received: 05/05/25 Revised: 30/10/25 Published: 31/10/25

Authors

1. Le Thi Dung, Institute of Biology - Vietnam Academy of Science and Technology; University of Science and Technology of Hanoi - Vietnam Academy of Science and Technology
2. Le Tung Lam, Institute of Biology - Vietnam Academy of Science and Technology
3. Nguyen Quang Huy, University of Science and Technology of Hanoi - Vietnam Academy of Science and Technology
4. Truong Nam Hai , Institute of Biology - Vietnam Academy of Science and Technology; Graduate University of Science and Technology - Vietnam Academy of Science and Technology

Abstract

The human mitochondrial genome (mtDNA) plays a vital role in medical research, kinship identification, and population evolutionary analysis, especially when dealing with highly degraded samples. However, in Vietnam, research on mtDNA has primarily focused on the hypervariable regions within the D-loop, while the entire mitochondrial genome has not yet been fully explored. In this study, we employed high-accuracy PacBio HiFi sequencing technology to sequence and assemble the complete mitochondrial genome from a Vietnamese individual. The assembled genome is 16,809 base pairs in length, with a GC content of 44.4%. The findings provide more comprehensive data for mtDNA-related studies and highlight the advantages of long-read sequencing technology in mitochondrial genome assembly. Our result contributes to providing data for more in-depth applications in genetics and forensic science in Vietnam, especially expanding complete mtDNA analysis beyond the D-loop region to enhance the understanding of mitochondrial diversity and its implications for biomedical and anthropological research in the region.

Keywords

mtDNA; Sequencing; Assembly; HiFi read; SMRTbell

Full Text:

PDF (Tiếng Việt)

References

[1] P. F. Chinnery, “Mitochondrial DNA in Homo Sapiens,” in Human Mitochondrial DNA and the Evolution of Homo sapiens, Nucleic Acids and Molecular Biology, H. J. Bandelt, V. Macaulay, M. Richards, Ed., vol. 18. Springer, Berlin, Heidelberg, 2006, pp. 3-15.

[2] A. Piovesan, M. C. Pelleri, F. Antonaros et al., “On the length, weight and GC content of the human genome,” BMC Res Notes, vol. 12, no. 106, pp. 1-7, 2019.

[3] K. Ye, J. Lu, F. Ma, A. Keinan, and Z. Gu, “Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals,” Proceedings of the National Academy of Sciences, vol. 111, no. 29, pp. 10654-10659, 2014.

[4] C. L. Hernández, “Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era,” Genes (Basel), vol. 14, no. 8, 2023, Art. no. 1534.

[5] A. Sobenin, K. Y. Mitrofanov, A. V. Zhelankin, M. A. Sazonova, A. Y. Postnov, V. V. Revin, Y. V. Bobryshev, and A. N. Orekhov, “Quantitative assessment of heteroplasmy of mitochondrial genome: perspectives in diagnostics and methodological pitfalls,” BioMed Research International, vol. 2014, pp. 1-9, 2014.

[6] Y. Lin, J. Wang, R. Xu, Z. Xu, Y. Wang, S. Pan, Y. Zhang, Q. Tao, Y. Zhao, C. Yan, Z. Cao, and K. Ji, “HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA,” BMC Genomics, vol. 25, no. 538, pp. 1-12, 2024.

[7] A. M. Wenger, P. Peluso, W. J. Rowell et al., “Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome,” Nature Biotechnology, vol. 37, pp. 1155–1162, 2019.

D. D. La, T. H. Dinh, and D. T. Nguyen, “Genetic variation of the D-loop region of the Kinh ethnic group from the northern, central, and southern Vietnam,” Academia Journal of Biology, vol. 47, no. 1, pp. 75–85, 2025.

DOI: https://doi.org/10.34238/tnu-jst.12719

Refbacks

There are currently no refbacks.



Remember me