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Sarika, JALAN
복잡계 이론물리 연구단
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Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes

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Title
Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
Author(s)
Verma, Rahul K.; Kalyakulina, Alena; Giuliani, Cristina; Shinde, Pramod; Kachhvah, Ajay Deep; Ivanchenko, Mikhail; Sarika Jalan
Publication Date
2021-01
Journal
SCIENTIFIC REPORTS, v.11, no.1
Publisher
NATURE RESEARCH
Abstract
Networks have been established as an extremely powerful framework to understand and predict the behavior of many large-scale complex systems. We studied network motifs, the basic structural elements of networks, to describe the possible role of co-occurrence of genomic variations behind high altitude adaptation in the Asian human population. Mitochondrial DNA (mtDNA) variations have been acclaimed as one of the key players in understanding the biological mechanisms behind adaptation to extreme conditions. To explore the cumulative effects of variations in the mitochondrial genome with the variation in the altitude, we investigated human mt-DNA sequences from the NCBI database at different altitudes under the co-occurrence motifs framework. Analysis of the co-occurrence motifs using similarity clustering revealed a clear distinction between lower and higher altitude regions. In addition, the previously known high altitude markers 3394 and 7697 (which are definitive sites of haplogroup M9a1a1c1b) were found to co-occur within their own gene complexes indicating the impact of intra-genic constraint on co-evolution of nucleotides. Furthermore, an ancestral 'RSRS50' variant 10,398 was found to co-occur only at higher altitudes supporting the fact that a separate route of colonization at these altitudes might have taken place. Overall, our analysis revealed the presence of co-occurrence interactions specific to high altitude at a whole mitochondrial genome level. This study, combined with the classical haplogroups analysis is useful in understanding the role of co-occurrence of mitochondrial variations in high altitude adaptation.
URI
https://pr.ibs.re.kr/handle/8788114/9900
DOI
10.1038/s41598-020-80271-8
ISSN
2045-2322
Appears in Collections:
Center for Theoretical Physics of Complex Systems(복잡계 이론물리 연구단) > 1. Journal Papers (저널논문)
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