Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes

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 hig...

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Autores principales:	Rahul K. Verma, Alena Kalyakulina, Cristina Giuliani, Pramod Shinde, Ajay Deep Kachhvah, Mikhail Ivanchenko, Sarika Jalan
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/d4261b2a219b40f0b1aacfabbc206df0
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spelling	oai:doaj.org-article:d4261b2a219b40f0b1aacfabbc206df02021-12-02T11:46:06ZAnalysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes10.1038/s41598-020-80271-82045-2322https://doaj.org/article/d4261b2a219b40f0b1aacfabbc206df02021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-020-80271-8https://doaj.org/toc/2045-2322Abstract 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.Rahul K. VermaAlena KalyakulinaCristina GiulianiPramod ShindeAjay Deep KachhvahMikhail IvanchenkoSarika JalanNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Rahul K. Verma Alena Kalyakulina Cristina Giuliani Pramod Shinde Ajay Deep Kachhvah Mikhail Ivanchenko Sarika Jalan Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
description	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.
format	article
author	Rahul K. Verma Alena Kalyakulina Cristina Giuliani Pramod Shinde Ajay Deep Kachhvah Mikhail Ivanchenko Sarika Jalan
author_facet	Rahul K. Verma Alena Kalyakulina Cristina Giuliani Pramod Shinde Ajay Deep Kachhvah Mikhail Ivanchenko Sarika Jalan
author_sort	Rahul K. Verma
title	Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
title_short	Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
title_full	Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
title_fullStr	Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
title_full_unstemmed	Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes
title_sort	analysis of human mitochondrial genome co-occurrence networks of asian population at varying altitudes
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/d4261b2a219b40f0b1aacfabbc206df0
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Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes

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