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Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era

Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high-throughput studies. Several appealing properties justify the application of mtDNA to understand how human pop...

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Autor principal: Hernández, Candela L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453943/
https://www.ncbi.nlm.nih.gov/pubmed/37628587
http://dx.doi.org/10.3390/genes14081534
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author Hernández, Candela L.
author_facet Hernández, Candela L.
author_sort Hernández, Candela L.
collection PubMed
description Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high-throughput studies. Several appealing properties justify the application of mtDNA to understand how human populations are—from a genetic perspective—and how individuals exhibit phenotypes of biomedical importance. Here, I review the basics of mitochondrial studies with a focus on the dawn of the field, analysis methods and the connection between two sides of mitochondrial genetics: anthropological and biomedical. The particularities of mtDNA, with respect to inheritance pattern, evolutionary rate and dependence on the nuclear genome, explain the challenges of associating mtDNA composition and diseases. Finally, I consider the relevance of this single locus in the context of omics research. The present work may serve as a tribute to a tool that has provided important insights into the past and present of humankind.
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spelling pubmed-104539432023-08-26 Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era Hernández, Candela L. Genes (Basel) Review Mitochondrial DNA (mtDNA) is a small fraction of our hereditary material. However, this molecule has had an overwhelming presence in scientific research for decades until the arrival of high-throughput studies. Several appealing properties justify the application of mtDNA to understand how human populations are—from a genetic perspective—and how individuals exhibit phenotypes of biomedical importance. Here, I review the basics of mitochondrial studies with a focus on the dawn of the field, analysis methods and the connection between two sides of mitochondrial genetics: anthropological and biomedical. The particularities of mtDNA, with respect to inheritance pattern, evolutionary rate and dependence on the nuclear genome, explain the challenges of associating mtDNA composition and diseases. Finally, I consider the relevance of this single locus in the context of omics research. The present work may serve as a tribute to a tool that has provided important insights into the past and present of humankind. MDPI 2023-07-27 /pmc/articles/PMC10453943/ /pubmed/37628587 http://dx.doi.org/10.3390/genes14081534 Text en © 2023 by the author. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Hernández, Candela L.
Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title_full Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title_fullStr Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title_full_unstemmed Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title_short Mitochondrial DNA in Human Diversity and Health: From the Golden Age to the Omics Era
title_sort mitochondrial dna in human diversity and health: from the golden age to the omics era
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10453943/
https://www.ncbi.nlm.nih.gov/pubmed/37628587
http://dx.doi.org/10.3390/genes14081534
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