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Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

Human mitochondria contain a high copy number, maternally transmitted genome (mtDNA) that encodes 13 proteins required for oxidative phosphorylation. Heteroplasmy arises when multiple mtDNA variants co-exist in an individual and can exhibit complex dynamics in diseanse and in aging. As all proteins...

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Detalles Bibliográficos
Autores principales: Gupta, Rahul, Kanai, Masahiro, Durham, Timothy J., Tsuo, Kristin, McCoy, Jason G., Chinnery, Patrick F., Karczewski, Konrad J., Calvo, Sarah E., Neale, Benjamin M., Mootha, Vamsi K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9882621/
https://www.ncbi.nlm.nih.gov/pubmed/36711677
http://dx.doi.org/10.1101/2023.01.19.23284696