mtDNA Evolution and Adaptation

In these projects, we are investigating the role of genetic background on the bioenergetics of human and non-human organisms, and particularly the role of the mtDNA in these processes.

mtDNA Variation and Temperature Adaptation in C. elegans

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Endothelial Cell Bioenergetics and Mitochondrial DNA Background

Mitochondrial DNA damage is associated with various diseases. Image source: Singh et al. 2015. Mitochondrial DNA damage and diseases. F1000 Research 4:176 (


Merriwether DA, Clark AG, Ballinger SW, Schurr TG, Soodyall H, Jenkins T, Sherry ST, Wallace DC. 1991. The structure of human mitochondrial DNA variation. J Mol Evol 33(6): 543-555.

Wallace DC, Stugard C, Murdock D, Schurr TG, Brown MD. 1997. Ancient mitochondrial DNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations. Proc Natl Acad Sci USA 94(26): 14900-14905.

Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur J, King M, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Hakonarson H, Gai X, Falk MJ. 2011. Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip call rate and accuracy. BMC Bioinformatics 12: 402.

Dingley S, Polyak E, Ostrovsky J, Srinivasan S, Lee I, Rosenfeld A, Tsukikawa, Xiao R, Selak M, Coon JJ, Hebert A, Grimsurd P, Pagliarini D, Gai X, Schurr TG, Hüttemann M, Ogiso-Nakamaru E, Falk MJ. 2014. Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans. J Mol Biol 426(11): 2199-2216.

Krzywanski DM, Moellering DR, Westbrook DG, Dunham-Snary KJ, Brown J, Bray AW, Feeley KP, Sammy MJ, Smith MR, Schurr TG, Vita JA, Ambalavanan N, Calhoun D, Dell’Italia L, Ballinger SW. 2016. Endothelial cell bioenergetics and mitochondrial DNA damage differ in humans having African or West Eurasian maternal ancestry. Circ Cardiovasc Genet DOI: 10.1161/CIRCGENETICS.115.001308.

Friedrich VK, Rubel M, Schurr TG. 2021. The role of mitochondrial genetic variation in human bioenergetics, adaptation, and adult disease. Am J Hum Biol First published: 19 June 2021

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Laboratory of Molecular Anthropology
University of Pennsylvania
421 University Museum
3260 South Street
Philadelphia, PA 19104-6398, USA
Tel: 215-573-2656