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Open Access Research article

Detection of mitochondrial insertions in the nucleus (NuMts) of Pleistocene and modern muskoxen

Sergios-Orestis Kolokotronis12, Ross DE MacPhee3 and Alex D Greenwood34*

  • * Corresponding author: Alex D Greenwood agreenwo@odu.edu

  • † Equal contributors

Author Affiliations

1 Sackler Institute for Comparative Genomics, American Museum of Natural History, Central Park West at 79th Street, New York, NY 10024, USA

2 Department of Ecology, Evolution, and Environmental Biology, Columbia University, 1200 Amsterdam Avenue, MC5557, New York, NY 10027, USA

3 Department of Mammalogy, Division of Vertebrate Zoology, American Museum of Natural History, Central Park West at 79th Street, New York, NY 10024, USA

4 Department of Biological Sciences, Old Dominion University, Mills Godwin Building, Room 108E, Norfolk, VA 23529-0266, USA

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BMC Evolutionary Biology 2007, 7:67  doi:10.1186/1471-2148-7-67

Published: 27 April 2007

Abstract

Background

Nuclear insertions of mitochondrial sequences (NuMts) have been identified in a wide variety of organisms. Trafficking of genetic material from the mitochondria to the nucleus has occurred frequently during mammalian evolution and can lead to the production of a large pool of sequences with varying degrees of homology to organellar mitochondrial DNA (mtDNA) sequences. This presents both opportunities and challenges for forensics, population genetics, evolutionary genetics, conservation biology and the study of DNA from ancient samples. Here we present a case in which difficulties in ascertaining the organellar mtDNA sequence from modern samples hindered their comparison to ancient DNA sequences.

Results

We obtained mitochondrial hypervariable region (HVR) sequences from six ancient samples of tundra muskox (Ovibos moschatus) that were reproducible but distinct from modern muskox sequences reported previously. Using the same PCR primers applied to the ancient specimens and the primers used to generate the modern muskox DNA sequences in a previous study, we failed to definitively identify the organellar sequence from the two modern muskox samples tested. Instead of anticipated sequence homogeneity, we obtained multiple unique sequences from both hair and blood of one modern specimen. Sequencing individual clones of a >1 kb PCR fragment from modern samples did not alleviate the problem as there was not a consistent match across the entire length of the sequences to Ovibos when compared to sequences in GenBank.

Conclusion

In specific taxa, due to nuclear insertions some regions of the mitochondrial genome may not be useful for the characterization of modern or ancient DNA.