Background: A single case of paternal co-transmission of mitochondrial DNA (mtDNA) in humans has been reported so far.
Objective: To find potential instances of non-maternal inheritance of mtDNA.
Methods: Published medical case studies (of single patients) were searched for irregular mtDNA patterns by comparing the given haplotype information for different clones or tissues with the worldwide mtDNA database as known to date—a method that has proved robust and reliable for the detection of flawed mtDNA sequence data.
Results: More than 20 studies were found reporting clear cut instances with mtDNAs of different ancestries in single individuals. As examples, cases are reviewed from recent published reports which, at face value, may be taken as evidence for paternal inheritance of mtDNA or recombination.
Conclusions: Multiple types (or recombinant types) of quite dissimilar mitochondrial DNA from different parts of the known mtDNA phylogeny are often reported in single individuals. From re-analyses and corrigenda of forensic mtDNA data, it is apparent that the phenomenon of mixed or mosaic mtDNA can be ascribed solely to contamination and sample mix up.
- HVS-I, first hypervariable segment
- HVS-II, second hypervariable segment
- mtDNA, mitochondrial DNA
- rCRS, revised Cambridge reference sequence
- mitochondrial DNA
- somatic mutation
- sequencing error
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Published Online First 27 May 2005
Competing interests: none declared