The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation.

ABSTRACT:

Background

Nuclear mitochondrial pseudogenes (numts) are a potential source of contamination during mitochondrial DNA PCR amplification. This possibility warrants careful experimental design and cautious interpretation of heteroplasmic results.

Results

Here we report the cloning and sequencing of numts loci, amplified from human tissue and rho-zero (rho0) cells (control) with primers known to amplify the mitochondrial genome. This paper is the first to fully sequence 46 paralogous nuclear DNA fragments that represent the entire mitochondrial genome. This is a surprisingly small number due primarily to the primer sets used in this study, because prior to this, BLAST searches have suggested that nuclear DNA harbors between 400 to 1,500 paralogous mitochondrial DNA fragments. O

SUBMITTER: Parr RL 

PROVIDER: S-EPMC1538596 | biostudies-literature | 2006 Jul

REPOSITORIES: biostudies-literature