Bioinformatic approaches to study mtDNA variability in cancer

Author: M. Attimonelli
Submitted: Thursday 10th of February 2011 09:24:15 AM
Submitted by: egf
Language: English
Content type: Learning resource
Educational levels: expert, qc3


Thanks to the absence of recombinatory events and repair enzymes, mitochondrial DNA is the marker of excellence when the interest is to study human population genetics. Moreover, being mitochondrion the powerhouse of the cell, any mutation involving both mitochondrial DNA and nuclear DNA regions where nucleus/mitochondrion cross-talk elements are located, has great relevance in cellular metabolic pathways. Last but not least worthwhile to be mentioned is the fact that, after the endosymbiontic event, the original bacterial DNA that subsequently evolved in mitochondrial DNA, has lost fragments that reached the nuclear genome and became inserted thereby in a more or less random fashion. This event seems to be still ongoing. Thus human genome is highly populated with mitochondrial DNA fragments, which, having lost their function, are free to evolve and navigate within the genome, so much as to be considered the new human markers. These mitochondrial fragments reallocated in the nuclear genome are named NumtS. High is the number of NumtS observed in plants as well as in humans and more generally in primates. To summarize, the phenotypic expression of DNA human variability has to be correlated to mtDNA SNPs, to nuDNA SNPs located in human genes involved in mitochondrial pathways, and to NumtS. In my lecture, I will present the most useful and commonly used bioinformatics tools and databases supporting mitochondrial based human variability.


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Original version - English

abstract Mitochondrial_Bioinformatics_Attimonelli_5117.ppt

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M. Attimonelli. Bioinformatic approaches to study mtDNA variability in cancer. EUROGENE portal. February 2011. online:



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