How many individuals share a mitochondrial genome?

AbstractMitochondrial DNA (mtDNA) is useful to assist with identification of the source of a biological sample, or to confirm matrilineal relatedness. Although the autosomal genome is much larger, mtDNA has an advantage for forensic applications of multiple copy number per cell, allowing better recovery of sequence information from degraded samples. In addition, biological samples such as fingernails, old bones, teeth and hair have mtDNA but little or no autosomal DNA. The relatively low mutation rate of the mitochondrial genome (mitogenome) means that there can be large sets of matrilineal-related individuals sharing a common mitogenome. Here we present the mitolina simulation software that we use to describe the distribution of the number of mitogenomes in a population that match a given mitogenome, and investigate its dependence on population size and growth rate, and on a database count of the mitogenome. Further, we report on the distribution of the number of meioses separating pairs of individuals with matching mitogenome. Our results have important implications for assessing the weight of mtDNA profile evidence in forensic science, but mtDNA analysis has many non-human applications, for example in tracking the source of ivory. Our methods and software can also be used for simulations to validate models of population history in human or non-human populations.Author SummaryThe maternally-inherited mitochondrial DNA (mtDNA) represents only a small fraction of the human genome, but mtDNA profiles are important in forensic science, for example when a biological evidence sample is degraded or when maternal relatedness is questioned. For forensic mtDNA analysis, it is important to know how many individuals share a mtDNA profile. We present a simulation model of mtDNA profile evolution, implemented in open-source software, and use it to describe the distribution of the number of individuals with matching mitogenomes, and their matrilineal relatedness. The latter is measured as the number of mother-child pairs in the lineage linking two matching individuals. We also describe how these distributions change when conditioning on a count of the profile in a frequency database.