nrDNA:mtDNA copy number ratios as a comparative metric for evolutionary and conservation genetics

• Published in: Heredity
• Main Author: Goodall-Copestake, William Paul
• Format: Text
• Language: English
• Published: Springer International Publishing 2018
• Subjects: Article; Elephant Island; Gough; Southern Ocean
• Online Access: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039500/; http://www.ncbi.nlm.nih.gov/pubmed/29752470; https://doi.org/10.1038/s41437-018-0088-8

Identifying genetic cues of functional relevance is key to understanding the drivers of evolution and increasingly important for the conservation of biodiversity. This study introduces nuclear ribosomal DNA (nrDNA) to mitochondrial DNA (mtDNA) copy number ratios as a metric with which to screen for this functional genetic variation prior to more extensive omics analyses. To illustrate the metric, quantitative PCR was used to estimate nrDNA (18S) to mtDNA (16S) copy number ratios in muscle tissue from samples of two zooplankton species: Salpa thompsoni caught near Elephant Island (Southern Ocean) and S. fusiformis sampled off Gough Island (South Atlantic). Average 18S:16S ratios in these samples were 9:1 and 3:1, respectively. nrDNA 45S arrays and mitochondrial genomes were then deep sequenced to uncover the sources of intra-individual genetic variation underlying these 18S:16S copy number differences. The deep sequencing profiles obtained were consistent with genetic changes resulting from adaptive processes, including an expansion of nrDNA and damage to mtDNA in S. thompsoni, potentially in response to the polar environment. Beyond this example from zooplankton, nrDNA:mtDNA copy number ratios offer a promising metric to help identify genetic variation of functional relevance in animals more broadly.