The mitochondrial control region (MCR) has played an important role as a population genetic marker in many taxa but sequencing of complete eukaryotic genomes has revealed that nuclear integrations of mitochondrial DNA (numts) are abundant and widespread across many taxa. If left undetected, numts can inflate mitochondrial diversity and mislead interpretation of phylogenetic relationships. Comparative analyses of complete genomes in humans, orangutans and chimpanzees, and preliminary studies in gorillas have revealed high numt prevalence in great apes, but rigorous comparative analyses across taxa have been lacking. The present study aimed to systematically compare the evolutionary dynamics of MCR numts in great apes. Firstly, an inventory numts derived from the region containing the MCR subdomains was carried out by genomic BLAST searches. Secondly, presence/absence of each candidate numt was determined in great ape taxa to estimate numt insertion rate. Thirdly, alternative mechanisms of numt insertion, either through direct mitochondrial integration or post-insertional duplications, were also assessed. Fourthly, the effect of nuclear and mitochondrial environment on patterns of nucleotide composition and substitution was assessed through sequence comparisons of nuclear and mitochondrial paralogous sequences. Finally, numts in the gorilla genome were identified through two experimental methods and their use as polymorphic genetic markers was then evaluated in a sample of captive gorillas from U.S. zoos. A deficit of MCR numts covering two particular mitochondrial subdomains was detected in all three apes examined, and is largely attributed to rapid loss of mitochondrial and nuclear sequence identity in the mitochondrial genome. Insertion rates have varied during the great ape evolution and exhibit substantial differences even between related taxa. The most likely mechanism of numt insertion is direct mitochondrial integration through Non-Homologous-End-Joining Repair. Transition/transversion ratios differed significantly between both mitochondrial and nuclear sequences and between numts from coding and non-coding mitochondrial regions. A previously documented upward bias in the GC content of the primate mitochondrial genome was confirmed and the extent of this bias relative to the corresponding numt sequences increased with numt age. Five gorilla-specific numts were isolated, including three exhibiting insertional polymorphisms that will be used in future population genetic studies in free-range gorilla.

The pantherine lineage of cats diverged from the remainder of modern Felidae less than 11 million years ago. This clade consists of the five big cats of the genus Panthera, the lion, tiger, jaguar, leopard, and snow leopard, as well as the closely related clouded leopard, which diverged from Panthera approximately 6 million years ago. A significant problem exists with respect to the precise phylogeny of these highly threatened great cats. Within the past four years, despite multiple publications on the subject, no two studies have reconstructed the phylogeny of Panthera with the same topology, showing particular discordance with respect to sister-taxa relationships to the lion and the position of the enigmatic snow leopard. The evolutionary relationship among these cats remains unresolved partially due to their recent and rapid radiation 3-5 million years ago, individual speciation events occurring within less than 1 million years, and probable introgression between lineages following their divergence. We assembled a 47.6 kb dataset using novel and published DNA sequence data from the autosomes, both sex chromosomes and the mitochondrial genome. This dataset was analyzed both as a supermatrix and with respect to individual partitions using maximum likelihood and Bayesian phylogeny inference. Since discord may exist among gene segments in a multilocus dataset due to their unique evolutionary histories, inference was also performed using Bayesian estimation of species trees (BEST) to form a robust consensus topology. Incongruent topologies for autosomal loci indicated phylogenetic signal conflict within the corresponding segments. We resequenced four mitochondrial and three nuclear gene segments used in recent attempts to reconstruct felid phylogeny. The newly generated data was combined with available GenBank sequence data from all published studies to highlight phylogenetic disparities stemming either from the amplification of a mitochondrial to nuclear translocation event, or errors in species identification. We provide an alternative, highly supported interpretation of the evolutionary history of the pantherine lineage using 39 single-copy regions of the felid Y chromosome and supportive phylogenetic evidence from a revised mitochondrial partition. These efforts result in a highly corroborated set of species relationships that open up new avenues for the study of speciation genomics and understanding the historical events surrounding the origin of the members of this lineage.