Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans

• Published in: BMC evolutionary biology Vol. 10; no. 1; p. 270
• Main Authors: Zsurka, Gábor, Kudina, Tatiana, Peeva, Viktoriya, Hallmann, Kerstin, Elger, Christian E, Khrapko, Konstantin, Kunz, Wolfram S
• Format: Journal Article
• Language: English
• Published: London BioMed Central 02.09.2010; BioMed Central Ltd; BMC
• Subjects: Adenosine triphosphatase; Animal Systematics/Taxonomy/Biogeography; Animals; Bayesian analysis; Biological diversity; Biomedical and Life Sciences; Deoxyribonucleic acid; DNA; DNA, Mitochondrial - genetics; Energy conversion; Energy conversion efficiency; Entomology; Evolutionary Biology; F0F1-ATPase; Gene banks; Genes; Genetic diversity; Genetic testing; Genetics and Population Dynamics; Genome, Mitochondrial - genetics; Genomes; Homeostasis; Hominids; Homo sapiens; Humans; Life Sciences; Mitochondrial DNA; Mutation; Mutation hot spots; Nucleotides; Pan paniscus; Pan paniscus - classification; Pan paniscus - genetics; Phosphorylation; Phylogeny; Population; Proton-Translocating ATPases - genetics; Research Article; United States; Germany; Evolutionary Constraint; Modern Human; Complete Mitochondrial Genome; Mitochondrial Genome; ATPase Gene
• ISSN: 1471-2148; 1471-2148
• DOI: 10.1186/1471-2148-10-270

Background We have analyzed the complete mitochondrial genomes of 22 Pan paniscus (bonobo, pygmy chimpanzee) individuals to assess the detailed mitochondrial DNA (mtDNA) phylogeny of this close relative of Homo sapiens . Results We identified three major clades among bonobos that separated approximately 540,000 years ago, as suggested by Bayesian analysis. Incidentally, we discovered that the current reference sequence for bonobo likely is a hybrid of the mitochondrial genomes of two distant individuals. When comparing spectra of polymorphic mtDNA sites in bonobos and humans, we observed two major differences: (i) Of all 31 bonobo mtDNA homoplasies, i.e. nucleotide changes that occurred independently on separate branches of the phylogenetic tree, 13 were not homoplasic in humans. This indicates that at least a part of the unstable sites of the mitochondrial genome is species-specific and difficult to be explained on the basis of a mutational hotspot concept. (ii) A comparison of the ratios of non-synonymous to synonymous changes ( d N /d S ) among polymorphic positions in bonobos and in 4902 Homo sapiens mitochondrial genomes revealed a remarkable difference in the strength of purifying selection in the mitochondrial genes of the F 0 F 1 -ATPase complex. While in bonobos this complex showed a similar low value as complexes I and IV, human haplogroups displayed 2.2 to 7.6 times increased d N /d S ratios when compared to bonobos. Conclusions Some variants of mitochondrially encoded subunits of the ATPase complex in humans very likely decrease the efficiency of energy conversion leading to production of extra heat. Thus, we hypothesize that the species-specific release of evolutionary constraints for the mitochondrial genes of the proton-translocating ATPase is a consequence of altered heat homeostasis in modern humans.