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The New Zealand skink fauna has proven to be an ideal taxonomic group in which to examine the impact of climatic and geological processes on the evolution of the New Zealand biota since the Pliocene. Here we examine the phylogeography of McCann's skink (Oligosoma maccanni) in order to gain insight into the relative contribution of Pliocene and Pleistocene processes on patterns of genetic structure in the South Island biota, and investigate the phylogeography of the brown skink (O. zelandicum) to examine whether Cook Strait landbridges facilitated geneflow between the North and South Islands in the late-Pleistocene. We obtained mitochondrial DNA sequence data (ND2 and ND4; 1282bp) from across the range of both species. We examined the phylogeographic patterns evident in each species using Neighbour-Joining, Maximum Likelihood and Bayesian methods. We found substantial phylogeographic structure within O. maccanni, with seven distinct clades identified. Divergences among clades are estimated to have occurred during the Pliocene. Populations in the Otago/Southland region (south of the Waitaki River valley) formed a well-supported lineage within O. maccanni. A substantial genetic break was evident between populations in east and west Otago, either side of the Nevis-Cardrona fault system, while north-south genetic breaks were evident within the Canterbury region. Within-clade divergences in O. maccanni appear to have occurred during the mid- to late-Pleistocene. Shimodaira-Hasegawa topology tests indicated that the 'Garston' skink is not genetically distinct from O. maccanni. There was only relatively minor phylogeographic structure within O. zelandicum, with divergences among populations occurring during the mid- to late-Pleistocene. Our genetic data supports a single colonisation of the North Island by O. zelandicum from the South Island, with the estimated timing of this event (0.46mya) consistent with the initial formation of Cook Strait.
Mol Phylogenet Evol 2008 Sep
PMID:Phylogeography of two New Zealand lizards: McCann's skink (Oligosoma maccanni) and the brown skink (O. zelandicum). 1855 96

The complete mitochondrial genomes of two basal anurans, Bombina bombina and B. variegata (Anura; Bombinatoridae), were sequenced. The gene order of their mitochondrial DNA (mtDNA) is identical to that of canonical vertebrate mtDNA. In contrast, we show that there are structural differences in regulatory regions and protein coding genes between the mtDNA of these two closely related species. Corrected sequence divergence between the mtDNA of B. bombina and B. variegata amounts to 8.7% (2.3% divergence in amino acids). Comparisons with two East Asian congeners show that the control region contains two repeat regions, LV1 and LV2, present in all species except for B. bombina, in which LV2 has been secondarily lost. The rRNAs and tRNAs are characterized by low nucleotide divergence. The protein coding genes are considerably more disparate, although functional constraint is high but variable among genes, as evidenced by dN/dS ratios. A mtDNA phylogeny established the distribution of autapomorphic nonsynonomous substitutions in the mitogenomes of B. bombina and B. variegata. Nine of 98 nonsynonomous substitutions led to radical amino acid replacements that may alter mitochondrial protein function. Most radical substitutions were found in ND2, ND4, or ND5, encoding mitochondrial subunits of complex I of the electron transport system. The extensive divergence between the mitogenomes of B. bombina and B. variegata is discussed in terms of its possible role in impeding gene flow in natural hybrid zones between these two species.
J Mol Evol 2008 Sep
PMID:Comparative analysis of mitochondrial genomes in Bombina (Anura; Bombinatoridae). 1869 31

Leber's hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was further demonstrated by reversibly inhibiting mitochondrial protein translation with doxycycline. Our results showed differentially delayed assembly rates of respiratory chain complexes I, III and IV amongst mutants belonging to different mtDNA haplogroups, revealing that specific mtDNA polymorphisms may modify the pathogenic potential of LHON mutations by affecting the overall assembly kinetics of OXPHOS complexes.
Hum Mol Genet 2008 Dec 15
PMID:Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. 1880 73

Hybognathus is a putatively monophyletic group of North American minnows containing seven extant species. Although much is known about the taxonomy, biology, and life history of Hybognathus species, their phylogenetic relations with each other remain unclear. We address this problem with partial sequences of mitochondrial cytochrome-b, 16S rRNA, and ND4 mtDNA genes and nuclear growth hormone (GH) and S7 introns from representatives of all Hybognathus species and four outgroup taxa. Phylogenetic analyses of these data corroborated previous studies on the monophyly of seven recognized species of Hybognathus, and indicated weak support for monophyly of the genus. Topological tests, however, revealed significant (all P<0.001) conflict among molecular data sets. Ad hoc removal of taxa from topologies and subsequent testing indicated that incongruence was localized to two specific ingroup taxa (H. hayi and H. regius) and suggested that the conflict is a function of underlying processes that have generated the observed phylogenetic patterns. Hybridization (ancestral), which is commonplace in cyprinids, may best explain topological disagreements among datasets; however, retention of ancestral polymorphism and natural selection remain as alternative hypotheses. Our results highlight methodological and topological problems associated with estimating interspecific phylogenies from multiple genes.
Mol Phylogenet Evol 2009 Mar
PMID:Incongruent gene trees, complex evolutionary processes, and the phylogeny of a group of North American minnows (Hybognathus Agassiz 1855). 1904 6

The Indo-West Pacific (IWP), from South Africa in the western Indian Ocean to the western Pacific Ocean, contains some of the most biologically diverse marine habitats on earth, including the greatest biodiversity of chondrichthyan fishes. The region encompasses various densities of human habitation leading to contrasts in the levels of exploitation experienced by chondrichthyans, which are targeted for local consumption and export. The demersal chondrichthyan, the zebra shark, Stegostoma fasciatum, is endemic to the IWP and has two current regional International Union for the Conservation of Nature (IUCN) Red List classifications that reflect differing levels of exploitation: 'Least Concern' and 'Vulnerable'. In this study, we employed mitochondrial ND4 sequence data and 13 microsatellite loci to investigate the population genetic structure of 180 zebra sharks from 13 locations throughout the IWP to test the concordance of IUCN zones with demographic units that have conservation value. Mitochondrial and microsatellite data sets from samples collected throughout northern Australia and Southeast Asia concord with the regional IUCN classifications. However, we found evidence of genetic subdivision within these regions, including subdivision between locations connected by habitat suitable for migration. Furthermore, parametric F(ST) analyses and Bayesian clustering analyses indicated that the primary genetic break within the IWP is not represented by the IUCN classifications but rather is congruent with the Indonesian throughflow current. Our findings indicate that recruitment to areas of high exploitation from nearby healthy populations in zebra sharks is likely to be minimal, and that severe localized depletions are predicted to occur in zebra shark populations throughout the IWP region.
Mol Ecol 2009 Jan
PMID:IUCN classification zones concord with, but underestimate, the population genetic structure of the zebra shark Stegostoma fasciatum in the Indo-West Pacific. 1919 79

We conducted phylogenetic analyses to identify the closest related living relatives of the Xizang and Sichuan hot-spring snakes (T. baileyi and T. zhaoermii) endemic to the Tibetan Plateau, using mitochondrial DNA sequences (cyt b, ND4) from eight specimens, together with sequences from 95 additional caenophidian and five henophidian genera that were downloaded from GenBank. Phylogenetic trees were obtained using Bayesian Inference and Maximum likelihood methods. Results suggest that hot-spring snakes, which are adapted to high and cold environments, were clustered in the monophyletic Xenodontinae. Xenodontinae is one of the largest subfamilies of colubrid snakes, with about 90 genera and more than 500 species known, and are primarily tropical snakes previously thought to be restricted to the New World. Our data failed to provide any evidence that the New World xenodontines diverged from Thermophis and dispersed into the New World, also failed to suggest a colonization of Asia by New World xenodontines by dispersal from the New World. An alternative plausible scenario may be that Thermophis and the New World xenodontines evolved independently in Asia and America, respectively, after the divergence of their common ancestor. The divergence of the two species in Thermophis was caused by the barrier of the Hengduan Mountains, and the speciation had almost occurred when Tibetan Plateau attained present elevation.
Mol Phylogenet Evol 2009 Jun
PMID:What are the closest relatives of the hot-spring snakes (Colubridae, Thermophis), the relict species endemic to the Tibetan Plateau? 1924 75

Phylogenetic relationships among the trichomycterid catfishes are investigated for the first time using molecular sequence data. Data derived from mitochondrial and nuclear DNA sequences for representatives of 17 genera were analyzed to test previous hypotheses of relationships among trichomycterid subfamilies, the monophyly of the subfamily Stegophilinae, and the monophyly and relationships among the genera of parasitic members of the family. We analyzed 2325 aligned base-pairs from mitochondrial 12S, 16S, ND4 (tRNA(His) tRNA(Ser)), and the nuclear histone H3 gene for representatives of 10 of 12 stegophiline and 3 of 4 vandelliine genera, plus 10 outgroup taxa selected to represent the range of subfamilial diversity. Maximum parsimony and likelihood approaches resolved a monophyletic semiparasitic Stegophilinae as the sister-group of the obligate hematophagous Vandelliinae. At the level of subfamilies, the pattern of relationships of the parasitic members among the remainder of the family is fully congruent with the most recent hypothesis of relationships for trichomycterids based exclusively on morphological data. Within stegophilines, our results differ from multiple previous morphological studies in recovery of (1) Haemomaster and Ochmacanthus as sister-taxa, (2) the morphologically plesiomorphic Pareidon microps nested within a relatively distal part of the tree topology, (3) Apomatoceros as sister to Henonemus, rather than to the morphologically similar Megalocentor. These result indicate that parasitism arose once and was unreversed within the Trichomycteridae. Survey of diet and feeding morphology among trichomycterids suggests that the semiparasitic lifestyle of the members of the Stegophilinae was retained in the enigmatic Pareiodon microps, despite reversal to the generalized trichomycterid condition of the associated morphological specializations found in all other stegophilines. These results further support the reconstruction of semiparasitism, rather than blood feeding, for the shared common ancestor of the parasitic Trichomycteridae.
Mol Phylogenet Evol 2009 Aug
PMID:Relationships among the Neotropical Candirus (Trichomycteridae, Siluriformes) and the evolution of parasitism based on analysis of mitochondrial and nuclear gene sequences. 1925 70

The genus Oncorhynchus includes Pacific salmon and trout (anadromous and land-locked) species of the western United States and Mexico. All species and subspecies in this group are threatened, endangered, sensitive, or species of conservation concern in portions of their native ranges. To examine the relationships of the species within Oncorhynchus we sequenced a 768 bp fragment of the protein-encoding ND4 mtDNA region. We included all six recognized subspecies of O. clarki (cutthroat trout), O. gilaegilae (Gila trout) and O. g. apache (Apache trout). Gene trees from likelihood and Bayesian phylogenetic analyses revealed that Salvelinus was the sister group to Oncorhynchus, and as expected based on previous studies, O. clarki was sister to a clade that consisted of O. mykiss plus O. g. gilae and O. g. apache. Within the cutthroat clade (O. clarki), the coastal form O. c. clarki was basal with the Rio Grande cutthroat (O. c. virginalis) most derived. Divergence dating based on a fossil calibration molecular clock showed the oldest clade (mean node age) was O. masou ssp., which diverged roughly 7.6 MYA. Highest probability density intervals for divergence of O. masou overlapped with divergence (6.3 MYA) of Pacific salmon clades ((O. gorbuscha + O. nerka) and (O. tshawytscha + O. kisutch)). The Pacific trout clade ((O. mykiss + O. gilae ssp.) + (O. clarki ssp.)) diverged from the Pacific salmon around 6.3 MYA, with most of the diversification within the O. clarki clade occurring in the last 1 MY.
Mol Phylogenet Evol 2009 Aug
PMID:Phylogenetic analysis of the Pacific cutthroat trout (Oncorhynchus clarki ssp.: Salmonidae) based on partial mtDNA ND4 sequences: a closer look at the highly fragmented inland species. 1934 7

The diverse scincid lizard fauna of the largely submerged subcontinent of Zealandia (which incorporates New Zealand, New Caledonia, Lord Howe Island, Norfolk Island, and the Chatham Islands) forms a monophyletic lineage within the Eugongylus group of skinks. We use 4062 bp of mitochondrial (ND2, ND4, Cytochrome b, 12SrRNA, 16SrRNA) and nuclear (Rag-1) DNA sequence data to recover a molecular phylogeny for the New Zealand skink fauna, and investigate the origin and diversification of skinks in New Zealand. Our phylogeny includes 32 of the 33 extant described New Zealand skink species (Cyclodina and Oligosoma), the Lord Howe Island skink (C. lichenigera), and representatives from several New Caledonian genera. Neighbour-joining, Maximum Parsimony, Maximum Likelihood, and Bayesian phylogenetic analyses are used to demonstrate that the New Zealand skink species form a single monophyletic lineage, with C. lichenigera representing a closely related sister lineage to the New Zealand radiation. Our relaxed molecular clock analyses indicate that skinks colonised New Zealand in the early Miocene (16-22.6 mya), shortly after the 'Oligocene drowning' event (approximately 25 mya). We propose that skinks reached New Zealand from New Caledonia via long-distance overwater dispersal, with C. lichenigera persisting on volcanic islands along the Lord Howe Rise and Norfolk Ridge. Eight major genetic clades are evident within the New Zealand skink fauna, with the divergences among these clades during the early to mid-Miocene resulting in distinct open habitat, forest, and coastal radiations. Subsequent diversification in the late Miocene-Pliocene appears to coincide with tectonic activity along the Alpine Fault and the uplift of the Southern Alps. We were unable to resolve the phylogenetic affinities of O. suteri, New Zealand's only native oviparous skink. We use the phylogeny and topology tests to resolve several taxonomic issues and assess the taxonomic status of several suspected undescribed taxa. We complete a generic revision for the New Zealand skink fauna, placing C. lichenigera and all native New Zealand species into a single genus.
Mol Phylogenet Evol 2009 Aug
PMID:Origin, diversification, and systematics of the New Zealand skink fauna (Reptilia: Scincidae). 1934 73

Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes associated with LS in Tunisian patients. We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome. We revealed the presence of 34 reported polymorphisms, nine novel nucleotide variants and two new mutations (T5523G and A5559G) in the tested patients. These two mutations were localized in two conserved regions of the tRNA(Trp) and affect, respectively, the D-stem and the T-stem of the mitochondrial tRNA leading to a disruption of the secondary structure of this tRNA. SSP-PCR analysis showed that the T5523G and A5559G mutations were present with respective heteroplasmic rates of 66% and 43 %. We report here the first mutational screening of mitochondrial mutations in Tunisian patients with Leigh syndrome which described two novel mutations associated with this disorder.
Mol Genet Metab 2009 Jul
PMID:Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. 1934


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