Mitochondrial Control Region Sequences Research Articles

Ancient DNA sequences point to a large loss of mitochondrial genetic diversity in the saiga antelope (Saiga tatarica) since the Pleistocene

Prior to the Holocene, the range of the saiga antelope (Saiga tatarica) spanned from France to the Northwest Territories of Canada. Although its distribution subsequently contracted to the steppes of Central Asia, historical records indicate that it remained extremely abundant until the end of the Soviet Union, after which its populations were reduced by over 95%. We have analysed the mitochondrial control region sequence variation of 27 ancient and 38 modern specimens, to assay how the species' genetic diversity has changed since the Pleistocene. Phylogenetic analyses reveal the existence of two well-supported, and clearly distinct, clades of saiga. The first, spanning a time range from >49,500 (14) C ybp to the present, comprises all the modern specimens and ancient samples from the Northern Urals, Middle Urals and Northeast Yakutia. The second clade is exclusive to the Northern Urals and includes samples dating from between 40,400 to 10,250 (14) C ybp. Current genetic diversity is much lower than that present during the Pleistocene, an observation that data modelling using serial coalescent indicates cannot be explained by genetic drift in a population of constant size. Approximate Bayesian Computation analyses show the observed data is more compatible with a drastic population size reduction (c. 66-77%) following either a demographic bottleneck in the course of the Holocene or late Pleistocene, or a geographic fragmentation (followed by local extinction of one subpopulation) at the Holocene/Pleistocene transition.

Genetic diversity and population structure of Marsh Grassbird (Locustella pryeri sinensis) in China

We used sequences of mitochondrial control region (807bp) in 75 samples from three breeding colonies and one wintering population to investigate the genetic diversity and population structure of Marsh Grassbird (Locustella pryeri sinensis) in different regions of China. Marsh Grassbird retained a moderate amount of haplotype (0.759 ± 0.056) and nucleotide diversity (0.002). The results of F ST among 3 phylogeographic units and Φ ST between breeding and wintering sites revealed little evidence of genetic distinction between different colonies. Neither UPGMA tree structure analysis nor Network picture analysis showed obvious divergence between populations at different locations. Analysis of molecular variance also showed a lack of regional subdivision within Locustella pryeri sinesis, 98.5% of source of variation within populations and only 1.5% among populations. The neutrality test showed negative Fu’s FS value, which, in combination with detection of the mismatch distribution, suggested that population expansion occurred in the evolutionary history of this species. This hypothesis was further supported by Tajima’s D test and Fu’s test (D = −1.80, p = 0.02; Fs = −22.11, p = 0.001), this expansion was estimated to occur about 28,700 years ago.

Rapid parallel adaptive radiations from a single hybridogenic ancestral population

The Alpine lake whitefish (Coregonus lavaretus) species complex is a classic example of a recent radiation, associated with colonization of the Alpine lakes following the glacial retreat (less than 15 kyr BP). They have formed a unique array of endemic lake flocks, each with one to six described sympatric species differing in morphology, diet and reproductive ecology. Here, we present a genomic investigation of the relationships between and within the lake flocks. Comparing the signal between over 1000 AFLP loci and mitochondrial control region sequence data, we use phylogenetic tree-based and population genetic methods to reconstruct the phylogenetic history of the group and to delineate the principal centres of genetic diversity within the radiation. We find significant cytonuclear discordance showing that the genomically monophyletic Alpine whitefish clade arose from a hybrid swarm of at least two glacial refugial lineages. Within this radiation, we find seven extant genetic clusters centred on seven lake systems. Most interestingly, we find evidence of sympatric speciation within and parallel evolution of equivalent phenotypes among these lake systems. However, we also find the genetic signature of human-mediated gene flow and diversity loss within many lakes, highlighting the fragility of recent radiations.

Distinctiveness of declining northern populations of Blanchard’s Cricket Frog (Acris blanchardi) justifies recovery efforts

Peripheral populations of widespread species are often considered unworthy of conservation efforts; however, they may be adapted to the conditions found at the range edge and are therefore important to the future evolutionary potential of the species. Blanchard’s Cricket Frog (Acris blanchardi Harper, 1947) is widespread and abundant throughout the central United States, but is declining at the northern edge of its range. To assess the distinctiveness and conservation value of the northern populations, we investigated the spatial genetic structure and phylogeography of this anuran using mitochondrial control region sequences. Analysis of 479 individuals identified 101 haplotypes, with relatively low nucleotide diversity. Two moderately divergent clades were found. One was restricted to the southwest, which was probably a refugium during the Pleistocene, whereas the other occurred primarily across the north and is likely the result of postglacial colonization. The genetic distinctiveness of northern populations indicates the potential for adaptive differences of individuals in this region relative to those in the south. We therefore conclude that conservation efforts are justified for the declining northern populations of Blanchard’s Cricket Frog, and we use the spatial genetic structure described here to develop specific recommendations for this anuran.

Genetic diversity, relationships and demographic history of the small yellow croaker, Larimichthys polyactis (Pisces: Sciaenidae) from Korea and China inferred from mitochondrial control region sequence data

Genetic variation was surveyed at the mitochondrial control region (766bp) to test for the presence of genetic stock structure in the small yellow croaker, Larimichthys polyactis from the Yellow and East China Seas. Individuals of the small yellow croaker could not be distinguished on the basis of its location, as demonstrated using the neighbor-joining (NJ) method, unweighted pair-group method, arithmetic average (UPGMA) and the minimum spanning network (MSN). Analysis of molecular variance revealed no significant differences among collections of the small yellow croaker taken from the four locations (two locations each in Korea and China). Neutrality tests and a mismatch distribution analysis indicated that this species has recently expanded. Our findings suggest either that the small yellow croaker has a high migration capability that enables it to overcome the effects of genetic drift, or that this species expanded relatively recently and has not yet had sufficient time to differentiate.

GEOGRAPHIC VARIATION IN THE SONGS OF NEOTROPICAL SINGING MICE: TESTING THE RELATIVE IMPORTANCE OF DRIFT AND LOCAL ADAPTATION

Patterns of geographic variation in communication systems can provide insight into the processes that drive phenotypic evolution. Although work in birds, anurans, and insects demonstrates that acoustic signals are sensitive to diverse selective and stochastic forces, processes that shape variation in mammalian vocalizations are poorly understood. We quantified geographic variation in the advertisement songs of sister species of singing mice, montane rodents with a unique mode of vocal communication. We tested three hypotheses to explain spatial variation in the song of the lower altitude species, Scotinomys teguina: selection for species recognition in sympatry with congener, S. xerampelinus, acoustic adaptation to different environments, and stochastic divergence. Mice were sampled at seven sites in Costa Rica and Panamá; genetic distances were estimated from mitochondrial control region sequences, between-site differences in acoustic environment were estimated from climatic data. Acoustic, genetic and geographic distances were all highly correlated in S. teguina, suggesting that population differentiation in song is largely shaped by genetic drift. Contrasts between interspecific genetic-acoustic distances were significantly greater than expectations derived from intraspecific contrasts, indicating accelerated evolution of species-specific song. We propose that, although much intraspecific acoustic variation is effectively neutral, selection has been important in shaping species differences in song.

Demographic History and Population Structure of Blackfin Flounder (Glyptocephalus stelleri) in Japan Revealed by Mitochondrial Control Region Sequences

The demographic history and population genetic structure of the blackfin flounder (Glyptocephalus stelleri) along coastal regions of Japan were investigated. Genetic variation in DNA sequences was examined from the first hypervariable region of the mitochondrial DNA control region. A high level of haplotypic diversity (h = 0.99 +/- 0.004) was detected, indicating a high level of intrapopulation genetic diversity. The starburst structure of the minimum spanning tree suggested a very recent origin for most haplotypes. The demographic history of G. stelleri was examined using neutrality tests and mismatch distribution analysis, which also indicated a Pleistocene population expansion at about 124,100-413,400 years ago. Hierarchical molecular variance analysis and conventional population Fst comparisons revealed no significant genetic differentiation throughout the range examined.

DNA Barcodes of Arabian Partridge and Philby's Rock Partridge: Implications for Phylogeny and Species Identification

Recently, DNA barcoding based on mitochondrial cytochrome c oxidase subunit I (COI) has gained wide attention because of simplicity and robustness of these barcodes for species identification including birds. The current GenBank records show the COI barcodes of only one species, chukar partridge (Alectoris chukar), of the Alectoris genus. In this study, we sequenced the 694 bp segment of COI gene of the two species including, Arabian partridge (Alectoris melanocephala) and Philby’s rock partridge (Alectoris philbyi) of the same genus. We also compared these sequences with earlier published barcodes of chukar partridge. The pair-wise sequence comparison showed a total of 53 variable sites across all the 9 sequences from 3 species. Within-species variable sites were found to be 4 (Alectoris chukar), 0 (Alectoris philbyi) and 3 (Alectoris melanocephala). The genetic distances among the 9 individuals varied from 0.000 to 0.056. Phylogenetic analysis using COI barcodes clearly discriminated the 3 species, while Alectoris chukar was found to be more closely related to Alectoris philbyi. Similar differentiation was also observed using 1155 bp mitochondrial control region (CR) sequences suggesting the efficiency of COI gene for phylogenetic reconstruction and interspecific identification. This is the first study reporting the barcodes of Arabian partridge and Philby’s rock partridge.

Phylogeography of wolves (Canis lupus) in the Pacific Northwest

Glacial cycles in the late Pleistocene played a dominant role in sculpting the evolutionary histories of many high-latitude organisms. The refugial hypothesis argues that populations retracted during glacial maxima and were isolated in separate refugia. One prediction of this hypothesis is that populations inhabiting different refugia diverged and then, during interglacial periods, rapidly expanded into deglaciated regions. The range of the gray wolf (Canis lupus) was modified by these expansion and contraction cycles in the late Pleistocene. Our analyses of variation of mitochondrial control region sequences corroborate previous microsatellite analyses supporting independent evolutionary histories for Coastal and Continental wolves in North America. Coastal wolves represent the remnants of a formerly widespread and diverse southern clade that expanded into coastal Southeast Alaska, likely in the early Holocene. In contrast, extant northern Continental populations appear to be admixed, composed of lineages independently arising from ancestors that persisted in either southern or northern (Beringia) refugia. This pattern of diversification suggests the possibility of 3 temporally independent colonizations of North America by wolves from Asia. Coastal wolves are the last vestige of a formerly widespread phylogroup that largely was extirpated in North America by humans during the last century. The independent phylogeographic history of these Coastal wolves has yet to be characterized. Their distinctiveness among North American wolf populations may warrant a reevaluation of their conservation status and management.

Genetic variation and evolutionary demography of Fenneropenaeus chinensis populations, as revealed by the analysis of mitochondrial control region sequences

Genetic variation and evolutionary demography of the shrimp Fenneropenaeus chinensis were investigated using sequence data of the complete mitochondrial control region (CR). Fragments of 993 bp of the CR were sequenced for 93 individuals from five localities over most of the species' range in the Yellow Sea and the Bohai Sea. There were 84 variable sites defining 68 haplotypes. Haplotype diversity levels were very high (0.95 ± 0.03-0.99 ± 0.02) in F. chinensis populations, whereas those of nucleotide diversity were moderate to low (0.66 ± 0.36%-0.84 ± 0.46%). Analysis of molecular variance and conventional population statistics (FST ) revealed no significant genetic structure throughout the range of F. chinensis. Mismatch distribution, estimates of population parameters and neutrality tests revealed that the significant fluctuations and shallow coalescence of mtDNA genealogies observed were coincident with estimated demographic parameters and neutrality tests, in implying important past-population size fluctuations or range expansion. Isolation with Migration (IM) coalescence results suggest that F. chinensis, distributed along the coasts of northern China and the Korean Peninsula (about 1000 km apart), diverged recently, the estimated time-split being 12,800 (7,400-18,600) years ago.

Restricted dispersal in a continuously distributed marine species: common bottlenose dolphinsTursiops truncatusin coastal waters of the western North Atlantic

The marine environment provides an opportunity to examine population structure in species with high dispersal capabilities and often no obvious barriers to genetic exchange. In coastal waters of the western North Atlantic, common bottlenose dolphins, Tursiops truncatus, are a highly mobile species with a continuous distribution from New York to Florida. We examine if the highly mobile nature coupled with no obvious geographic barriers to movement in this region result in a large panmictic population. Mitochondrial control region sequences and 18 microsatellite loci indicate dolphins are partitioning the habitat both latitudinally and longitudinally. A minimum of five genetically differentiated populations were identified among 404 samples collected in the range of New Jersey to northern Florida using both genetic marker types, some inhabiting nearshore coastal waters and others utilizing inshore estuarine waters. The genetic results reject the hypothesis of a single stock of coastal bottlenose dolphins put forth after the 1987-1988 epizootic that caused a large-scale die-off of dolphins and suggest instead the disease vector was transferred from one population to the next as a result of seasonal migratory movements of some populations. These coastal Atlantic populations also differ significantly from bottlenose dolphin samples collected in coastal waters of the northern Gulf of Mexico, implying a long-term barrier to movement between the two basins.

Tracking the fin trade: genetic stock identification in western Atlantic scalloped hammerhead sharks Sphyrna lewini

Location or stock-specific landing data are necessary to improve management of shark stocks, especially those imperiled by overexploitation as a result of the international shark fin trade. In the current absence of catch monitoring directly at extraction sites, genetic stock identification of fins collected from major market supply chain endpoints offers an overlooked but potentially useful approach for tracing the fins back to their geographical, or stock of, origin. To demonstrate the feasi- bility of this approach, we used mitochondrial control region (mtCR) sequences to trace the broad geographical origin of 62 Hong Kong market-derived Sphyrna lewini fins. Of these fins 21% were derived from the western Atlantic, where this species is listed as 'Endangered' by the International Union for the Conservation of Nature (IUCN). We also show that S. lewini mtCR sequences are geo- graphically segregated in the western Atlantic (overall ΦST = 0.74, n = 177 sharks), indicating that breeding females either remain close to, or home back to, their natal region for parturition. Mixed stock analysis simulations showed that it is possible to estimate the relative contributions of these mitochondrial stocks to fin mixtures in globally sourced trade hubs. These findings underscore the feasibility of using genetic stock identification to source market-derived shark fins to obtain essential and otherwise unavailable data on exploitation levels, and thus to productively inform stock assess- ment and management of S. lewini and potentially also of other fished shark species.

It's not too Late for the Harpy Eagle (Harpia harpyja): High Levels Of Genetic Diversity and Differentiation Can Fuel Conservation Programs

BackgroundThe harpy eagle (Harpia harpyja) is the largest Neotropical bird of prey and is threatened by human persecution and habitat loss and fragmentation. Current conservation strategies include local education, captive rearing and reintroduction, and protection or creation of trans-national habitat blocks and corridors. Baseline genetic data prior to reintroduction of captive-bred stock is essential for guiding such efforts but has not been gathered previously.Methodology/FindingsWe assessed levels of genetic diversity, population structure and demographic history for harpy eagles using samples collected throughout a large portion of their geographic distribution in Central America (n = 32) and South America (n = 31). Based on 417 bp of mitochondrial control region sequence data, relatively high levels of haplotype and nucleotide diversity were estimated for both Central and South America, although haplotype diversity was significantly higher for South America. Historical restriction of gene flow across the Andes (i.e. between our Central and South American subgroups) is supported by coalescent analyses, the haplotype network and significant F ST values, however reciprocally monophyletic lineages do not correspond to geographical locations in maximum likelihood analyses. A sudden population expansion for South America is indicated by a mismatch distribution analysis, and further supported by significant (p<0.05) negative values of Fu and Li's DF and F, and Fu's F S. This expansion, estimated at approximately 60 000 years BP (99 000–36 000 years BP 95% CI), encompasses a transition from a warm and dry time period prior to 50 000 years BP to an interval of maximum precipitation (50 000–36 000 years BP). Notably, this time period precedes the climatic and habitat changes associated with the last glacial maximum. In contrast, a multimodal distribution of haplotypes was observed for Central America suggesting either population equilibrium or a recent decline.SignificanceHigh levels of mitochondrial genetic diversity in combination with genetic differentiation among subgroups within regions and between regions highlight the importance of local population conservation in order to preserve maximal levels of genetic diversity in this species. Evidence of historically restricted female-mediated gene flow is an important consideration for captive-breeding programs.

Farmed arctic foxes on the Fennoscandian mountain tundra: implications for conservation

AbstractHybridization between wild and captive‐bred individuals is a serious conservation issue that requires measures to prevent negative effects. Such measures are, however, often considered controversial by the public, especially when concerning charismatic species. One of the threats to the critically endangered Fennoscandian arctic fox Alopex lagopus is hybridization with escaped farm foxes, conveying a risk of outbreeding depression through loss of local adaptations to the lemming cycle. In this study, we investigate the existence of escaped farm foxes among wild arctic foxes and whether hybridization has occurred in the wild. We analysed mitochondrial control region sequences and 10 microsatellite loci in samples from free‐ranging foxes and compared them with reference samples of known farm foxes and true Fennoscandian arctic foxes. We identified the farm fox specific mitochondrial haplotype H9 in 25 out of 182 samples, 21 of which had been collected within or nearby the wild subpopulation on Hardangervidda in south‐western Norway. Genetic analyses of museum specimens collected on Hardangervidda (1897–1975) suggested that farm fox genotypes have recently been introduced to the area. Principal component analysis as well as both model‐ and frequency‐based analyses of microsatellite data imply that the free‐ranging H9s were farm foxes rather than wild arctic foxes and that the entire Hardangervidda population consisted of farm foxes or putative hybrids. We strongly recommend removal of farm foxes and hybrids in the wild to prevent genetic pollution of the remaining wild subpopulations of threatened arctic foxes.

The youngest split in sympatric schizothoracine fish (Cyprinidae) is shaped by ecological adaptations in a Tibetan Plateau glacier lake

Although new empirical evidence shows that sympatric speciation has occurred in some species, there are few indisputable model organisms for this process of speciation. The two subspecies (Gymnocypris eckloni eckloni and G. e. scoliostomus) of the schizothoracine Gymnocypris fish species complex from a small glacier lake in the Tibetan Plateau, Lake Sunmcuo, fit several of the key characteristics of the sympatric speciation model. We used combined mitochondrial control region sequences and the cytochrome b gene (1894 bp) to address the phylogenetics and population genetics of 232 specimens of G. e. eckloni and G. e. scoliostomus, as well as all of its closely related sister species. We found that: (i) a total of four old lineages were uncovered in the widespread G. e. eckloni, of which only one was shown to be shared with all G. e. scoliostomus individuals and (ii) the new subspecies (G. e. scoliostomus) evolved in Lake Sunmcuo from the ancestral G. e. eckloni population within approximately 0.057 Ma. These two taxa of the species complex are morphologically distinct, and reproductive isolation is further suggested. Ecological disruptive selection based on morphological traits (e.g. mouth cleft characters) and food utilization may be a mechanism of incipient speciation of two sympatric populations within Lake Sunmcuo. This study provides the first genetic evidence for sympatric speciation in the schizothoracine fish.

Merging ancient and modern DNA: extinct seabird taxon rediscovered in the North Tasman Sea

Ancient DNA has revolutionized the way in which evolutionary biologists research both extinct and extant taxa, from the inference of evolutionary history to the resolution of taxonomy. Here, we present, to our knowledge, the first study to report the rediscovery of an 'extinct' avian taxon, the Tasman booby (Sula tasmani), using classical palaeontological data combined with ancient and modern DNA data. Contrary to earlier work, we show an overlap in size between fossil and modern birds in the North Tasman Sea (classified currently as S. tasmani and Sula dactylatra fullagari, respectively). In addition, we show that Holocene fossil birds have mitochondrial control region sequences that are identical to those found in modern birds. These results indicate that the Tasman booby is not an extinct taxon: S. dactylatra fullagari O'Brien & Davies, 1990 is therefore a junior synonym of Sula tasmani van Tets, Meredith, Fullagar & Davidson, 1988 and all North Tasman Sea boobies should be known as S. d. tasmani. In addition to reporting the rediscovery of an extinct avian taxon, our study highlights the need for researchers to be cognizant of multidisciplinary approaches to understanding taxonomy and past biodiversity.

Population genetic analysis reveals a long‐term decline of a threatened endemic Australian marsupial

Since European colonization, Leadbeater's possum (Gymnobelideus leadbeateri) has declined across its range to the point where it is now only patchily distributed within the montane ash forests of the Central Highlands of Victoria. The loss of large hollow-bearing trees coupled with inadequate recruitment of mature ash forest has been predicted to result in a reduction in population size of up to 90% by 2020. Furthermore, bioclimatic analyses have suggested additional reductions in the species' distribution under a variety of climate change scenarios. Using a panel of 15 highly resolving microsatellite markers and mitochondrial control region sequence data, we infer past and present gene flow. Populations in the northern part of the core range were highly admixed, and showed no signs of either current or historical barriers to gene flow. A marginal, isolated and inbred population at Yellingbo was highly genetically differentiated, both in terms of current and historic genetic structure. Sequence data confirmed the conclusions from earlier genetic simulation studies that the Yellingbo population has been isolated from the rest of the species range since before European-induced changes to the montane landscape, and formed part of a larger genetic unit that is now otherwise extinct. Historic loss of maternal lineages in the Central Highlands of Victoria was detected despite signals of immigration, indicating population declines that most probably coincided with changes in climate at the end of the Pleistocene. Given ongoing habitat loss and the recent (February 2009) wildfire in the Central Highlands, we forecast (potentially extensive) demographic declines, in line with predicted range reductions under climate change scenarios.

Big and Slow: Phylogenetic Estimates of Molecular Evolution in Baleen Whales (Suborder Mysticeti)

Baleen whales are the largest animals that have ever lived. To develop an improved estimation of substitution rate for nuclear and mitochondrial DNA for this taxon, we implemented a relaxed-clock phylogenetic approach using three fossil calibration dates: the divergence between odontocetes and mysticetes approximately 34 million years ago (Ma), between the balaenids and balaenopterids approximately 28 Ma, and the time to most recent common ancestor within the Balaenopteridae approximately 12 Ma. We examined seven mitochondrial genomes, a large number of mitochondrial control region sequences (219 haplotypes for 465 bp) and nine nuclear introns representing five species of whales, within which multiple species-specific alleles were sequenced to account for within-species diversity (1-15 for each locus). The total data set represents >1.65 Mbp of mitogenome and nuclear genomic sequence. The estimated substitution rate for the humpback whale control region (3.9%/million years, My) was higher than previous estimates for baleen whales but slow relative to other mammal species with similar generation times (e.g., human-chimp mean rate > 20%/My). The mitogenomic third codon position rate was also slow relative to other mammals (mean estimate 1%/My compared with a mammalian average of 9.8%/My for the cytochrome b gene). The mean nuclear genomic substitution rate (0.05%/My) was substantially slower than average synonymous estimates for other mammals (0.21-0.37%/My across a range of studies). The nuclear and mitogenome rate estimates for baleen whales were thus roughly consistent with an 8- to 10-fold slowing due to a combination of large body size and long generation times. Surprisingly, despite the large data set of nuclear intron sequences, there was only weak and conflicting support for alternate hypotheses about the phylogeny of balaenopterid whales, suggesting that interspecies introgressions or a rapid radiation has obscured species relationships in the nuclear genome.

Genetic variation in Irish pygmy shrews Sorex minutus (Soricomorpha: Soricidae): implications for colonization history

The status of the pygmy shrew (Sorex minutus L.) as a native or an introduced species in Ireland has been subject to much debate. To examine this and other aspects of the colonization history of the Irish pygmy shrew, genetic variation was determined in 247 pygmy shrews collected throughout Ireland, using mitochondrial control region sequences and five polymorphic microsatellite loci. Genetic diversity was low for both types of marker. The median-joining network for control region sequences was star-like, suggesting that the colonization of Ireland involved a small number of founders and rapid population expansion thereafter; this was supported by other statistics. Molecular dating with both mitochondrial DNA and microsatellite data is consistent with a human introduction. This would have been several thousand years ago; a recent colonization within historical times can be ruled out. This is the first detailed population genetic study of the pygmy shrew anywhere in its range. © 2009 The Linnean Society of London, Biological Journal of the Linnean Society, 2009, 97, 918–927.

Mitochondrial control region sequences from an African American population sample

Entire mitochondrial control region data were generated for 248 African American individuals, which had been previously typed for 15 autosomal STRs [J.M. Butler, R. Schoske, P.M. Vallone, J.W. Redman, M.C. Kline, Allele frequencies for 15 autosomal STR loci on U.S. Caucasian, African American, and Hispanic populations, J. Forensic Sci. 48 (2003) 908–911].