Genetic diversity and genomic inbreeding in Japanese Black cows in the islands of Okinawa Prefecture evaluated using single-nucleotide polymorphism array.

Maintaining genetic diversity and inbreeding control are important in Japanese Black cattle production, especially in remote areas such as the islands of Okinawa Prefecture. Using a single-nucleotide polymorphism (SNP) array, we evaluated the genetic diversity and genomic inbreeding in Japanese Black cows from the islands of Okinawa Prefecture and compared them to those from other locations across Japan. Linkage disequilibrium decay was slower in cows in the islands of Okinawa Prefecture. The estimated effective population size declined over time in both populations. The genomic inbreeding coefficient (FROH ) was estimated using long stretches of consecutive homozygous SNPs (runs of homozygosity; ROH). FROH was higher in the cows on the islands of Okinawa Prefecture than on other locations. In total, 818 ROH fragments, including those containing NCAPG and PLAG1, which are major quantitative trait loci for carcass weight in Japanese Black cattle, were present at significantly higher frequencies in cows in the islands of Okinawa Prefecture. This suggests that the ROH fragments are under strong selection and that cows in the islands of Okinawa Prefecture have low genetic diversity and high genomic inbreeding relative to those at other locations. SNP arrays are useful tools for evaluating genetic diversity and genomic inbreeding in cattle.

Mixing rates in weakly differentiated stocks of greater amberjack (Seriola dumerili) in the Gulf of Mexico.

The greater amberjack (Seriola dumerili) is a commercially and recreationally important marine fish species in the southeastern United States, where it has been historically managed as two non-mixing stocks (Gulf of Mexico and Atlantic). Mark-recapture studies and analysis of mitochondrial DNA have suggested the two stocks are demographically independent; however, little is currently known about when and where spawning occurs in Gulf of Mexico amberjack, and whether stock mixture occurs on breeding grounds. The primary objective of this study was to quantify stock mixture among breeding populations of amberjack collected from the Atlantic and Gulf of Mexico. Genetic data based on 11 loci identified very low, though statistically significant differentiation among Gulf of Mexico samples (GST = 0.007, [Formula: see text] = 0.009; all P = 0.001) and between reproductive adults collected from two spawning areas (GST = 0.007, [Formula: see text] = 0.014; all P = 0.001). Naïve Bayesian mixture analysis supported a single genetic cluster [p(S|data) = 0.734] whereas trained clustering (using Atlantic and Gulf spawning fish) gave the highest support to a two-cluster model (p(S|data) = 1.0). Our results support the argument that the genetic structuring of greater amberjack is more complex than the previously assumed two, non-mixing stock model. Although our data provide evidence of limited population structure, we argue in favour of non-panmixia among reproductive fish collected from the Gulf of Mexico and Florida Keys.

Stochastic analysis of the extra clustering model for animal grouping.

We consider the extra clustering model which was introduced by Durand et al. (J Theor Biol 249(2):262-270, 2007) in order to describe the grouping of social animals and to test whether genetic relatedness is the main driving force behind the group formation process. Durand and François (J Math Biol 60(3):451-468, 2010) provided a first stochastic analysis of this model by deriving (amongst other things) asymptotic expansions for the mean value of the number of groups. In this paper, we will give a much finer analysis of the number of groups. More precisely, we will derive asymptotic expansions for all higher moments and give a complete characterization of the possible limit laws. In the most interesting case (neutral model), we will prove a central limit theorem with a surprising normalization. In the remaining cases, the limit law will be either a mixture of a discrete and continuous law or a discrete law. Our results show that, except of in degenerate cases, strong concentration around the mean value takes place only for the neutral model, whereas in the remaining cases there is also mass concentration away from the mean.

ProCARs: Progressive Reconstruction of Ancestral Gene Orders.

BACKGROUND: In the context of ancestral gene order reconstruction from extant genomes, there exist two main computational approaches: rearrangement-based, and homology-based methods. The rearrangement-based methods consist in minimizing a total rearrangement distance on the branches of a species tree. The homology-based methods consist in the detection of a set of potential ancestral contiguity features, followed by the assembling of these features into Contiguous Ancestral Regions (CARs). RESULTS: In this paper, we present a new homology-based method that uses a progressive approach for both the detection and the assembling of ancestral contiguity features into CARs. The method is based on detecting a set of potential ancestral adjacencies iteratively using the current set of CARs at each step, and constructing CARs progressively using a 2-phase assembling method. CONCLUSION: We show the usefulness of the method through a reconstruction of the boreoeutherian ancestral gene order, and a comparison with three other homology-based methods: AnGeS, InferCARs and GapAdj. The program, written in Python, and the dataset used in this paper are available at http://bioinfo.lifl.fr/procars/.

Prioritizing tiger conservation through landscape genetics and habitat linkages.

Even with global support for tiger (Panthera tigris) conservation their survival is threatened by poaching, habitat loss and isolation. Currently about 3,000 wild tigers persist in small fragmented populations within seven percent of their historic range. Identifying and securing habitat linkages that connect source populations for maintaining landscape-level gene flow is an important long-term conservation strategy for endangered carnivores. However, habitat corridors that link regional tiger populations are often lost to development projects due to lack of objective evidence on their importance. Here, we use individual based genetic analysis in combination with landscape permeability models to identify and prioritize movement corridors across seven tiger populations within the Central Indian Landscape. By using a panel of 11 microsatellites we identified 169 individual tigers from 587 scat and 17 tissue samples. We detected four genetic clusters within Central India with limited gene flow among three of them. Bayesian and likelihood analyses identified 17 tigers as having recent immigrant ancestry. Spatially explicit tiger occupancy obtained from extensive landscape-scale surveys across 76,913 km(2) of forest habitat was found to be only 21,290 km(2). After accounting for detection bias, the covariates that best explained tiger occupancy were large, remote, dense forest patches; large ungulate abundance, and low human footprint. We used tiger occupancy probability to parameterize habitat permeability for modeling habitat linkages using least-cost and circuit theory pathway analyses. Pairwise genetic differences (FST) between populations were better explained by modeled linkage costs (r>0.5, p<0.05) compared to Euclidean distances, which was in consonance with observed habitat fragmentation. The results of our study highlight that many corridors may still be functional as there is evidence of contemporary migration. Conservation efforts should provide legal status to corridors, use smart green infrastructure to mitigate development impacts, and restore habitats where connectivity has been lost.

Estimation of male gene flow from measures of nuclear and female genetic differentiation.

An approach is provided to estimate male gene flow and the ratio of male to female gene flow, given that there are estimates of diploid, nuclear gene flow and haploid, female gene flow. This approach can be applied to estimates of differentiation (F ST ) from biparentally and maternally inherited markers, assuming the equilibrium island model and equal effective numbers of males and females. Corrections to formulas used previously for California sea lions (González-Suárez M, Flatz R, Aurioles-Gamboa D, Hedrick PW, Gerber LR. 2009. Isolation by distance among California sea lion populations in Mexico: redefining management stocks. Mol Ecol. 18:1088-1099.) and American bison (Halbert ND, Gogan PJP, Hedrick PW, Wahl L, Derr JN. 2012. Genetic population substructure in bison in Yellowstone National Park. J Hered. 103:360-370.) are given and revised values for those species are calculated. The effect of unequal male and female effective population sizes, nonequilibrium conditions, and approximations of differentiation formulas are briefly discussed.

Male-biased dispersal causes intersexual differences in the subpopulation structure of the gray-sided vole.

The genetic structure of gray-sided voles was investigated at a spatial scale of 2 km using mtDNA sequences. The control region (674bp) of 162 voles was sequenced and 18 haplotypes were identified. Within 0.5-ha trapping plots (n = 8), the number of haplotypes and gene diversity was significantly greater in males than in females. The fixation index among plots for females (F GP = 0.241) was 3 times as large as that for males (0.075), implying male-biased dispersal. A simulation analysis showed that the observed genetic structure in males could be generated by modifying the observed haplotype distribution of females by adding the effects of local male dispersal. Half of the pairwise F GP (15/28) showed significant differentiation in females, whereas almost none (1/28) were significant in males. Isolation by distance was observed in females, whereas no clear spatial pattern was observed in males. Most pairwise F GP for females were not significant in the short- and intermediate-distance classes (≤1.0 km) as with those for males, whereas all showed significant differentiation in the long-distance class (>1.0 km) for females, but not for males. These findings indicate that the extent of subpopulations within which individuals interact differs between sexes.

Population genetics of the Washington National Primate Research Center's (WaNPRC) captive pigtailed macaque (Macaca nemestrina) population.

Pigtailed macaques (Macaca nemestrina) provide an important model for biomedical research on human disease and for studying the evolution of primate behavior. The genetic structure of captive populations of pigtailed macaques is not as well described as that of captive rhesus (M. mulatta) or cynomolgus (M. fascicularis) macaques. The Washington National Primate Research Center houses the largest captive colony of pigtailed macaques located in several different housing facilities. Based on genotypes of 18 microsatellite (short tandem repeat [STR]) loci, these pigtailed macaques are more genetically diverse than captive rhesus macaques and exhibit relatively low levels of inbreeding. Colony genetic management facilitates the maintenance of genetic variability without compromising production goals of a breeding facility. The periodic introduction of new founders from specific sources to separate housing facilities at different times influenced the colony's genetic structure over time and space markedly but did not alter its genetic diversity significantly. Changes in genetic structure over time were predominantly due to the inclusion of animals from the Yerkes National Primate Research Center in the original colony and after 2005. Strategies to equalize founder representation in the colony have maximized the representation of the founders' genomes in the extant population. Were exchange of animals among the facilities increased, further differentiation could be avoided. The use of highly differentiated animals may confound interpretations of phenotypic differences due to the inflation of the genetic contribution to phenotypic variance of heritable traits.

Effect of temperature on behavioural isolation: a study with Drosophila ananassae populations.

Experiments were conducted to study sexual isolation among two natural populations of Drosophila ananassae maintained at 18 degrees C and 24 degrees C for 12 generations in the laboratory to see the effect of this environmental variable on behavioural isolation. Multiple choice technique was used and matings were observed directly in Elens Wattiaux mating chamber. Results showed sexual isolation among strains that were maintained at different temperatures, indicating that temperature may have affected the mating behaviour of the flies which resulted in the induction of ethological isolation among the strains.

Genetic structure and inferences on potential source areas for Bactrocera dorsalis (Hendel) based on mitochondrial and microsatellite markers.

Bactrocera dorsalis (Diptera: Tephritidae) is mainly distributed in tropical and subtropical Asia and in the Pacific region. Despite its economic importance, very few studies have addressed the question of the wide genetic structure and potential source area of this species. This pilot study attempts to infer the native region of this pest and its colonization pathways in Asia. Combining mitochondrial and microsatellite markers, we evaluated the level of genetic diversity, genetic structure, and the gene flow among fly populations collected across Southeast Asia and China. A complex and significant genetic structure corresponding to the geographic pattern was found with both types of molecular markers. However, the genetic structure found was rather weak in both cases, and no pattern of isolation by distance was identified. Multiple long-distance dispersal events and miscellaneous host selection by this species may explain the results. These complex patterns may have been influenced by human-mediated transportation of the pest from one area to another and the complex topography of the study region. For both mitochondrial and microsatellite data, no signs of bottleneck or founder events could be identified. Nonetheless, maximal genetic diversity was observed in Myanmar, Vietnam and Guangdong (China) and asymmetric migration patterns were found. These results provide indirect evidence that the tropical regions of Southeast Asia and southern coast of China may be considered as the native range of the species and the population expansion is northward. Yunnan (China) is a contact zone that has been colonized from different sources. Regions along the southern coast of Vietnam and China probably served to colonize mainly the southern region of China. Southern coastal regions of China may also have colonized central parts of China and of central Yunnan.

[Karyofunds of Chironomus plumosus (L.) (Diptera, Chironomidae). V. terminal and interstitial populations].

The study of polytene chromosomes of Chironomus plumosus from Rybinsk reservoir, its inflows and surrounding water bodies allow to mark out two type's of population. Terminal populations--presented by karyoforms with concrete limited composition of genotype combinations and zygotic arm combinations, which adapted to specific complex of the habitat factors. The immediate exchange of genes between different terminal populations is absent (even they placed in nearness) from allochronie of life cycles and impossibility of larvae-immigrants to finish ontogenesis in unfit for they habitat conditions. Interstitial populations inhabit the biotopes, where the karyoforms of two or more terminal populations can to finish ontogenesis and to reproduce. The genetic exchange between terminal population implement through interstitial populations.

Evolution in heterogeneous environments: between soft and hard selection.

Since their first formulations about half a century ago, the soft and hard selection models have become classical frameworks to study selection in subdivided populations. These models differ in the timing of density regulation and represent two extreme types of selection: density- and frequency-dependent selection (soft) and density- and frequency-independent selection (hard). Yet only few attempts have been made so far to model intermediate scenarios. Here, we design a model where migration may happen twice during the life cycle: before density regulation with probability d(J) (juvenile migration) and after density regulation with probability d(A) (adult migration). In the first step, we analyze the conditions for the coexistence of two specialists. We find that coexistence is possible under a large range of selection types, even when environmental heterogeneity is low. Then, we investigate the different possible outcomes obtained through gradual evolution. We show that polymorphism is more likely to evolve when the trade-off is weak, environmental heterogeneity is high, migration is low, and in particular when juvenile migration is low relative to adult migration, because the timing of migration affects the magnitude of frequency-dependent selection relative to gene flow. This model may provide a more general theoretical framework to experimentally study evolution in heterogeneous environments.

Polymorphism in exons of the myostatin gene and its relationship with body weight traits in the Bian chicken.

In our research, single nucleotide polymorphisms (SNPs) of exon regions of the myostatin gene were detected by PCR-SSCP in the Bian chicken and three reference chicken populations (Jinghai, Youxi, and Arbor Acre). Four novel SNPs (G2283A, C7552T, C7638T, and T7661A) were detected. The findings from the least square means showed that Bian chickens with EE and DE genotypes had significantly higher body weight, at 6-18 weeks of age, than those of the DD genotype (P < 0.05). The results suggest that the mutation G2283A, detected in exon 1, has potential as a genetic marker for body weight traits in the Bian chicken.

[Some problems of the evolutionary adaptatiogenesis].

Evolution of organisms is adaptive process as a whole, but its adaptiveness is fully revealed in long periods of phylogenesis. To form the complex adaptations, the phyletic evolution is more favourable than relatively short-term processes of speciation. Selection can influence on a given character of organism only after achievement of some minimal selectable degree of its development, that is specific for each adaptation. For some complex adaptations, the minimal selectable value of the character can be essentially higher than the initial degree of its expression. In such cases the corresponding adaptations evolve either on the basis of the morpho-functional preadaptations or using some relatively large hereditary changes ("saltations") as the elementary evolutionary material for selection. The negative consequences of such saltations can be mitigated by the compensatory ontogenetic modifications. Elucidation of the minimal selectable value of characters seems to be useful also to evaluate probability of the hypotheses explaining adaptive causes of corresponding evolutionary transformations. The notions of the ecto- and endosomatic organs (after A.N. Severtzov, 1939) are relative ones. The primary evolutionary changes (protallaxes) can arise in any organism system and cause the arising of secondary alterations (deutallaxes, or internal adaptations) in other system.

[Phenogenetic variability and population meronomy].

In accordance with M.A. Shishkin's epigenetic evolutionary theory and S.V. Meyen's concept of meron, N.P. Krenke's "phenogenetic variability" can be considered as a realization of developmentally determined laws of possible transformations of particular characters (morphogenetic realization of meron). It includes two components: deterministic (organizing) one and stochastic (random) one. Organizing includes (epigenetic variability) represents a canalized component of morphogenesis determined by creode structure and arrangement of epigenetic thresholds, which alows to speak about morphogenetic rule of meronomic transformations. Random (realized) variability corresponds with stochastic component of morphogenesis, which makes it possible a spontaneous shifting of available developmental programs and selection of alternative subcreodes. Concepts of "population epigenetic landscape", "population ontogenesis" and "population meronomy" are introduced. Population ontogenesis (PO) can be considered as a peculiar deformation of species developmental program common to all individuals in particular population. This deformation is historically adjusted to concrete environmental conditions by natural selection. PO reflects general set of potential developmental patterns in concrete population, and it should be peculiar and unique one in respect to the whole species. It may be assumed that each individual contains information about invariant population epigenetic landscape (PEL), and thereby discrete individual phenotypes represent a probabilistic copy of general population epigenetic pattern. Analysis of bilateral structures among members of the same generation permits to visualize the principal pattern of PEL. Epigenetic thresholds and constructional bans constrain probable morphogenetic transformations and creates PEL, which is a general rule-cliché that formats total disparity of character states and theirs stochastic manifestation in taxonomic units, populations and individuals. Based on Waddington's ideas of creode, S.V. Meyen introduced concepts of intracreode and extracreode. Population meronomy allows to characterize peculiarities of extracreode of a population or a taxonomic unit while studying intracreodes as intraindividual variability by means of phenetical analysis (reductional stage) and phenogenetic synthesis (compositional stage). In this case we estimate not individual variability (plasticity) proper but generalized population or taxonomic epigenetic diversity of intracreode, which in actually becomes an extracreode. Population-meronomic analysis of bilateral compositions of antimere structure elements allows to construct a natural system of structure transformations and thereby to visualize meronomic diversity and transformation paths of meron.

The pattern of R2 retrotransposon activity in natural populations of Drosophila simulans reflects the dynamic nature of the rDNA locus.

The pattern and frequency of insertions that enable transposable elements to remain active in a population are poorly understood. The retrotransposable element R2 exclusively inserts into the 28S rRNA genes where it establishes long-term, stable relationships with its animal hosts. Previous studies with laboratory stocks of Drosophila simulans have suggested that control over R2 retrotransposition resides within the rDNA loci. In this report, we sampled 180 rDNA loci of animals collected from two natural populations of D. simulans. The two populations were found to have similar patterns of R2 activity. About half of the rDNA loci supported no or very low levels of R2 transcripts with no evidence of R2 retrotransposition. The remaining half of the rDNA loci had levels of R2 transcripts that varied in a continuous manner over almost a 100-fold range and did support new retrotransposition events. Structural analysis of the rDNA loci in 18 lines that spanned the range of R2 transcript levels in these populations revealed that R2 number and rDNA locus size varied 2-fold; however, R2 activity was not readily correlated with either of these parameters. Instead R2 activity was best correlated with the distribution of elements within the rDNA locus. Loci with no activity had larger contiguous blocks of rDNA units free of R2-insertions. These data suggest a model in which frequent recombination within the rDNA locus continually redistributes R2-inserted units resulting in changing levels of R2 activity within individual loci and persistent R2 activity within the population.

Speciation with gene flow in the large white-headed gulls: does selection counterbalance introgression?

We investigated the role of selection in generating and maintaining species distinctness in spite of ongoing gene flow, using two zones of secondary contact between large gull species in Europe (Larus argentatus and Larus cachinnans) and North America (Larus glaucescens and Larus occidentalis). We used the pattern of neutral genetic differentiation at nine microsatellite loci (F(ST)) as an indicator of expected changes under neutral processes and compared it with phenotypic differentiation (P(ST)) for a large number of traits (size, plumage melanism and coloration of bare parts). Even assuming very low heritability, interspecific divergence between L. glaucescens and L. occidentalis in plumage melanism and orbital ring colour clearly exceeded neutral differentiation. Similarly, melanism of the central primaries was highly divergent between L. argentatus and L. cachinnans. Such divergence is unlikely to have arisen randomly and is therefore attributed to spatially varying selection. Variation in plumage melanism in both transects agrees with Gloger's rule, which suggests that latitude (and associated sun and humidity gradients) could be the selective pressure shaping differentiation in plumage melanism. We suggest that strong species differentiation in orbital ring colour results from sexual selection. We conclude that these large gull species, along with other recently diverged species that hybridize after coming into secondary contact, may differ only in restricted regions of the genome that are undergoing strong disruptive selection because of their phenotypic effects.

Genetic diversity and population structure of Scottish Highland red deer (Cervus elaphus) populations: a mitochondrial survey.

The largest population of red deer (Cervus elaphus) in Europe is found in Scotland. However, human impacts through hunting and introduction of foreign deer stock have disturbed the population's genetics to an unknown extent. In this study, we analysed mitochondrial control region sequences of 625 individuals to assess signatures of human and natural historical influence on the genetic diversity and population structure of red deer in the Scottish Highlands. Genetic diversity was high with 74 haplotypes found in our study area (115 x 87 km). Phylogenetic analyses revealed that none of the individuals had introgressed mtDNA from foreign species or subspecies of deer and only suggested a very few localized red deer translocations among British localities. A haplotype network and population analyses indicated significant genetic structure (Phi(ST)=0.3452, F(ST)=0.2478), largely concordant with the geographical location of the populations. Mismatch distribution analysis and neutrality tests indicated a significant population expansion for one of the main haplogroups found in the study area, approximately dated c. 8200 or 16 400 years ago when applying a fast or slow mutation rate, respectively. Contrary to general belief, our results strongly suggest that native Scottish red deer mtDNA haplotypes have persisted in the Scottish Highlands and that the population retains a largely natural haplotype diversity and structure in our study area.

Molecular evolution of cytochrome b in high- and low-altitude deer mice (genus Peromyscus).

Patterns of amino-acid polymorphism in human mitochondrial genes have been interpreted as evidence for divergent selection among populations that inhabit climatically distinct environments. If similar patterns are mirrored in other broadly distributed mammalian species, then adaptive modifications of mitochondrial protein function may be detected in comparisons among locally adapted populations of a single wide-ranging species, or among closely related species that have adapted to different environments. Here, we test for evidence of positive selection on cytochrome b variation within and among species of the ecologically diverse rodent genus Peromyscus. We used likelihood-based comparisons of synonymous and nonsynonymous substitution rates to test for evidence of divergent selection between high- and low-altitude haplogroups of the deer mouse, Peromyscus maniculatus. We also tested for evidence of divergent selection among different species of Peromyscus that inhabit different thermal environments. In contrast to the purported evidence for positive selection on mitochondrial proteins in humans and other nonhuman mammals, results of our tests suggest that the evolution of cytochrome b in Peromyscus is chiefly governed by purifying selection.