Hemoglobin polymorphism in fishes. I. Complex phenotypic patterns in the toadfish,Opsanus tau

Hemolysates of erythrocytes from toadfish (Opsanus tau) are complex mixtures containing 13–18 individual hemoglobin components. Polyacrylamide gel electrophoresis shows that hemoglobin is rather evenly distributed among the bands. Seldom does a single component amount to more than 20% of the total hemolysate. An unusually high degree of polymorphism exists in populations of the toadfish. Six major phenotypes occur commonly at Beaufort, North Carolina, and four of the six phenotypes were present in a sample of 11 toadfish from Gloucester Point, Virginia. Six minor phenotypes occur but have not been studied extensively. The genetic explanation of this hemoglobin polymorphism remains obscure.     

Genetic Diversity in Old Portuguese Durum Wheat Cultivars Assessed by Retrotransposon-Based Markers

Retrotransposon-based markers, such as the inter-retrotransposon-amplified polymorphism (IRAP) and the retrotransposon microsatellite-amplified polymorphism (REMAP) are highly informative, multilocus, and reveal insertional polymorphisms among plant individuals. These markers have been used for evolutionary studies, genetic diversity assessment, DNA fingerprinting, genetic mapping linkage, and for the detection of genetic rearrangements induced by polyploidization. In this study, we used IRAP and REMAP markers to assess the genetic diversity among 51 old Portuguese durum wheat cultivars belonging to 27 botanical varieties and to define their genetic relationships. Five IRAP and four REMAP primer combinations were used. IRAP markers revealed 66.3% of polymorphism and an average of 18.4 bands per primer combination which ranged in size from 450 to 3,100?bp. The REMAP technique allowed the detection of 86.36% of inter-cultivar polymorphism and an average of 11 bands per primer combination. The molecular weight of the REMAP bands ranged from 250 to 2,750?bp. The durum wheat cultivars analyzed here belong to 27 botanical varieties of the subspecies Triticum turgidum subsp. turgidum L. [syn. T. turgidum] and Triticum turgidum L. subsp. durum [syn. T. durum] (Desf.) Husn.. Our results showed that the genetic variability assessed by both the IRAP and REMAP markers did not allow the clustering of the durum wheat cultivars according to their taxonomical criteria (subspecies or botanical variety) or homonymy. Nonetheless, these markers were useful for the assessment of genetic diversity at the individual level, for the definition of genetic relationships among cultivars, and for estimation of the genetic structure of the Old collection under analysis. The achieved data could be valuable for future experiments of DNA fingerprinting, genetic improvement, and germplasm conservation in wheat.     

Hybridization in Capparis spinosa L.: Molecular and morphological evidence from a Mediterranean island complex

Inter-Simple Sequence Repeat (ISSR) molecular markers and morphological analysis were used in order to characterize wild populations and cultivated forms of orphan crop species Capparis spinosa L. in a Mediterranean island complex. Nineteen wild populations belonging to two different subspecies, C. spinosa subsp. spinosa and subsp. rupestris, were sampled in different environments in Sicily and the surrounding islets Lampedusa, Pantelleria and Salina. Different biotypes cultivated in Pantelleria and Salina were analysed. Six ISSR primers were selected for genetic characterization, and all clear and reproducible bands were scored and analysed. Among the 47 ISSR bands obtained, 97.5% were polymorphic. Results of AMOVA and STRUCTURE analysis suggested a clear genetic distinctness between subspecies at the regional level and suggested the existence of two taxonomic groups among wild populations, with different ecological preferences and distinctive morphological characters. Cultivated forms showed genetic affinity to subsp. rupestris. ISSR analysis not only provided specific molecular markers to discriminate the taxa, but also proved useful in supporting the hypothesis of a hybrid origin of the intermediate phenotypes found in overlapping distribution areas. The identified molecular markers provided a basic tool for the DNA fingerprinting of wild and commercial capers in the Mediterranean region and nearby territory.     

Genomic Evidence of Rapid and Stable Adaptive Oscillations over Seasonal Time Scales in Drosophila

In many species, genomic data have revealed pervasive adaptive evolution indicated by the fixation of beneficial alleles. However, when selection pressures are highly variable along a species'' range or through time adaptive alleles may persist at intermediate frequencies for long periods. So called “balanced polymorphisms” have long been understood to be an important component of standing genetic variation, yet direct evidence of the strength of balancing selection and the stability and prevalence of balanced polymorphisms has remained elusive. We hypothesized that environmental fluctuations among seasons in a North American orchard would impose temporally variable selection on Drosophila melanogaster that would drive repeatable adaptive oscillations at balanced polymorphisms. We identified hundreds of polymorphisms whose frequency oscillates among seasons and argue that these loci are subject to strong, temporally variable selection. We show that these polymorphisms respond to acute and persistent changes in climate and are associated in predictable ways with seasonally variable phenotypes. In addition, our results suggest that adaptively oscillating polymorphisms are likely millions of years old, with some possibly predating the divergence between D. melanogaster and D. simulans. Taken together, our results are consistent with a model of balancing selection wherein rapid temporal fluctuations in climate over generational time promotes adaptive genetic diversity at loci underlying polygenic variation in fitness related phenotypes.     

Musa Genetic Diversity Revealed by SRAP and AFLP

The sequence-related amplified polymorphism (SRAP) technique, aimed for the amplification of open reading frames (ORFs), vis-â-vis that of the amplified fragment length polymorphisms (AFLP) were used to analyze the genetic variation and relationships among forty Musa accessions; which include commercial cultivars and wild species of interest for the genetic enhancement of Musa. A total of 403 SRAP and 837 AFLP amplicons were generated by 10 SRAP and 15 AFLP primer combinations, of which 353 and 787 bands were polymorphic, respectively. Both cluster analysis of unweighted pair-grouping method with arithmetic averages (UPGMA) and principal coordinate (PCO) analysis separated the forty accessions into their recognized sections (Eumusa, Australimusa, Callimusa and Rhodochlamys) and species. The percentage of polymorphism amongst sections and species and the relationships within Eumusa species and subspecies varied between the two marker systems. In addition to its practical simplicity, SRAP exhibited approximately threefold more specific and unique bands than AFLP, 37 and 13%, respectively. SRAP markers are demonstrated here to be proficient tools for discriminating amongst M. acuminata, M. balbisiana and M. schizocarpa in the Eumusa section, as well as between plantains and cooking bananas within triploid cultivars.     

Genetic analysis of an endemic archipelagic lizard reveals sympatric cryptic lineages and taxonomic discordance

The importance of genetic data in biodiversity conservation is well established, and knowledge of standing genetic variation within and between populations is important for designing conservation strategies. We investigated partitioning of genetic diversity in an endemic lizard (Leiocephalus psammodromus) distributed in the Turks and Caicos archipelago using mtDNA and AFLP data from 259 individuals sampled across 13 islands. Current taxonomy identifies six or more subspecies of L. psammodromus within the archipelago, several of which have undergone recent drastic reductions in range due to extirpation. However, our results indicate the presence of two independent lineages, one on each of the Turks and Caicos banks, and a third sympatric cryptic lineage on both banks. These lineages do not correspond to current taxonomy and alter our understanding of diversity and conservation of this species. Gross morphological data (mass and snout-vent length) indicate some variation in female size among lineages, indicating the possibility of cryptic morphological variation. Instead of initiating separate conservation measures for nominate subspecies, we recommend a more thorough investigation of the morphology and genetics of this group and a more inclusive conservation program. Our surprising results indicate that other endemic squamates in the Bahamas Archipelago might also exhibit sympatric cryptic diversity that does not correspond to current taxonomic understanding and could have significant impacts on our approach to conservation in this region.     

A family study of the hemoglobin polymorphism in Macaca fascicularis

Phenotypes for the major hemoglobin polymorphism resulting from the α-locus components Hb-A^mi, Hb-Q^mi and Hb-P^mi were determined for a sample of Macaca fascicularis. Family data employed to confirm the mode of inheritance of six phenotypes support the genetic hypothesis of three codominant alleles: (1) Hb-A^mi, (2) Hb-P^mi and (3) Hb-AQ^mi, and α-locus duplication of Hb-A^mi. The hypothesis that malaria imposes differential selective pressure upon the resulting phenotypes is discussed.     

Adaptive basis of geographic variation: genetic,phenotypic and environmental differences among beach mouse populations

A major goal in evolutionary biology is to understand how and why populations differentiate, both genetically and phenotypically, as they invade a novel habitat. A classical example of adaptation is the pale colour of beach mice, relative to their dark mainland ancestors, which colonized the isolated sandy dunes and barrier islands on Florida''s Gulf Coast. However, much less is known about differentiation among the Gulf Coast beach mice, which comprise five subspecies linearly arrayed on Florida''s shoreline. Here, we test the role of selection in maintaining variation among these beach mouse subspecies at multiple levels—phenotype, genotype and the environments they inhabit. While all beach subspecies have light pelage, they differ significantly in colour pattern. These subspecies are also genetically distinct: pair-wise F_st-values range from 0.23 to 0.63 and levels of gene flow are low. However, we did not find a correlation between phenotypic and genetic distance. Instead, we find a significant association between the average ‘lightness’ of each subspecies and the brightness of the substrate it inhabits: the two most genetically divergent subspecies occupy the most similar habitats and have converged on phenotype, whereas the most genetically similar subspecies occupy the most different environments and have divergent phenotypes. Moreover, allelic variation at the pigmentation gene, Mc1r, is statistically correlated with these colour differences but not with variation at other genetic loci. Together, these results suggest that natural selection for camouflage—via changes in Mc1r allele frequency—contributes to pigment differentiation among beach mouse subspecies.     

Fuzzy Boundaries: Color and Gene Flow Patterns among Parapatric Lineages of the Western Shovel-Nosed Snake and Taxonomic Implication

Accurate delineation of lineage diversity is increasingly important, as species distributions are becoming more reduced and threatened. During the last century, the subspecies category was often used to denote phenotypic variation within a species range and to provide a framework for understanding lineage differentiation, often considered incipient speciation. While this category has largely fallen into disuse, previously recognized subspecies often serve as important units for conservation policy and management when other information is lacking. In this study, we evaluated phenotypic subspecies hypotheses within shovel-nosed snakes on the basis of genetic data and considered how evolutionary processes such as gene flow influenced possible incongruence between phenotypic and genetic patterns. We used both traditional phylogenetic and Bayesian clustering analyses to infer range-wide genetic structure and spatially explicit analyses to detect possible boundary locations of lineage contact. Multilocus analyses supported three historically isolated groups with low to moderate levels of contemporary gene exchange. Genetic data did not support phenotypic subspecies as exclusive groups, and we detected patterns of discordance in areas where three subspecies are presumed to be in contact. Based on genetic and phenotypic evidence, we suggested that species-level diversity is underestimated in this group and we proposed that two species be recognized, Chionactis occipitalis and C. annulata. In addition, we recommend retention of two subspecific designations within C. annulata (C. a. annulata and C. a. klauberi) that reflect regional shifts in both genetic and phenotypic variation within the species. Our results highlight the difficultly in validating taxonomic boundaries within lineages that are evolving under a time-dependent, continuous process.     

Phylogenomic Analysis Identifies Gene Gains That Define Salmonella enterica Subspecies I

Comparative methods for analyzing whole genome sequence (WGS) data enable us to assess the genetic information available for reconstructing the evolutionary history of pathogens. We used the comparative approach to determine diagnostic genes for Salmonella enterica subspecies I. S. enterica subsp. I strains are known to infect warm-blooded organisms regularly while its close relatives tend to infect only cold-blooded organisms. We found 71 genes gained by the common ancestor of Salmonella enterica subspecies I and not subsequently lost by any member of this subspecies sequenced to date. These genes included many putative functional phenotypes. Twenty-seven of these genes are found only in Salmonella enterica subspecies I; we designed primers to test these genes for use as diagnostic sequence targets and data mined the NCBI Sequence Read Archive (SRA) database for draft genomes which carried these genes. We found that the sequence specificity and variability of these amplicons can be used to detect and discriminate among 317 different serovars and strains of Salmonella enterica subspecies I.     

Pleistocene distribution range shifts were accompanied by breeding system divergence within Hornungia alpina (Brassicaceae) in the Alps

Impact of glacial history on the phylogeography of silicate-dwelling plants of the European Alps has been particularly well studied, whereas virtually no data are available for species growing on different bedrock types, as for Hornungia alpina. Bayesian clustering of AFLP data only partly support the distinction of three subspecies as morphologically defined. Whereas the phylogeographical N-group corresponds to subsp. alpina, the congruence of the SW-group and SE-group with subsp. brevicaulis, and subsp. austroalpina, respectively, is limited. High levels of rarity and genetic diversity in the N-group suggest Pleistocene survival along the outer margin of the Alpine arc. For subsp. brevicaulis we suggest a single origin from a refugium in the Southwestern Alps, whereas subsp. austroalpina might have originated twice in the Southern and Southeastern Alps. Different levels of genetic diversity and partitioning of genetic variation indicate a divergence in breeding system, which is corroborated by pollinator exclusion experiments revealing self-incompatibility in the N-group and autonomous selfing in the SE-group.     

Speciation and Species Separation in Hordeum L. (Poaceae) Resolved by Discontinuous Molecular Markers1

Abstract: Amplified fragment length polymorphisms (AFLPs) were used to evaluate the capacity of discontinuous markers to reveal genetic structure within Hordeum , a challenging higher plant genus from the standpoint of natural systematics. Phylogenies of 63 accessions encompassing nine species from four Hordeum sections were inferred from polymorphisms scored at 600 loci. Phylogenies based on sequences from the nuclear internal transcribed spacer (ITS) region were constructed for comparison, but revealed severe sampling errors inherent to single genes. Although superior by virtue of providing genome-wide estimates of genetic similarity, the adoption of AFLPs in infrageneric studies requires caution. Comigrating AFLP bands studied here could be divided on the basis of band intensity variation into two types that are □ 100 % identical and < 40 % identical in DNA sequence, respectively, in infrageneric comparisons. Thus, the careful selection of AFLP bands to be analyzed bears heavily upon their phylogenetic utility. Within the H. murinum complex, which encompasses three morphologically distinct subspecies, AFLP data from 37 accessions reveal unexpected genetic differentiation between H. murinum, glaucum populations to the east and west of Alexandria (Egypt), suggesting the presence of allopatric speciation in the wake of human settlement.     

Genetic variation detected with RAPD markers among upland and lowland rice cultivars (Oryza sativa L.)

Genetic variation of nine upland and four lowland rice cultivars (Oryza sativa L.) was investigated at the DNA level using the randomly amplified polymorphic DNA (RAPD) method via the polymerase chain reaction (PCR). Forty-two random primers were used to amplify DNA segments and 260 PCR products were obtained. The results of agarosegel electrophoretic analysis of these PCR products indicated that 208 (80%) were polymorphic. All 42 primers used in this experiment were amplified and typically generated one-to-four major bands. Only two primers showed no polymorphisms. In general, a higher level of polymorphism was found between japonica and indica subspecies while fewer polymorphisms were found between upland and lowland cultivars within the indica subspecies. A dendrogram that shows the genetic distances of 13 rice cultivars was constructed based on their DNA polymorphisms. Classification of rice cultivars based on the results from the RAPD analysis was identical to the previous classification based on isozyme analysis. This study demonstrated that RAPD analysis is a useful tool in determining the genetic relationships among rice cultivars.     

High Genetic Differentiation of Hippophae rhamnoides ssp. yunnanensis (Elaeagnaceae), a Plant Endemic to the Qinghai-Tibet Plateau

RAPD markers were used to detect genetic diversity and population genetic differentiation of Hippophae rhamnoides ssp. yunnanensis, a sea buckthorn endemic to the Qinghai-Tibet plateau. The genetic parameters of percentage of polymorphic bands (92.86%), Nei’s gene diversity (h, 0.255), and Shannon’s index (I, 0.397) indicated high genetic diversity in this subspecies. The subpopulation differentiation suggested that 45.9% of genetic variation was among populations. High genetic differentiation among populations was also detected using AMOVA (47.02%). The main factors responsible for high genetic differentiation are probably related to natural geographic barriers among populations, gene drift, and limited gene flow caused by restricted pollen flow and seed flow. A Mantel test indicated that geographic distances were significantly correlated with genetic distances. The UPGMA phenogram based on Nei’s unbiased genetic distances and the result of three-dimensional model plots performed by principal coordinate analysis also supported the correlation. Altitude, however, did not have any clear effect on genetic differentiation.     

Genotype-based databases for variants causing rare diseases

Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which may be predicted by the genotype. Additional effects may be triggered by environmental factors, as well as genetic modifiers which could be nucleotide polymorphisms in related genes, e.g. maternal ApoE or ABCA1 genotypes which may have an influence on the phenotype of SLOS individuals. Here we report the establishment of genotype variation databases for various rare diseases which provide individual clinical phenotypes associated with genotypes and include data about possible genetic modifiers. These databases aim to be an easy public access to information on rare and private variants with clinical data, which will facilitate the interpretation of genetic variants.     

Mitochondrial and Nuclear DNA Based Genetic Assessment Indicated Distinct Variation and Low Genetic Exchange Among the Three Subspecies of Swamp Deer (<Emphasis Type="Italic">Rucervus</Emphasis> <Emphasis Type="Italic">duvaucelii</Emphasis>)

The swamp deer (Rucervus duvaucelii) occurs, primarily, in the wet grasslands of the Himalayan foothills as well as the dry grasslands of central India. Three subspecies have been identified, namely R. duvaucelii duvaucelii, R. duvaucelii branderi and R. duvaucelii ranjitsinhi. Degradation of grassland habitats led to a drastic decline in the total swamp deer population in the early 19th century. Even though the species has recently shown signs of recovery, it is still vulnerable to the small-population paradigm. Effective management plans need to be put in place to increase the population through scientific intervention. The current genetic variation within the three subspecies of R. duvaucelii is unclear, and this is hindering effective conservation planning. We examined the genetic variability, population structure and demography of the three subspecies of swamp deer using the mtDNA control region and microsatellite analysis. Despite the spatial isolation of the populations, we found a high level of variation and weak divergence among the subspecies. The genetic differentiation (F _ST ) between the subspecies and the mismatch distribution of haplotypes indicated recent colonization by these subspecies. Population bottleneck analysis indicated that the existing subspecies and their populations are at demographic equilibrium and are stable. The study highlights the need for effective conservation management intervention to maintain the population size and genetic diversity. It also indicates that all the subspecies need to be managed as separate conservation units.     

Color vision and niche partitioning in a diverse neotropical primate community in lowland Amazonian Ecuador

A recent focus in community ecology has been on how within‐species variability shapes interspecific niche partitioning. Primate color vision offers a rich system in which to explore this issue. Most neotropical primates exhibit intraspecific variation in color vision due to allelic variation at the middle‐to‐long‐wavelength opsin gene on the X chromosome. Studies of opsin polymorphisms have typically sampled primates from different sites, limiting the ability to relate this genetic diversity to niche partitioning. We surveyed genetic variation in color vision of five primate species, belonging to all three families of the primate infraorder Platyrrhini, found in the Yasuní Biosphere Reserve in Ecuador. The frugivorous spider monkeys and woolly monkeys (Ateles belzebuth and Lagothrix lagotricha poeppigii, family Atelidae) each had two opsin alleles, and more than 75% of individuals carried the longest‐wavelength (553–556 nm) allele. Among the other species, Saimiri sciureus macrodon (family Cebidae) and Pithecia aequatorialis (family Pitheciidae) had three alleles, while Plecturocebus discolor (family Pitheciidae) had four alleles—the largest number yet identified in a wild population of titi monkeys. For all three non‐atelid species, the middle‐wavelength (545 nm) allele was the most common. Overall, we identified genetic evidence of fourteen different visual phenotypes—seven types of dichromats and seven trichromats—among the five sympatric taxa. The differences we found suggest that interspecific competition among primates may influence intraspecific frequencies of opsin alleles. The diversity we describe invites detailed study of foraging behavior of different vision phenotypes to learn how they may contribute to niche partitioning.