Which factors contribute most to genome size variation within angiosperms?

Genome size varies greatly across the flowering plants and has played an important role in shaping their evolution. It has been reported that many factors correlate with the variation in genome size, but few studies have systematically explored this at the genomic level. Here, we scan genomic information for 74 species from 74 families in 38 orders covering the major groups of angiosperms (the taxonomic information was acquired from the latest Angiosperm Phylogeny Group (APG IV) system) to evaluate the correlation between genome size variation and different genome characteristics: polyploidization, different types of repeat sequence content, and the dynamics of long terminal repeat retrotransposons (LTRs). Surprisingly, we found that polyploidization shows no significant correlation with genome size, while LTR content demonstrates a significantly positive correlation. This may be due to genome instability after polyploidization, and since LTRs occupy most of the genome content, it may directly result in most of the genome variation. We found that the LTR insertion time is significantly negatively correlated with genome size, which may reflect the competition between insertion and deletion of LTRs in each genome, and that the old insertions are usually easy to recognize and eliminate. We also noticed that most of the LTR burst occurred within the last 3 million years, a timeframe consistent with the violent climate fluctuations in the Pleistocene. Our findings enhance our understanding of genome size evolution within angiosperms, and our methods offer immediate implications for corresponding research in other datasets.     

Does inbreeding promote evolutionary reduction of flower size? Experimental evidence from Crepis tectorum (Asteraceae)

? Premise of the study: Small, autogamous flowers have evolved repeatedly in the plant kingdom. While much attention has focused on the mechanisms that promote the shift to autogamy, there is still a paucity of information on the factors that underlie the reduction of flower size so prevalent in selfing lineages. In this study of Crepis tectorum, I examine the role of inbreeding, acting alone or together with selection, in promoting evolutionary reduction of flower size. ? Methods: Experimental crosses were performed to produce progeny populations that differed in inbreeding and (or) selection history. Progenies were grown in two different environments and scored for flower size and other characters. ? Key results: Inbreeding depressed flower and fruit size, but also caused changes in flowering time and the number of heads produced. Despite some inconsistencies in the results for the last progeny generation, the decline in flower size was persistent over generations, consistent across environments, and similar in magnitude to the effects of selection for small flower size and the floral reduction inferred to have taken place during the shift toward autogamy within the study species. The floral size reduction was largely independent of changes in overall vigor, and there was considerable adaptive potential in flower size (measured by sib analyses and parent-offspring comparisons) after inbreeding. ? Conclusions: The results of this study indicate that inbreeding can promote evolutionary reduction of flower size and highlight the close, persistent association between flower and fruit size in the study species.     

Does genome size in Dasypyrum villosum vary with fruit colour?

Dasypyrum villosum (2n=14), a Mediterranean grass species of the Triticeae, exhibits intraindividual fruit colour polymorphism from pale yellow to almost black. Several studies have reported differences between the plants emerging from pale and dark fruits. They include histone content in root meristem nuclei, cell cycle duration, heterochromatin banding pattern, frequency of a tandemly repeated sequence, and nuclear genome size. In the present study, we examine whether the reports of genome size being up to 1.24-fold larger in seedlings from the lighter caryopses are reproducible. In all, 29 accessions from various countries, totaling 186 plants, were investigated for genome size using flow cytometry with propidium iodide as the DNA stain. Individuals differed 1.12-fold at most and accessions 1.07-fold. The mean genome size (1C-value) was 5.07 pg or 4954 Mbp. Within-accession comparisons of seedlings derived from light and dark caryopses were insignificant (P>0.100). Thus, we found no evidence for a modificatory genome size plasticity in D. villosum. In the light of our data, the previously reported genome size variation, up to 1.66-fold within populations and 1.67-fold between populations, appears unrealistically high. Suboptimal technical procedures for quantitative Feulgen staining are probably responsible for these earlier observations.     

Flow cytometry and cytogenetic tools in eucalypts: genome size variation × karyotype stability

The eucalypts comprise a group of woody plants used in commercial forest plantations owing to their high growth rates, adaptability to various ecological conditions and multiple applications. Despite the enormous amount of molecular data available for eucalypts, a basic understanding of the nature of its genome still requires information regarding the DNA amount in the genus. In this work, we estimated the genome size and base composition of 25 eucalypt species. With a comparative karyotype approach, we aimed to identify possible chromosomal alterations correlated with the genome size variation. Classical cytogenetic and genomic in situ hybridization experiments were conducted for this purpose. The studied species showed genome size ranging from 2C = 0.91 (Corymbia intermedia) to 2C = 1.37 pg (Eucalyptus paniculata) and AT/CG ratios varying from AT = 61.3 (Eucalyptus urophylla) to AT = 62.85% (C. intermedia). Comparative karyotype analysis revealed no remarkable differences in chromosome number (2n = 22) or morphology among eucalypt species despite considerable differences in nuclear DNA content. The genome in situ hybridization method did not distinguish non-homologous chromosomal regions of Eucalyptus baileyana and Corymbia citriodora, despite the difference of 0.45 pg between their genome sizes. The results found in the present work corroborate the consideration of small and dispersed DNA changes as the main cause of genome size variation in eucalypts.     

Will knowledge of human genome variation result in changing cancer paradigms?

Our incomplete understanding of carcinogenesis may be a significant reason why some cancer mortality rates are still increasing. This lack of understanding is likely due to a research approach that relies heavily on genetic comparison between cancerous and non-cancerous tissues and cells, which has led to the identification of genes of cancer proliferation rather than differentiation. Recent observations showing that a tremendous degree of natural human genetic variation occurs are likely to lead to a shift in the basic paradigms of cancer genetics, in that there is a need to consider both the nature of the genes involved, and the idea that not every genetic variation identified in these genes may be associated with carcinogenesis. Based on studies using LCM and micro-genetic analyses, we propose that significant cancer initiating events may take place during the very early stages of development of cancer-susceptible tissues and that using such techniques might greatly help us in our understanding of carcinogenesis.     

Population variation in brain size of nine-spined sticklebacks (Pungitius pungitius) - local adaptation or environmentally induced variation?

Background  

Most evolutionary studies on the size of brains and different parts of the brain have relied on interspecific comparisons, and have uncovered correlations between brain architecture and various ecological, behavioural and life-history traits. Yet, similar intraspecific studies are rare, despite the fact that they could better determine how selection and phenotypic plasticity influence brain architecture. We investigated the variation in brain size and structure in wild-caught nine-spined sticklebacks (Pungitius pungitius) from eight populations, representing marine, lake, and pond habitats, and compared them to data from a previous common garden study from a smaller number of populations.     

Do phosphorus requirements for RNA limit genome size in crustacean zooplankton?

As for most other organisms, genome size in zooplankton differs widely. This may have a range of consequences for growth rate, development, and life history strategies, yet the causes of this pronounced variability are not settled. Here we propose that small genome size may be an evolutionary consequence of phosphorus (P) allocation from DNA to RNA under P deficiency. To test this hypothesis we have compared the two major groups of zooplankton, copepods and cladocerans, that have overlapping niches and body size. Relative to the cladocerans, copepods have a more complex life history and a lower mass-specific P content, while cladocerans tend to have higher P and RNA contents and higher specific growth rates and frequently experience P-limited growth, likely due to a shortage of P for ribosome synthesis. Cladocerans also generally have smaller genomes than copepods (1C = 0.17-0.63 pg DNA.cell-1 vs. 1C = 0.10-10 pg DNA.cell-1). Furthermore, cladocerans have a higher slope of the relationship of body size with DNA content (1.5 vs. 0.28 in copepods) and present almost 15-fold higher RNA:DNA ratios (24.8 in cladocerans vs. 1.6 in copepods). Hence, small genome size in cladocerans could reflect an evolutionary pressure towards "efficient" genomes to conserve a key element needed to maximize growth rate. We do not claim that this is a universal cause of genome size variability, but propose that streamlining of genomes could be related to P conservation rather than energy conservation. This could be relevant for a range of organisms that may suffer P-limited growth rates.     

Evolution of genome size in Drosophila. is the invader's genome being invaded by transposable elements?

Genome size varies considerably between species, and transposable elements (TEs) are known to play an important role in this variability. However, it is far from clear whether TEs are involved in genome size differences between populations within a given species. We show here that in Drosophila melanogaster and Drosophila simulans the size of the genome varies among populations and is correlated with the TE copy number on the chromosome arms. The TEs embedded within the heterochromatin do not seem to be involved directly in this phenomenon, although they may contribute to differences in genome size. Furthermore, genome size and TE content variations parallel the worldwide colonization of D. melanogaster species. No such relationship exists for the more recently dispersed D. simulans species, which indicates that a quantitative increase in the TEs in local populations and fly migration are sufficient to account for the increase in genome size, with no need for an adaptation hypothesis.     

Lessons from sequenced genomes. Overlapping genes in Methanococcus jannaschii?

This paper describes our finding on overlapping genes in Methanococcus jannaschii genome. We found that one of the open reading frames (ORFs) within the M. jannaschii genome contains the nucleotide sequence of tRNA(Ser), which raises a serious question of the correctness of the initiation codon assignment for that ORF. We suggest that there are two other possible AUG initiation codons downstream from the TTG triplet, which was initially considered as a translation start site. Only one of the AUG triplets is preceded by the Shine-Dalgarno sequence that seems to be required for binding the ribosome and initiation of translation.     

The evolution of genome size: what can be learned from anuran development?

Differences in nuclear DNA content in vertebrates have been shown to be correlated with cell size, cell division rate, and embryonic developmental rate. We compare seven species of anuran amphibians with a three-fold range of genome sizes. Parameters examined include the number and density of cells in a number of embryonic structures, and the change in cell number in the CNS during development. We show that genome size is correlated with cell proliferation rate and with developmental rate at different stages of embryonic development, but that the correlation between genome size and cell size is only evident at later stages. We discuss the evolution of genome size in amphibians. Our discussion takes into account data that reportedly support two conflicting hypotheses: the "skeletal DNA" hypothesis, which claims a selective role for differences in genome size, and the "junk DNA" hypothesis, which claims that differences in genome size are a random result of the accumulation of noncoding DNA sequences. We show that these supposedly conflicting hypotheses can be integrated into a more complex and inclusive model for the evolution of genome size.     

Assessing structural variation in a personal genome—towards a human reference diploid genome

Background

Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural variants (SVs), they remain less characterized than smaller variants because of SV diversity, complexity, and size. These challenges are exacerbated by the experimental and computational demands of SV analysis. Here, we characterize the SV content of a personal genome with Parliament, a publicly available consensus SV-calling infrastructure that merges multiple data types and SV detection methods.

Results

We demonstrate Parliament’s efficacy via integrated analyses of data from whole-genome array comparative genomic hybridization, short-read next-generation sequencing, long-read (Pacific BioSciences RSII), long-insert (Illumina Nextera), and whole-genome architecture (BioNano Irys) data from the personal genome of a single subject (HS1011). From this genome, Parliament identified 31,007 genomic loci between 100 bp and 1 Mbp that are inconsistent with the hg19 reference assembly. Of these loci, 9,777 are supported as putative SVs by hybrid local assembly, long-read PacBio data, or multi-source heuristics. These SVs span 59 Mbp of the reference genome (1.8%) and include 3,801 events identified only with long-read data. The HS1011 data and complete Parliament infrastructure, including a BAM-to-SV workflow, are available on the cloud-based service DNAnexus.

Conclusions

HS1011 SV analysis reveals the limits and advantages of multiple sequencing technologies, specifically the impact of long-read SV discovery. With the full Parliament infrastructure, the HS1011 data constitute a public resource for novel SV discovery, software calibration, and personal genome structural variation analysis.

Electronic supplementary material

The online version of this article (doi:10.1186/s12864-015-1479-3) contains supplementary material, which is available to authorized users.     

Is genome size influenced by colonization of new environments in dipteran species?

Genome size differences are usually attributed to the amplification and deletion of various repeated DNA sequences, including transposable elements (TEs). Because environmental changes may promote modifications in the amount of these repeated sequences, it has been postulated that when a species colonizes new environments this could be followed by an increase in its genome size. We tested this hypothesis by estimating the genome size of geographically distinct populations of Drosophila ananassae, Drosophila malerkotliana, Drosophila melanogaster, Drosophila simulans, Drosophila subobscura, and Zaprionus indianus, all of which have known colonization capacities. There was no strong statistical differences between continents for most species. However, we found that populations of D. melanogaster from east Africa have smaller genomes than more recent populations. For species in which colonization is a recent event, the differences between genome sizes do not thus seem to be related to colonization history. These findings suggest either that genome size is seldom modified in a significant way during colonization or that it takes time for genome size of invading species to change significantly.     

Latitudinal variation in litter size of polar bears: ecology or methodology?

I used data reported in the scientific literature to examine latitudinal variation in litter size of polar bears in 18 different populations. No relationship was found between litter size and latitude using non-weighted regression. Regression weighted by sample size indicated a negative relationship with latitude. However, sampling biases caused by latitudinal differences in the timing of sampling and cub mortality after den emergence could produce a latitudinal cline. Stratifying analyses by sampling area, at dens or away from dens, revealed no latitudinal trend in litter size. Observed differences in litter size among populations may result from variation in demography and ecosystem productivity that is not simply related to latitude. I conclude that available data do not provide support for a biologically significant latitudinal cline in polar bear litter size. Accepted: 25 May 1999     

Body size variation in Audouin's Gull Larus audouinii; a density-dependent effect?

A significant decrease in the body size of Audouin's Gulls Larus audouinii breeding at the Chafarinas Islands is reported. The decrease in linear measurements in the current breeding population ranged from 2.5% to 5.6% in males and from 0.61% to 4.4% in females. This was detected when assessing the reliability of a sex-discriminating function derived for the same colony 13 years earlier. When applied to the current population, this function failed to predict the sex of a large proportion of males (44%). The relative decrease in mean size was significantly greater in males than in females for culmen, nalospi and tarsus lengths, while for bill depth at culmen, wing length and body mass the relative decrease was similar in both sexes. Since the extent of differences depended on sex, these differences cannot be attributed to a systematic between-observer bias. Mean body size reduction might be either the result of a greater proportion of small breeding birds in the current population, because of increased availability of nesting sites (competition relaxation hypothesis), or an outcome of environmental factors affecting growth parameters (environmental constraint hypothesis). According to the first hypothesis, the changes observed would be associated with higher variability values. Conversely, if the second is true, the degree of variability should be similar. Since there are no significant differences in the degree of variability shown in the two data sets, our results support the second hypothesis. The environmental constraint acting via growth parameters is probably related to the increase in the number of Audouin's Gull breeding pairs while food availability was depleted. Our data suggest that changes in the duration of the growth period, rather than in the growth rates themselves, are involved in the body size differences found.     

Can endopolyploidy explain body size variation within and between castes in ants?

Endoreduplication is the process by which the nuclear genome is repeatedly replicated without mitotic cell division, resulting in nuclei that contain numerous additional genome copies. Endoreduplication occurs widely throughout Eucarya and is particularly common in angiosperms and insects. Although endoreduplication is an important process in the terminal differentiation of some specialized cell types, and often increases cell size and metabolism, the direct effects of increasing nuclear ploidy on cell function are not well resolved. Here, we examine if endoreduplication may play a role in body size and/or caste differentiation in ants. Nuclear ploidy was measured by flow cytometry of whole individuals (providing the basis for overall body size patterns) and individual body segments for multiple polymorphic ant species. We used cell cycle values, interpreted as the mean number of endocycles performed by each cell in the sample, as our measure of overall endoreduplication. Among females of four polymorphic ant species, endoreduplication was positively related with size within the worker caste, but was not related to caste generally in two species where we also examined queens. Additionally, abdomens had the greatest endoreduplication of all body parts regardless of caste or size. We also found that males, having derived from haploid unfertilized eggs, had the highest rates of endoreduplication and may compensate for their haploid origin by performing an additional endocycle relative to females. These results suggest that endoreduplication may play a role in body size variation in eusocial insects and the development of some segment‐specific tissues.     

Population variation and individual maximum size in two leech populations: energy extraction from cannibalism or niche widening?

The theory of cannibal dynamics predicts a link between population dynamics and individual life history. In particular, increased individual growth has, in both modeling and empirical studies, been shown to result from a destabilization of population dynamics. We used data from a long-term study of the dynamics of two leech (Erpobdella octoculata) populations to test the hypothesis that maximum size should be higher in a cycling population; one of the study populations exhibited a delayed feedback cycle while the other population showed no sign of cyclicity. A hump-shaped relationship between individual mass of 1-year-old leeches and offspring density the previous year was present in both populations. As predicted from the theory, the maximum mass of individuals was much larger in the fluctuating population. In contrast to predictions, the higher growth rate was not related to energy extraction from cannibalism. Instead, the higher individual mass is suggested to be due to increased availability of resources due to a niche widening with increased individual body mass. The larger individual mass in the fluctuating population was related to a stronger correlation between the densities of 1-year-old individuals and 2-year-old individuals the following year in this population. Although cannibalism was the major mechanism regulating population dynamics, its importance was negligible in terms of providing cannibalizing individuals with energy subsequently increasing their fecundity. Instead, the study identifies a need for theoretical and empirical studies on the largely unstudied interplay between ontogenetic niche shifts and cannibalistic population dynamics.