Loss of Sexual Reproduction and Dwarfing in a Small Metazoan

Asexuality has major theoretical advantages over sexual reproduction, yet newly formed asexual lineages rarely endure. The success, or failure, of such lineages is affected by their mechanism of origin, because it determines their initial genetic makeup and variability. Most previously described mechanisms imply that asexual lineages are randomly frozen subsamples of a sexual population.We found that transitions to obligate parthenogenesis (OP) in the rotifer Brachionus calyciflorus, a small freshwater invertebrate which normally reproduces by cyclical parthenogenesis, were controlled by a simple Mendelian inheritance. Pedigree analysis suggested that obligate parthenogens were homozygous for a recessive allele, which caused inability to respond to the chemical signals that normally induce sexual reproduction in this species. Alternative mechanisms, such as ploidy changes, could be ruled out on the basis of flow cytometric measurements and genetic marker analysis. Interestingly, obligate parthenogens were also dwarfs (approximately 50% smaller than cyclical parthenogens), indicating pleiotropy or linkage with genes that strongly affect body size. We found no adverse effects of OP on survival or fecundity.This mechanism of inheritance implies that genes causing OP may evolve within sexual populations and remain undetected in the heterozygous state long before they get frequent enough to actually cause a transition to asexual reproduction. In this process, genetic variation at other loci might become linked to OP genes, leading to non-random associations between asexuality and other phenotypic traits

Genetic, environmental and stochastic factors in monozygotic twin discordance with a focus on epigenetic differences

PMCID: PMC3566971This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Future therapeutic targets in rheumatoid arthritis?

Rheumatoid arthritis (RA) is a chronic inflammatory disease characterized by persistent joint inflammation. Without adequate treatment, patients with RA will develop joint deformity and progressive functional impairment. With the implementation of treat-to-target strategies and availability of biologic therapies, the outcomes for patients with RA have significantly improved. However, the unmet need in the treatment of RA remains high as some patients do not respond sufficiently to the currently available agents, remission is not always achieved and refractory disease is not uncommon. With better understanding of the pathophysiology of RA, new therapeutic approaches are emerging. Apart from more selective Janus kinase inhibition, there is a great interest in the granulocyte macrophage-colony stimulating factor pathway, Bruton's tyrosine kinase pathway, phosphoinositide-3-kinase pathway, neural stimulation and dendritic cell-based therapeutics. In this review, we will discuss the therapeutic potential of these novel approaches

The First New Zealanders? An Alternative Interpretation of Stable Isotope Data from Wairau Bar, New Zealand.

PLOS ONE Volume 8 includes an article “The First New Zealanders: Patterns of Diet and Mobility Revealed through Isotope Analysis”. The paper proposes that burial groups within the settlement phase site of Wairau Bar differ in terms of dietary stable isotopes and 87Sr/86Sr. The authors argue this difference is probably due to one group being a founding population while the other burials are later. Here we review the work of Kinaston et al. and present an alternative analysis and interpretation of the isotopic data. Treating the isotope data independently from cultural and biological factors we find that sex best explains dietary variation. Our reassessment of 87Sr/86Sr confirms the authors original finding of high mobility of early New Zealanders but suggests a larger range of individuals should be considered ‘non-local’ on current evidence

Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer

Background: Differentially methylated regions (DMRs) are associated with many imprinted genes. In mice methylation at a DMR upstream of the H19 gene known as the Imprint Control region (IC1) is acquired in the male germline and influences the methylation status of DMRs 100 kb away in the adjacent Insulin-like growth factor 2 (Igf2) gene through long-range interactions. In humans, germline-derived or post-zygotically acquired imprinting defects at IC1 are associated with aberrant activation or repression of IGF2, resulting in the congenital growth disorders Beckwith-Wiedemann (BWS) and Silver-Russell (SRS) syndromes, respectively. In Wilms tumour and colorectal cancer, biallelic expression of IGF2 has been observed in association with loss of methylation at a DMR in IGF2. This DMR, known as DMR0, has been shown to be methylated on the silent maternal IGF2 allele presumably with a role in repression. The effect of IGF2 DMR0 methylation changes in the aetiology of BWS or SRS is unknown. Methodology/Principal Findings: We analysed the methylation status of the DMR0 in BWS, SRS and Wilms tumour patients by conventional bisulphite sequencing and pyrosequencing. We show here that, contrary to previous reports, the IGF2 DMR0 is actually methylated on the active paternal allele in peripheral blood and kidney. This is similar to the IC

Associations of body mass index and waist circumference with: energy intake and percentage energy from macronutrients, in a cohort of australian children

Background: It is evident from previous research that the role of dietary composition in relation to the development of childhood obesity remains inconclusive. Several studies investigating the relationship between body mass index (BMI), waist circumference (WC) and/or skin fold measurements with energy intake have suggested that the macronutrient composition of the diet (protein, carbohydrate, fat) may play an important contributing role to obesity in childhood as it does in adults. This study investigated the possible relationship between BMI and WC with energy intake and percentage energy intake from macronutrients in Australian children and adolescents

Scenario-based requirements elicitation for user-centric explainable AI

Explainable Artificial Intelligence (XAI) develops technical explanation methods and enable interpretability for human stakeholders on why Artificial Intelligence (AI) and machine learning (ML) models provide certain predictions. However, the trust of those stakeholders into AI models and explanations is still an issue, especially domain experts, who are knowledgeable about their domain but not AI inner workings. Social and user-centric XAI research states it is essential to understand the stakeholder’s requirements to provide explanations tailored to their needs, and enhance their trust in working with AI models. Scenario-based design and requirements elicitation can help bridge the gap between social and operational aspects of a stakeholder early before the adoption of information systems and identify its real problem and practices generating user requirements. Nevertheless, it is still rarely explored the adoption of scenarios in XAI, especially in the domain of fraud detection to supporting experts who are about to work with AI models. We demonstrate the usage of scenario-based requirements elicitation for XAI in a fraud detection context, and develop scenarios derived with experts in banking fraud. We discuss how those scenarios can be adopted to identify user or expert requirements for appropriate explanations in his daily operations and to make decisions on reviewing fraudulent cases in banking. The generalizability of the scenarios for further adoption is validated through a systematic literature review in domains of XAI and visual analytics for fraud detection

Cranial Growth and Variation in Edmontosaurs (Dinosauria: Hadrosauridae): Implications for Latest Cretaceous Megaherbivore Diversity in North America

The well-sampled Late Cretaceous fossil record of North America remains the only high-resolution dataset for evaluating patterns of dinosaur diversity leading up to the terminal Cretaceous extinction event. Hadrosaurine hadrosaurids (Dinosauria: Ornithopoda) closely related to Edmontosaurus are among the most common megaherbivores in latest Campanian and Maastrichtian deposits of western North America. However, interpretations of edmontosaur species richness and biostratigraphy have been in constant flux for almost three decades, although the clade is generally thought to have undergone a radiation in the late Maastrichtian. We address the issue of edmontosaur diversity for the first time using rigorous morphometric analyses of virtually all known complete edmontosaur skulls. Results suggest only two valid species, Edmontosaurus regalis from the late Campanian, and E. annectens from the late Maastrichtian, with previously named taxa, including the controversial Anatotitan copei, erected on hypothesized transitional morphologies associated with ontogenetic size increase and allometric growth. A revision of North American hadrosaurid taxa suggests a decrease in both hadrosaurid diversity and disparity from the early to late Maastrichtian, a pattern likely also present in ceratopsid dinosaurs. A decline in the disparity of dominant megaherbivores in the latest Maastrichtian interval supports the hypothesis that dinosaur diversity decreased immediately preceding the end Cretaceous extinction event

Classical Morphology of Plants as an Elementary Instance of Classical Invariant Theory

It has long been known that structural chemistry shows an intriguing correspondence with Classical Invariant Theory (CIT). Under this view, an algebraic binary form of the degree n corresponds to a chemical atom with valence n and each physical molecule or ion has an invariant-theoretic counterpart. This theory was developed using the Aronhold symbolical approach and the symbolical processes of convolution/transvection in CIT was characterized as a potential “accurate morphological method”. However, CIT has not been applied to the formal morphology of living organisms. Based on the morphological interpretation of binary form, as well as the process of convolution/transvection, the First and Second Fundamental Theorems of CIT and the Nullforms of CIT, we show how CIT can be applied to the structure of plants, especially when conceptualized as a series of plant metamers (phytomers). We also show that the weight of the covariant/invariant that describes a morphological structure is a criterion of simplicity and, therefore, we argue that this allows us to formulate a parsimonious method of formal morphology. We demonstrate that the “theory of axilar bud” is the simplest treatment of the grass seedling/embryo. Our interpretations also represent Troll's bauplan of the angiosperms, the principle of variable proportions, morphological misfits, the basic types of stem segmentation, and Goethe's principle of metamorphosis in terms of CIT. Binary forms of different degrees might describe any repeated module of plant organisms. As bacteria, invertebrates, and higher vertebrates are all generally shared a metameric morphology, wider implications of the proposed symmetry between CIT and formal morphology of plants are apparent