Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression

Background  

The ABCC5 gene encodes an organic anion pump of the ATP-binding cassette (ABC) transporter family, subclass C. The exact physiological function of ABCC5 however is not known. Here, we have isolated three novel ABCC5 splice variants and characterized their role in the regulation of ABCC5 gene expression.     

Relationships of water temperature and aquatic macroinvertebrate community structure with non-native riparian plant densities in the southern Cape,South Africa

Non-native vegetation in the riparian zone impacts on water temperatures, flow patterns, degree of shading, channel modification, and changes to natural sediment loads. Freshwater ecosystems in the Garden Route Initiative planning domain are of particular conservation value, because of the rich Gondwanaland relict aquatic macroinvertebrate fauna found in the rivers there, which are vulnerable to thermal changes. Data were collected during 2013 and 2014 at 19 sites on seven river systems between George and Knysna in the southern Cape, South Africa. These included 12 months of hourly water temperatures at all sites, and quantitative sampling of aquatic macroinvertebrates at ten sites. Each site was characterised in terms of water quality (pH, conductivity and turbidity) and general characteristics, including impacts such as density of non-native riparian trees. At the family level, aquatic macroinvertebrate communities showed variation between sites and seasons. Differences were more pronounced on the basis of natural land cover type (fynbos versus indigenous forest) than densities of non-native invasive riparian vegetation. Conservation of these river systems will depend on maintaining a mosaic of natural vegetation types.     

Sex differences in hepatic one-carbon metabolism

Background

There are large differences between men and women of child-bearing age in the expression level of 5 key enzymes in one-carbon metabolism almost certainly caused by the sex hormones. These male-female differences in one-carbon metabolism are greatly accentuated during pregnancy. Thus, understanding the origin and consequences of sex differences in one-carbon metabolism is important for precision medicine.

Results

We have created a mathematical model of hepatic one-carbon metabolism based on the underlying physiology and biochemistry. We use the model to investigate the consequences of sex differences in gene expression. We give a mechanistic understanding of observed concentration differences in one-carbon metabolism and explain why women have lower S-andenosylmethionine, lower homocysteine, and higher choline and betaine. We give a new explanation of the well known phenomenon that folate supplementation lowers homocysteine and we show how to use the model to investigate the effects of vitamin deficiencies, gene polymorphisms, and nutrient input changes.

Conclusions

Our model of hepatic one-carbon metabolism is a useful platform for investigating the mechanistic reasons that underlie known associations between metabolites. In particular, we explain how gene expression differences lead to metabolic differences between males and females.

     

Ultrastructural changes accompanying secretion and cell death in the molting glands of an insect (Oncopeltus)

During the fifth (last) larval instar of Oncopeltus fasciatus, morphological changes in the molting glands associated with ecdysone secretion include an increase in cytoplasmic volume relative to that of the nucleus, increased amounts of rough endoplasmic reticulum and mitochondria, and the formation of deep infoldings of the plasma membrane. On the sixth day of the fifth instar large electron-lucent areas become apparent beneath the basement membrane; however, the glands remain intact until the seventh (last) day of the instar when a dramatic fragmentation of the cytoplasm, and condensation and fragmentation of the nucleus are observed. It is likely that such changes occur rapidly, just prior to the time of ecdysis to an adult. Cell death in the molting glands of Oncopeltus is markedly different from that described for the molting glands of other insect species in that autophagic vacuoles are not observed prior to a complete loss of cellular integrity.     

GENETICS OF FLUCTUATING ASYMMETRY: A DEVELOPMENTAL MODEL OF DEVELOPMENTAL INSTABILITY

Although numerous studies have found that fluctuating asymmetry (FA) can have a heritable component, the genetic and developmental basis of FA is poorly understood. We used a developmental model of a trait, according to a diffusion-threshold process, whose parameters are under genetic control. We added a small amount of random variation to the parameter values of this model to simulate developmental noise. As a result of the nonlinearity of the model, different genotypes differed in their sensitivity to developmental noise, even though the noise is completely random and independent of the genotype. The heritable component of FA can thus be understood as genetically modulated expression of variation that is itself entirely nongenetic. The loci responsible for this genetic variation of FA are the same that affect the left/right mean of the trait, showing that genetic variation for FA does not require genes that specifically control FA. Furthermore, the model offers alternative explanations for phenomena widely discussed in the literature on FA, for instance, the correlations between FA and heterozygosity and between FA and trait size. The model underscores the importance of dominance and epistasis, and therefore unites the study of FA with the classical theory of quantitative genetics.     

Developmental mechanisms of threshold evolution in a polyphenic beetle

Polyphenic development is thought to play a pivotal role in the origin of morphological novelties. However, little is known about how polyphenisms evolve in natural populations, the developmental mechanisms that may mediate such evolution, and the consequences of such modification for patterns of morphological variation. Here we examine the developmental mechanisms of polyphenism evolution in highly divergent natural populations of the dung beetle, Onthophagus taurus. Males of this species express two alternative morphologies in response to larval feeding conditions. Favorable conditions cause males to grow larger than a threshold body size and to develop a pair of horns on their heads. Males that encounter relatively poor conditions during larval life do not reach this threshold size and remain hornless. Exotic populations of O. taurus have diverged dramatically in body size thresholds in less than 40 years since introduction to new habitats, resulting in the expression of highly divergent and novel horn length-body size scaling relationships in these populations. Here we show that larvae of populations that have evolved a larger threshold body size (1) have to accumulate greater mass to become competent to express the horned morph, (2) require more time to complete the final instar, (3) are less sensitive to the juvenile hormone (JH) analogue methoprene, and (4) exhibit a delay in the sensitive period for methoprene relative to other developmental events. JH has been shown previously to control horn expression in this species. Our results show that threshold evolution may be mediated via changes in the degree and timing of sensitivity to JH and may result in correlated changes in the dynamics and duration of larval development. Strain-specific differences in JH sensitivity have previously been demonstrated in other insects. However, to the best of our knowledge this is the first demonstration that changes in the timing of the sensitive period for JH may play an equally important role in the evolution of novel thresholds. We discuss our findings in the context of the developmental regulatory mechanisms that underlie polyphenic development and use our results to explore the consequences of, and constraints on, polyphenism evolution in nature.