Genetical and epidemiological studies of polydactyly in Hungary

Polydactyly is one of the most frequently observed human congenital limb malformations. Sporadic cases of polydactyly have been described, but most show an autosomal dominant pattern of inheritance. The purpose of this study was to investigate the frequency of polydactyly among children born between 1980 and 1997 in Hungary. The predominance of the postaxial type over the preaxial one was less than expected. These malformations affected significantly more boys than girls. The proportion of children with low birth weight affected by polydactyly was higher than expected. Among mothers giving life to offspring with polydactyly, the prevalence was high in the older age group. We analysed the regional distribution in Hungary and the twin frequency in connection with polydactyly. From our results comparing it to the current literature data we made conclusions about the possible causes of the development of polydactyly.     

Tubulin polymerization promoting proteins (TPPPs): members of a new family with distinct structures and functions

TPPP/p25 is a brain-specific protein, which induces tubulin polymerization and microtubule (MT) bundling and is enriched in Lewy bodies characteristic of Parkinson's disease [Tirián et al. (2003) Proc. Natl. Acad. Sci. U.S.A. 100, 13976-13981]. We identified two human gene sequences, CG1-38 and p25beta, which encoded homologous proteins, that we termed p20 and p18, respectively. These homologous proteins display 60% identity with tubulin polymerization promoting protein/p25 (TPPP/p25); however, the N-terminal segment of TPPP/p25 is missing. They could be clustered into three subfamilies present in mammals and other vertebrates. We cloned, isolated, and characterized the structural and functional properties of the recombinant human proteins at molecular, ultrastructural, and cellular levels using a number of tools. These data revealed that, while p20 behaved as a disorganized protein similarly to TPPP/p25, which was described as a flexible and inherently dynamic protein with a long unstructured N-terminal tail, p18 was featured in more ordered fashion. TPPP/p25 and p20 specifically attached to MTs causing MT bundling both in vitro and in vivo; p18 protein did not cross-link MTs, and it distributed homogeneously within the cytosol of the transfected HeLa cells. These data indicate that the two shorter homologues display distinct structural features that determine their associations to MTs. The properties of p20 resemble TPPP/p25. The bundling activity of these two proteins results in the stabilization of the microtubular network, which is likely related to their physiological functions.     

Recovery of native grass biodiversity by sowing on former croplands: Is weed suppression a feasible goal for grassland restoration?

Grassland restoration on former croplands offers good opportunity to mitigate the loss of grassland biodiversity. Weed suppression can be another benefit, which becomes increasingly important because of the high recent rate of abandonment of arable lands in Central and Eastern Europe. Our aim was to evaluate the usefulness of sowing two low-diversity seed mixtures followed by annual mowing, a frequently used restoration technique, in weed suppression. We found that rapidly forming cover of sown grasses effectively suppressed short-lived weeds and their germination except in the first year. The detected dense seed bank of short-lived weeds points out the possibility and threat of later weed infestation. In the short run perennial weeds cannot be suppressed easily by sowing and annual mowing. We found that the effectiveness of seed sowing followed by mowing in weed suppression can be different on sites with different history or seed mixture. Rapidly establishing perennial weeds, such as Agropyron species were only detected in former alfalfa fields; Cirsium arvense was found in former cereal and sunflower fields but not in former alfalfa fields. We found that the rate of weed suppression and success was influenced by the seed mixtures used. In several alkali restorations the high proportion of perennial weeds was detected in year 3. In loess restorations, much lower scores were typical. This was likely caused by the different seed mixture used. The loess seed mixture contained seeds of a clonally spreading tall-grass, Bromus inermis, which could compete more effectively with clonally spreading weeds, than could short grass species with or without tussock forming. Our findings indicate that post-restoration management require carefully designed actions that are fine-tuned addressing specific threats at the site level.     

Mutagenesis of the phosphatase sequence motif in diacylglycerol pyrophosphate phosphatase from Saccharomyces cerevisiae.

Diacylglycerol pyrophosphate (DGPP) phosphatase, encoded by the DPP1 gene, is a membrane-associated enzyme in the yeast Saccharomyces cerevisiae. The enzyme removes the beta phosphate from DGPP to form phosphatidate. The substrate and product of the DGPP phosphatase reaction play roles in lipid signaling and in cell metabolism. The deduced primary structure of the DGPP phosphatase protein contains a three-domain phosphatase sequence motif. In this work, we examined the hypothesis that the phosphatase sequence motif in the enzyme is involved in the DGPP phosphatase reaction. The amino acid residues Arg(125), His(169), and His(223) in domains 1, 2, and 3, respectively, of the phosphatase sequence motif were changed to alanine residues by site-directed mutagenesis. The mutant DPP1(R125A), DPP1(H169A), and DPP1(H223A) alleles were cloned into a yeast shuttle vector and then expressed in a dpp1Delta lpp1Delta double mutant that lacks DGPP phosphatase activity. Northern blot and immunoblot analyses showed that the mutations in the phosphatase sequence motif did not affect the expression of the enzyme. The DGPP phosphatase activities of the R125A, the H169A, and the H223A mutant enzymes were 0.05, 9, and 0.03%, respectively, of the DGPP phosphatase activity of the wild-type enzyme. Enzymes with mutations in more than one domain of the phosphatase sequence motif had no measurable DGPP phosphatase activity. The R125A and H233A mutant DGPP phosphatase enzymes had reduced V(max) and elevated K(m) values for DGPP when compared with the wild-type enzyme. The H169A mutant enzyme had reduced V(max) and K(m) values when compared with the control. The specificity constants (V(max)/K(m)()) for DGPP of the R125A mutant and H233A mutant enzymes were 4610-fold and 15 367-fold lower, respectively, when compared to the wild-type enzyme. The studies reported here indicated that the phosphatase sequence motif played an important role in the reaction catalyzed by the S. cerevisiae DGPP phosphatase.     

Phenology of high-arctic butterflies and their floral resources： Species-specific responses to climate change

Current global warming is particularly pronounced in the Arctic and arthropods are expected to respond rapidly to these changes. Long-term studies of individual arthropod species from the Arctic are, however, virtually absent. We examined butterfly specimens collected from yellow pitfall traps over 14 years （1996-2009） at Zackenberg in high-arctic, north-east Greenland. Specimens were previously sorted to the family level. We identified them to the species level and examined long-term species-specific phenological responses to recent summer wanning. Two species were rare in the samples （Polaris fritillary Boloria polaris and Arctic blue Plebejus glandon） and statistical analyses of phenological responses were therefore restricted to the two most abundant species （Arctic fritillary, B. chariclea and Northern clouded yellow Colias hecla）. Our analyses demonstrated a trend towards earlier flight seasons in B. chariclea, but not in C. hecla. The timing of onset, peak and end of the flight season in B. chariclea were closely related to snowmelt, July temperature and their interaction, whereas onset, peak and end of the flight season in C. hecla were only related to timing of snowmelt. The duration of the butterfly flight season was significantly positively related to the temporal overlap with floral resources in both butterfly species. We further demonstrate that yellow pitfall traps are a useful alternative to transect walks for butterfly recording in tundra habitats. More phenological studies of Arctic arthropods should be carded out at the species level and ideally be analysed in context with interacting species to assess how ongoing climate change will affect Arctic biodiversity in the near future [Current Zoology 60 （2）： 243-251, 2014].     

Down feather morphology reflects adaptation to habitat and thermal conditions across the avian phylogeny

Down feathers are the first feather types that appear in both the phylogenetic and the ontogenetic history of birds. Although it is widely acknowledged that the primary function of downy elements is insulation, little is known about the interspecific variability in the structural morphology of these feathers, and the environmental factors that have influenced their evolution. Here, we collected samples of down and afterfeathers from 156 bird species and measured key morphological characters that define the insulatory properties of the downy layer. We then tested if habitat and climatic conditions could explain the observed between-species variation in down feather structure. We show that habitat has a very strong and clearly defined effect on down feather morphology. Feather size, barbule length and nodus density all decreased from terrestrial toward aquatic birds, with riparian species exhibiting intermediate characters. Wintering climate, expressed as windchill (a combined measure of the ambient temperature and wind speed) had limited effects on down morphology, colder climate only being associated with higher nodus density in dorsal down feathers. Overall, an aquatic lifestyle selects for a denser plumulaceous layer, while the effect of harsh wintering conditions on downy structures appear limited. These results provide key evidence of adaptations to habitat at the level of the downy layer, both on the scale of macro- and micro-elements of the plumage. Moreover, they reveal characters of convergent evolution in the avian plumage and mammalian fur, that match the varying needs of insulation in terrestrial and aquatic modes of life.     

Phytochemical and pharmacological investigation of <Emphasis Type="Italic">Spiraea chamaedryfolia</Emphasis>: a contribution to the chemotaxonomy of <Emphasis Type="Italic">Spiraea</Emphasis> genus

Objective

Diterpene alkaloids are secondary plant metabolites and chemotaxonomical markers with a strong biological activity. These compounds are characteristic for the Ranunculaceae family, while their occurrence in other taxa is rare. Several species of the Spiraea genus (Rosaceae) are examples of this rarity. Screening Spiraea species for alkaloid content is a chemotaxonomical approach to clarify the classification and phylogeny of the genus. Novel pharmacological findings make further investigations of Spiraea diterpene alkaloids promising.

Results

Seven Spiraea species were screened for diterpene alkaloids. Phytochemical and pharmacological investigations were performed on Spiraea chamaedryfolia, the species found to contain diterpene alkaloids. Its alkaloid-rich fractions were found to exert a remarkable xanthine-oxidase inhibitory activity and a moderate antibacterial activity. The alkaloid distribution within the root was clarified by microscopic techniques.