Large duplication 4q25-q34 with mild clinical effect

We report on a 5-year-old Tunisian boy with particular dysmorphic features and mild mental retardation limited in delayed and poor language acquisition. Cytogenetic analysis using RHG banding and FISH using whole chromosome four painting probe showed a partial duplication in the long arm of chromosome four. Locus specific probes and CGH confirmed the presence of a 'pure' partial trisomy 4q due to de novo direct tandem dup(4)(q25q34). Comparative analysis of our case with those published previously, suggests that region 4q31-q33 may be involved in the development of the 4q characteristic dysmorphic features and the distal band 4q35 may be involved in the development of microcephaly and severe mental and growth retardation.     

Past and present fish species recorded in the estuarine Lake Ichkeul,northern Tunisia

Lake Ichkeul in northern Tunisia is a Ramsar site, a MAB Biosphere Reserve and a UNESCO World Heritage Site. The system is one of the most important coastal wetlands in North Africa, especially as an over-wintering area for migratory birds, particularly Palaearctic waterfowl. The present study was aimed at diagnosing the status of fish species in Lake Ichkeul and documenting their annual and seasonal occurrence within the system. Fish samples were collected monthly at 22 sites from March 2011 to April 2012 using a variety of gears, including a dragnet, gillnet, trammelnet, frynet and beach-seine. Temperature and salinity measurements were taken at each site, while fishes were obtained from only 11 sites, representing mainly lacustrine stations. A total of 18 fish species belonging to 14 genera and 12 families were identified, with Mugilidae dominating with four species, followed by Syngnathidae with three species. This study represents a relative recovery in terms of fish species richness, since only 13 species were recorded here between 2003 and 2007. However, the numbers of fish caught, especially of the commercial taxa, seem to have declined in recent years, and the number of species currently present is much lower than that of several decades ago. Increasing human pressures, particularly reductions in catchment freshwater inputs, a breakdown in ecosystem connectivity, pollution and over-fishing appear to be the principal causes for the decline in fish abundance and diversity.     

Higher-level snake phylogeny inferred from mitochondrial DNA sequences of 12S rRNA and 16S rRNA genes

Portions of two mitochondrial genes (12S and 16S ribosomal RNA) were sequenced to determine the phylogenetic relationships among the major clades of snakes. Thirty-six species, representing nearly all extant families, were examined and compared with sequences of a tuatara and three families of lizards. Snakes were found to constitute a monophyletic group (confidence probability [CP] = 96%), with the scolecophidians (blind snakes) as the most basal lineages (CP = 99%). This finding supports the hypothesis that snakes underwent a subterranean period early in their evolution. Caenophidians (advanced snakes), excluding Acrochordus, were found to be monophyletic (CP = 99%). Among the caenophidians, viperids were monophyletic (CP = 98%) and formed the sister group to the elapids plus colubrids (CP = 94%). Within the viperids, two monophyletic groups were identified: true vipers (CP = 98%) and pit vipers plus Azemiops (CP = 99%). The elapids plus Atractaspis formed a monophyletic clade (CP = 99%). Within the paraphyletic Colubridae, the largely Holarctic Colubrinae was found to be a monophyletic assemblage (CP = 98%), and the Xenodontinae was found to be polyphyletic (CP = 91%). Monophyly of the henophidians (primitive snakes) was neither supported nor rejected because of the weak resolution of relationships among those taxa, except for the clustering of Calabaria with a uropeltid, Rhinophis (CP = 94%).      

Monophyly of the order Rodentia inferred from mitochondrial DNA sequences of the genes for 12S rRNA, 16S rRNA, and tRNA-valine

A recent analysis of amino acid sequence data (Graur et al.) suggested that the mammalian order Rodentia is polyphyletic, in contrast to most morphological data, which support rodent monophyly. At issue is whether the hystricognath rodents, such as the guinea pig, represent an independent evolutionary lineage within mammals, separate from the sciurognath rodents. To resolve this problem, we sequenced a region (2,645 bp) of the mitochondrial genome of the guinea pig containing the complete 12S ribosomal RNA, 16S ribosomal RNA, and transfer RNA(VAL) genes for comparison with the available sciurognath and other mammalian sequences. Several methods of analysis and statistical tests of the data all show strong support for rodent monophyly (91%-98% bootstrap probability, or BP). Calibration with the mammalian fossil record suggests a Cretaceous date (107 mya) for the divergence of sciurognaths and hystricognaths. An older date (38 mya) for the controversial Mus- Rattus divergence also is supported by these data. Our neighbor-joining analyses of all available sequence data (25 genes) confirm that some individual genes support rodent polyphyly but that tandem analysis of all data does not. We propose that the conflicting results are due to several compounding factors. The unique biochemical properties of some hystricognath metabolic proteins, largely responsible for generating this controversy, may have a single explanation: a cascade effect resulting from inactivation of the zinc-binding abilities of insulin. After excluding six genes possibly affected by insulin inactivation, analyses of all available sequence data (7,117 nucleotide sites, 3,099 amino acid sites) resulted in strong support for rodent monophyly (94% BP for DNA sequences, 90% for protein sequences), which lends support to the insulin-cascade hypothesis.      

The impact of agricultural management on soil aggregation and carbon storage is regulated by climatic thresholds across a 3000 km European gradient

Organic carbon and aggregate stability are key features of soil quality and are important to consider when evaluating the potential of agricultural soils as carbon sinks. However, we lack a comprehensive understanding of how soil organic carbon (SOC) and aggregate stability respond to agricultural management across wide environmental gradients. Here, we assessed the impact of climatic factors, soil properties and agricultural management (including land use, crop cover, crop diversity, organic fertilization, and management intensity) on SOC and the mean weight diameter of soil aggregates, commonly used as an indicator for soil aggregate stability, across a 3000 km European gradient. Soil aggregate stability (−56%) and SOC stocks (−35%) in the topsoil (20 cm) were lower in croplands compared with neighboring grassland sites (uncropped sites with perennial vegetation and little or no external inputs). Land use and aridity were strong drivers of soil aggregation explaining 33% and 20% of the variation, respectively. SOC stocks were best explained by calcium content (20% of explained variation) followed by aridity (15%) and mean annual temperature (10%). We also found a threshold-like pattern for SOC stocks and aggregate stability in response to aridity, with lower values at sites with higher aridity. The impact of crop management on aggregate stability and SOC stocks appeared to be regulated by these thresholds, with more pronounced positive effects of crop diversity and more severe negative effects of crop management intensity in nondryland compared with dryland regions. We link the higher sensitivity of SOC stocks and aggregate stability in nondryland regions to a higher climatic potential for aggregate-mediated SOC stabilization. The presented findings are relevant for improving predictions of management effects on soil structure and C storage and highlight the need for site-specific agri-environmental policies to improve soil quality and C sequestration.     

2,4-D induction of somaclonal variations in in vitro grown date palm (Phoenix dactylifera L. cv Barhee)

Plant Cell, Tissue and Organ Culture (PCTOC) - The present study is a part of a program designed at improving the date palm, Phoenix dactylifera L. cv. Barhee, through induced somaclonal variation....     

A statistical approach for optimization of R-phycoerythrin extraction from the red algae Gracilaria verrucosa by enzymatic hydrolysis using central composite design and desirability function

The aim of this research is to statistically optimize enzymatic hydrolysis parameters for the production of R-phycoerythrin (RPE) from red algae Gracilaria verrucosa. Six independent variables, incubation temperature, incubation time, ratio of buffer to raw material, cellulase loading, xylanase loading, and pH, were selected for response surface methodology studies. A central composite design was employed to maximize RPE production. A mathematical model with high determination coefficient (R ²?=?0.86) was developed and could be employed to optimize RPE extraction. The optimal extraction conditions of RPE were determined as follows: incubation temperature (48°C), incubation time (6?h), ratio of buffer to raw material (20 w/v), cellulase loading (15%), xylanase loading (5%), and pH (6.5). Under this optimal condition, the experimental yield of RPE was 6.25?mg?g^?1. Based on the result of response surface methodology and desirability function approach study, total sugar, the main by-product in RPE extraction was considered as another response. A new optimal condition was predicted as follows: incubation temperature (30°C), incubation time (12?h), ratio of buffer to raw material (20, w/v), cellulase loading (15%), xylanase loading (5%), and pH (6). Under this condition, similar RPE levels were obtained while the concentration of total sugar decreased by 40%.