De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region,Cause Intellectual Disability

To identify further Mendelian causes of intellectual disability (ID), we screened a cohort of 996 individuals with ID for variants in 565 known or candidate genes by using a targeted next-generation sequencing approach. Seven loss-of-function (LoF) mutations—four nonsense (c.1195A>T [p.Lys399^∗], c.1333C>T [p.Arg445^∗], c.1866C>G [p.Tyr622^∗], and c.3001C>T [p.Arg1001^∗]) and three frameshift (c.2177_2178del [p.Thr726Asnfs^∗39], c.3771dup [p.Ser1258Glufs^∗65], and c.3856del [p.Ser1286Leufs^∗84])—were identified in SETD5, a gene predicted to encode a methyltransferase. All mutations were compatible with de novo dominant inheritance. The affected individuals had moderate to severe ID with additional variable features of brachycephaly; a prominent high forehead with synophrys or striking full and broad eyebrows; a long, thin, and tubular nose; long, narrow upslanting palpebral fissures; and large, fleshy low-set ears. Skeletal anomalies, including significant leg-length discrepancy, were a frequent finding in two individuals. Congenital heart defects, inguinal hernia, or hypospadias were also reported. Behavioral problems, including obsessive-compulsive disorder, hand flapping with ritualized behavior, and autism, were prominent features. SETD5 lies within the critical interval for 3p25 microdeletion syndrome. The individuals with SETD5 mutations showed phenotypic similarity to those previously reported with a deletion in 3p25, and thus loss of SETD5 might be sufficient to account for many of the clinical features observed in this condition. Our findings add to the growing evidence that mutations in genes encoding methyltransferases regulating histone modification are important causes of ID. This analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of ID.     

Comparative study of the thermal properties of mud and peat solutions applied in clinical practice.

Different peloids as e.g. mud and peat have been traditionally used for therapeutic purposes successfully, especially of there thermal actions. It was the aim of the experimental study to compare the thermal properties of two peloids, mud and peat, with a view to assessing their thermal effects when they are applied in clinical practice. The studies were carried out using peat of the marsh type of peats (Hochmoor), and curative Pomorie (Bulgaria) mud. As important parameters were determined the specific thermal capacity at constant pressure (Cp), the density of solutions (rho), the cooling rate (m), the coefficient of temperature transfer (a) of solutions and the coefficient of thermal conductivity (lambda) of solutions of peat and curative mud, compared to water bath. The comparative studies of the thermal properties of water and water solutions of peat and curative mud show that the thermal effect of the water bath is substantially smaller than that of the peat and mud applications. This difference is due to a greater extent to the high values of the dynamic viscosity, not allowing cooling by convection and protecting the surface of the skin upon applications of peloid solutions with a higher temperature.     

Biomass, protein- and carbohydrate-composition of phytoplankton in Varna Bay, Black Sea

It was shown that phytoplankton from the Varna Bay, Black Sea, has significantly more suspended carbohydrates, proteins and biomass in July than in April. The dominant species were Bacillariophyceae and Dinophyceae. Electrophoretic and fluorescent spectra have shown the main differences in molecular weight and stability of phytoplankton proteins. Phytoplankton included specific proteins distributed over a limited range of molecular weights between 14 and 72 kilodaltons (kDa). The most abundant protein constituents in phytoplankton samples collected in April were around 45–55 kDa. The seasonal variations of the environment influence the quantitative and qualitative changes in phytoplankton.     

Effects of low temperature,genotype and culture media on in vitro androgenic answer of pepper (<Emphasis Type="Italic">Capsicum annuum</Emphasis> L.)

Anther culture is one of the most important and useful tool to create pure lines for plant breeding programs rapidly. Some pepper genotypes are recalcitrant and embryogenic frequency in anther culture is still low or reaction is not observed at all. Temperature stress (low or high) can facilitate switching the microspore to sporophyte developmental pathway. In this study, some differences were found in embryogenic reaction among the pepper genotypes and culture media variants, depending on duration of cold treatment of flower buds. Experimental results indicated that embryogenic efficiency decreased under low-temperature stress. Nevertheless, positive effect of cold pretreatment on direct embryo induction was obtained in four genotypes—cultivar Hebar, hybrid 50/01 and lines 668/02 and 1312/02. Increasing of embryogenic reaction after cold pretreatment was observed in media variants C (24 h) and MS-3 + (24 and 48 h), while on medium variant C-0 direct embryo formation was registered only after 48 h cold pretreatment. These results show that the donor genotypes have specific requirements for type and duration of temperature pretreatment and also culture media for induction of androgenesis with higher frequency.     

Cytogenetic characterization of the Trinidad endemic, Arachnocoris trinitatus Bergroth: the first data for the tribe Arachnocorini (Heteroptera: Cimicomorpha: Nabidae)

As an extension of the ongoing cytogenetic studies of the bug family Nabidae (Heteroptera: Cimicomorpha), the first evidence for the tribe Arachnocorini (the subfamily Nabinae), with reference to the Trinidad endemic, Arachnocoris trinitatus Bergroth, is provided. This is an attempt to gain a better insight into the evolution, systematics and within-family relationships of the family Nabidae. The studies were conducted using a number of cytogenetic techniques. The male karyotype (chromosome number and size; sex chromosome system; NOR location; C-heterochromatin amount, distribution and characterization in terms of the presence of AT-rich and GC-rich DNA), and male meiosis with particular emphasis on the behavior of the sex chromosomes in metaphase II are described. Also investigated are the male and female internal reproductive organs with special reference to the number of follicles in a testis and the number of ovarioles in an ovary. A. trinitatus was found to display a number of characters differentiating it from all hitherto studied nabid species placed in the tribe Nabini of the subfamily Nabinae, and in the tribe Prostemmatini of the subfamily Prostemmatinae. Among these characters are chromosome number 2n = 12 (10 + XY), the lowest within the family, nucleolus organizer regions (NORs) situated on the autosomes rather than on the sex chromosomes as is the case in other nabid species, and testes composed of 3 follicles but not of 7 as in other nabids. All the data obtained suggest many transformations during the evolution ofA. trinitatus.     

Production of casein hydrolysates by extracellular acid proteinases of immobilized Humicola lutea cells

Casein hydrolysis was studied during the cultivation of immobilized Humicola lutea cells producing acid proteinases. By monitoring the cultivation with time, various casein hydrolysates could be obtained, from partially modified proteins (yield 80%) with improved emulsion properties to peptones (yield > 50%) with a degree of hydrolysis >40%. The casein from the fermentation medium appeared to be simultaneously a nitrogen source, an inducer of proteinase biosynthesis, and a substrate for the production of casein hydrolysates. Casein (4%) and glucose (2%) ensured optimal cultivation conditions. The fungal cells, immobilized in calcium alginate beads, required a short cultivation time and demonstrated comparable hydrolysis of casein during five to seven reuses in batch mode. Correspondence to: B. Tchorbanov