Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay,Hypotonia, Scoliosis,and Cerebellar Atrophy

The paradigm of a single gene associated with one specific phenotype and mode of inheritance has been repeatedly challenged. Genotype-phenotype correlations can often be traced to different mutation types, localization of the variants in distinct protein domains, or the trigger of or escape from nonsense-mediated decay. Using whole-exome sequencing, we identified homozygous variants in EMC1 that segregated with a phenotype of developmental delay, hypotonia, scoliosis, and cerebellar atrophy in three families. In addition, a de novo heterozygous EMC1 variant was seen in an individual with a similar clinical and MRI imaging phenotype. EMC1 encodes a member of the endoplasmic reticulum (ER)-membrane protein complex (EMC), an evolutionarily conserved complex that has been proposed to have multiple roles in ER-associated degradation, ER-mitochondria tethering, and proper assembly of multi-pass transmembrane proteins. Perturbations of protein folding and organelle crosstalk have been implicated in neurodegenerative processes including cerebellar atrophy. We propose EMC1 as a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum.     

First report of Chilo partellus in Turkey,a new invasive maize pest for Europe

The spotted stem borer, Chilo partellus (Swinhoe, 1885) (Lepidoptera: Crambidae), an invasive pest of wild and cultivated grasses in Asia and Africa, was found for the first time during periodic surveys of maize fields in the East Mediterranean region of Turkey in September and October 2014. The pest was recorded in maize fields of three of four provinces surveyed (Adana, Hatay and Osmaniye; it was not detected in Icel province). The Mediterranean corn stalk borer, Sesamia nonagrioides Lefebvre (Lepidoptera: Noctuidae), is the dominant maize pest in the East Mediterranean region of Turkey, followed by the European corn borer, Ostrinia nubilalis (Hübner) (Lepidoptera: Crambidae). The new invasive species comprised 4.9% of the total number of collected lepidopteran pests collected from maize stems and cobs in locations infested by C. partellus. No natural enemies of the new pest were recorded during our surveys. We discuss possible interactions among these three lepidopteran pests sharing the same habitat, prospects for control of C. partellus by the control methods currently used against S. nonagrioides and O. nubilalis, and also speculate on the path of invasion taken by C. partellus into Turkey.     

CHK2 1100delC,IVS2 + 1G>A and I157T mutations are not present in hepatocellular cancer cases from a Turkish population

Aim

The cell cycle checkpoint kinase 2 (CHK2) protein participates in the DNA damage response in many cell types. Germline mutations in CHK2 (1100delC, IVS2 + 1G>A and I157T) have been associated with a range of cancer types. This study aimed to investigate whether CHK2 1100delC, IVS2 + 1G>A and I157T mutations play an important role in the development of hepatocellular carcinoma (HCC) in a Turkish population.

Methods

A total of 165 hepatocellular cancer cases and 446 cancer-free controls were genotyped for CHK2 mutations by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific-polymerase chain reaction (AS-PCR) methods.

Results

We did not find CHK2 1100delC, IVS2 + 1G>A and I157T mutations in any of 611 Turkish subjects.

Conclusion

Our results demonstrate for the first time that CHK2 1100delC, IVS2 + 1G>A and I157T mutations have not been a genetic susceptibility factor for HCC in the Turkish population. Overall, our data suggests that genotyping of CHK2 mutations in clinical settings in the Turkish population should not be recommended. Independent studies are needed to validate our findings in a larger series, as well as in patients of different ethnic origins.     

Reproduction in the Mediterranean endemic gorgonian Spinimuricea klavereni (Anthozoa,Octocorallia, Plexauridae)

Spinimuricea klavereni is a Mediterranean endemic gorgonian that is rarely encountered, probably because it typically occurs at depths below 50 m. It is exceptionally common in the northern Marmara Sea, with an unusually shallow upper depth limit of ~20 m. The reproductive biology of this species was studied during a one year period off Büyükada, in the northeastern Marmara Sea. Spinimuricea klavereni is a gonochoric broadcast spawner with an almost even sex ratio. Colonies were ~15 cm in height at first reproduction. Gametogenesis was continuous, characterized by high male and female fecundities year‐round. Oocytes and sperm sacs of all developmental stages were found throughout the year, with small‐sized oocytes and sperm sacs dominant throughout the year. The reproduction of S. klavereni did not seem to exhibit any marked seasonal pattern, unlike most other studied Mediterranean octocorals. Modest variation in gamete output was probably related to slight alterations in food availability and temperature. The non‐seasonal reproductive pattern we observed may be related to the low intra‐annual variation in temperature in the Marmara Sea, and the fact that the mesotrophic‐eutrophic level of productivity in the Marmara Sea can support the energetic requirements of continuous gametogenesis in this gorgonian. Whether these patterns are local adaptations or intrinsic characteristics for this Mediterranean endemic species remains to be studied.     

The protein kinase ImeB is required for light-mediated inhibition of sexual development and for mycotoxin production in Aspergillus nidulans

Spore formation is a common process in the developmental cycle of fungi. In the yeast Saccharomyces cerevisiae, Ime2 is a key protein kinase for the meiotic cell cycle, which precedes ascospore formation. Here, we analysed the IME2 -related imeB gene of the filamentous ascomycete Aspergillus nidulans. imeB deletion strains are retarded in growth and overproduce fertile sexual fruiting bodies in the presence of light, which normally represses sexual development. imeB mutants also display abnormal differentiation of sexual Hülle cells in submerged cultures. Increased sexual development of imeB mutants is dependent on VeA, a component of the heterotrimeric velvet complex. A combined deletion of imeB with the phytochrome fphA , a red light receptor, results in a complete loss of light response, suggesting that ImeB and FphA cooperate in light-mediated inhibition of sexual development. Furthermore, we found that imeB mutants fail to produce the mycotoxin sterigmatocystin, an aflatoxin precursor, and show that ImeB is needed for expression of the sterigmatocystin gene cluster. ImeB contains a TXY motif conserved in mitogen-activated protein kinases. This sequence element is essential for ImeB function. We conclude that ImeB is a mitogen-activated protein kinase-related protein kinase required for the co-ordinated control of light-dependent development with mycotoxin production.     

Evaluation of antioxidant and antiproliferative activities of 1,2‐bis (p‐amino‐phenoxy) ethane derivative Schiff bases and metal complexes

In this study, the effects of the two Schiff base derivatives and their metal complexes were tested for MDA concentration, which is an indicator of lipid peroxidation, antioxidant vitamin A, vitamin E, and vitamin C levels in cell culture. A comparison was performed among the groups and it was observed that MDA, vitamin A, vitamin E, and vitamin C concentrations were statistically changed. According to the results, all compounds caused a significant oxidative stress without Zn complexes. Moreover, Mn(II), Cu(II), Zn(II), and Ni(II) complexes of Schiff bases derived from a condensation of 1,2‐bis (p‐aminophenoxy) ethane with naphthaldehydes and 4‐methoxy benzaldehyde were examined in terms of antitumor activity against MCF‐7 human breast cancer and L1210 murine leukemia cells. Furthermore, the derivatives were tested for antioxidative and prooxidative effects on MCF‐7 breast cancer cells. The compounds which were tested revealed that there was an antitumor activity for MCF‐7 and L 1210 cancer cells. Also, some of the compounds induced oxidative harmful.