Evaluating the association of rs6983267 polymorphism of the CCAT2 gene with thyroid cancer susceptibility in the Iranian Azeri population.

Thyroid cancer is the most common malignancy of the endocrine system. LncRNAs play critical role in various cellular processes and are associated with several diseases. CCAT2 is a lncRNA molecule overexpressed in thyroid cancer. Single nucleotide polymorphisms in CCAT2 gene can cause changes in the structure and function of CCAT2 transcripts and susceptibility to several diseases. This study aimed to evaluate the association of rs6983267 in CCAT2 gene with thyroid cancer susceptibility in the Azeri population of Iran. In this "case-control" study, genomic DNA was extracted from peripheral blood of 102 individuals affected by thyroid cancer and 103 healthy individuals as controls. Genotyping was performed using TETRA-ARMS polymerase chain reaction. Statistical analysis showed no significant association between genotypes and/or alleles with the occurrence of thyroid cancer in the studied population, patients' gender, and tumor type. Nevertheless, we found that the allelic and genotypic distribution of this SNP was associated with the size of thyroid tumors in patients. It is assumed that investigating more individuals from both case and control group may further determine the genotypic and allelic frequencies of this SNP locus in Iranian-Azeri population.

Improvement of the recombinant human coagulation factor IX expression by co-expression of a novel transcript of Drosophila γ carboxylase in a human cell line.

OBJECTIVE: Mammalian cells as the main host for production of human proteins are incapable of complete γ-carboxylation of over-expressed Vitamin K Dependent (VKD) proteins. The Drosophila γ-glutamyl carboxylase (DγC) has been shown to be more efficient than its human counterpart in γ-carboxylation of human substrates, in vitro. Considering the Drosophila γ-carboxylase (DγC) efficiency, in comparison with its human counterpart, for recognition and γ-carboxylation of a human substrate in vitro, we were determined to study the effect of the DγC on the hFIX expression in a mammalian cell line. With this aim, we examined co-expression of the DγC with the hFIX, in a human cell line. RESULTS: While the co-expression of a complete DγC cDNA reduced the hFIX expression, a truncated form of DγC could improve both the expression level (up to 1211 ng/106 cells/ml on the 4th day of post-transfection) and carboxylation of the expressed hFIX, significantly (p < 0.009). CONCLUSIONS: Our findings provided evidences for potential of a partial fragment of the DγC for improvement of the γ-carboxylation of a human substrate in a mammalian cell. Our experimental data, in accordance with in silico analysis suggested that the DγC C-terminal fragment, with the advantage of a Kozak-like element has the potential of being expressed as a separate internal translation unit, to generate a peptide with appropriate γ-carboxylase activity.

Transcriptional expression analysis of survivin splice variants reveals differential expression of survivin-3α in breast cancer.

Survivin, which is a novel member of the inhibitor of apoptosis family proteins, is known to play an important role in the regulation of cell cycle and apoptosis. Differential expression of survivin in tumor tissues introduces it as a new candidate molecular marker for cancer. Here we investigated the expression of survivin and its splice variants in breast tumors, as well as normal adjacent tissues obtained from the same patients. Thirty five tumors and 17 normal adjacent tissues from women diagnosed with breast cancer were explored in this study. Differential expression of different survivin splice variants was detected and semiquantitatively analyzed using reverse transcription-polymerase chain reaction. Results showed that survivin and its splice variants were differentially expressed in tumor specimens compared with normal adjacent tissues. The expression of survivin-3B and survivin-3α was specifically detected in tumor tissues compared with normal adjacent ones (53% in tumor tissues compared to 5% in normal adjacent for survivin-3B and 65% in tumor tissues and 0.0% in normal adjacent tissues for survivin-3α). Statistical analysis showed that survivin and survivin-ΔEx3 were upregulated in benign (90%, p<0.034) and malignant (76%, p<0.042) tumors, respectively. On the other hand, our results showed that survivin-2α (100% of the cases) was the dominant expressed variant of survivin in breast cancer. The data presented here showed that survivin splice variants were differentially expressed in benign and malignant breast cancer tissues, suggesting their potential role in breast cancer development. Differential expression of survivin-2α and survivin-3α splice variants highlights their usefulness as new candidate markers for breast cancer diagnosis and prognosis.