• 대한영상의학회지
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• 제83권1호
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• pp.246-251
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• 2022

Li-Fraumeni 증후군(이하 LFS)은 TP53 종양 억제 유전자의 생식세포 돌연변이로 인한 상염색체 우성 종양 유발 유전 질환이다. LFS 환자에서는 치료 후 치료와 관련된 암이 발생하기 때문에 LFS 환자에서 발생한 유방암의 치료에 있어 방사선 요법을 피해야 한다. 저자들은 LFS 환자에서 발생한 유방 육종의 방사선 및 화학 요법 치료 후 발생한 유방암 증례를 보고한다.

• Journal of Microbiology
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• 제39권1호
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• pp.49-55
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• 2001

We have developed four chicken hybridomas secreting monoclonal antibodies to induce a protective immune response against the chicken disease avian coccidiosis, caused by the intestinal parasite Eimeria acervulina. Huwever, since the amount of antibodies secreted from these hybridomas is too low or sometimes they lost their ability to produce antibodies, the hybridoma method is not satisfactory in the production of large amounts of chicken monoclonal antibodies. To bypass these problems, we applied the antibody engineering technology using polymerase chain reaction. We cloned and determined the sequences of variable domains of the four chicken monoclonal antibodies, namely, 2-1, 5D11, 13C8 and 8C3. The sequences comparison to germline sequences skewed that the gene con version mechanism might contribute to developing diversification of heavy and λ-light chains in chicken antibodies. Several pseudogene families regarded as donors in gene conversion were identified at each framework region and the complementarily determining region of λ-light chains. In addition, as expected, numerous changes of nucleotide sequences such as nucleotide substitution, insertion and deletion were found predominantly in complementarity determining regions, which are likely to be somatic hypermutations as a result of affinity maturation in antibody-producing cells.

• Clinical and Experimental Pediatrics
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• 제48권3호
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• pp.337-341
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• 2005

선천성 갑상선 항진증은 드문 질환으로 모체로부터 TSH에 대한 자가항체가 태반을 통해 태아에게 전달되어 생기며 일시적인 경우가 많다. 선천성 갑상선 항진증이 지속되지만 자가면역질환의 검사 소견을 보이지 않을 때에는 TSHR의 돌연변이에 의한 갑상선 항진증을 고려해야 한다. 저자들은 TSHR의 돌연변이에 의한 갑상선 항진증 증례를 2례 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• IMMUNE NETWORK
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• 제4권3호
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• pp.166-175
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• 2004

Background: Telomerase, a ribonucleoprotein enzyme capable of synthesizing telomeric repeats, attracts attention for its possible role in determining the replicative capacity of normal somatic cells, transformed cells, and cells of the germline lineage. Differently from normal somatic cells with no telomerase activity, normal lymphocytes has been reported to have telomerase activity comparable to that found in transformed cells during development and activation, which substantiate a role in supporting the capacity of lymphocytes for extensive clonal expansion. Methods: Here, in order to define the telomerase regulation in murine T lymphocytes, telomerase activity in cloned murine $CD8^+$ T cells and naive $CD8^+$ T cells isolated from C57BL/6 mice was examined. Next, the regulatory mechanism of telomerase activity at transcriptional and post- translational levels was investigated by determining the expression level of the TERT protein, a key component for telomerase activity. Results: It was demonstrated that telomerase activity was expressed in an inactivated state as well as in an activated state in the murine $CD8^+$ T lymphocytes by using TRAP assay. The increase of telomerase activity was partially dependent on the net increase of TERT expression. Also, telomerase activity was decreased after treatment with protein kinase inhibitors, indicating that telomerase activation was prevented by inhibition of phosphorylation. Conclusion: Therefore, these results suggest that telomerase activity is constitutively expressed in the murine resting T lymphocytes and controlled by both transcriptional regulation and post- ranslational modifications.

• Asian Pacific Journal of Cancer Prevention
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• 제13권11호
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• pp.5865-5869
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• 2012

RHOXF1 has been shown to be expressed in embryonic stem cells, adult germline stem cells and some cancer lines. It has been proposed as a candidate gene to encode transcription factors regulating downstream genes in the human testis with antiapoptotic effects. Its expression in cancer cell lines has implied a similar role in the process of tumorigenesis. The human breast cancer cell lines MDA-MB-231 and MCF-7 were cultured in DMEM medium and transfected with a pGFP-V-RS plasmid bearing an RHOXF1 specific shRNA. Quantitative real-time RT-PCR was performed for RHOXF1, CASP8, BCL2 and HPRT genes. Decreased RHOXF1 expression was confirmed in cells after transfection. shRNA knock down of RHOXF1 resulted in significantly decreased BCL2 expression in both cell lines but no change in CASP8 expression. shRNA targeting RHOXF1 was shown to specifically mediate RHOXF1 gene silencing, so RHOXF1 can mediate transcriptional activation of the BCL2 in cancers and may render tumor cells resistant to apoptotic cell death induced by anticancer therapy. shRNA mediated knock down of RHOXF1 can be effective in induction of apoptotic pathway in cancer cells via BCL2 downregulation, so it can have potential therapeutic utility for human breast cancer.

• Asian Pacific Journal of Cancer Prevention
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• 제16권5호
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• pp.1737-1742
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• 2015

Background: Mitochondrial DNA (mtDNA) mutations have been shown to be associated with cancer. This study explored whether mtDNA mutations enhance cholangiocarcinoma (CCA) development in individuals. Materials and Methods: The whole mitochondrial genome sequences of 25 CCA patient tissues were determined and compared to those of white blood cells from the corresponding individuals and 12 healthy controls. The mitochondrial genome was amplified using primers from Mitoseq and compared with the Cambridge Reference Sequence. Results: A total of 161 mutations were identified in CCA tissues and the corresponding white blood cells, indicating germline origins. Sixty-five (40%) were new. Nine mutations, representing those most frequently observed in CCA were tested on the larger cohort of 60 CCA patients and 55 controls. Similar occurrence frequencies were observed in both groups. Conclusions: While the correspondence between the cancer and mitochondrial genome mutation was low, it is of interest to explore the functions of the missense mutations in a larger cohort, given the possibility of targeting mitochondria for cancer markers and therapy in the future.

• 한국가금학회지
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• 제27권1호
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• pp.73-78
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• 2000

Embryonic stem (ES) cells are pluripotent cell lines, which derived from preimplantation embryo. These cells have been used as a vehicle of foreign DNA for production of transgenic mammals. this experiment was performed to examined the possible use of blastodermal cells derived from hen's egg for germline manipulation. Stage X blsdtodermal cells isolated from fertilized eggs were cultured in DMEM containing 15% fetal calf serum. Blastodermal cells wre co-cultured on the chicken embryonic fibroblast (CEF) or mouse embryonic fibroblast(MEF) cells. to examine the effects of growth factors on stem cell growth, bFGF and LIF were added. There was no significant difference in colony formation of putative ES cells between CEF and MEF as a feederlayer, but the addition of growth factors enhanced the proliferation and inhibited differentiation of blastodermal cells. To characterize the cell colonies as a putative ES cells, putative embryonic cell colonies were stained by periodic acid Schiffs (PAS) reagent. The putative ES cell colonies showed intensive positive reaction similar to the property of undifferentiated PGC upto 20days in vitro, but not in other cell types. this result demonstrates that PAS-positive cell colonies may be used for the study of establishment of chicken ES cell lines for the production of transgenic chicken.

• Journal of Animal Science and Technology
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• 제50권1호
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• pp.9-18
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• 2008

본 연구에서는 조류에서 종 특이적인 DNA 염기서열변이를 검증하기 위하여 닭, 꿩, 칠면조, 메추리의 immunoglobulin light chain constant domain 유전자를 클로닝하여 DNA염기서열을 분석하였다. 종간에 구별이 가능한 DNA 염기서열변이가 위의 유전자에서 관찰되었다. PCR을 이용하여 종을 구별하기 위하여 종 사이에 특이적인 DNA 염기서열 부위에 한 쌍의 종 특이적인 프라이머를 제작하였다. 또한 비교실험을 위하여 이미 알려진 cytochrome b와 tapasin 유전자에서도 두 쌍의 종 특이적 프라이머를 제작하였다. PCR결과 세 쌍의 프라이머 모두 종 특이적으로 DNA를 증폭하였다. Immunoglobulin 유전자의 염기서열 변이를 이용한 종 특이적인 PCR 방법은 조류의 유전자원 보존을 위한 이종간 카이메라 연구에 유용하게 이용될 수 있을 것이다.

• BMB Reports
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• 제53권10호
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• pp.521-526
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• 2020

Endogenous retroviruses (ERVs) are retrotransposons present in various metazoan genomes and have been implicated in metazoan evolution as well as in nematodes and humans. The long terminal repeat (LTR) retrotransposons contain several regulatory sequences including promoters and enhancers that regulate endogenous gene expression and thereby control organismal development and response to environmental change. ERVs including the LTR retrotransposons constitute 8% of the human genome and less than 0.6% of the Caenorhabditis elegans (C. elegans) genome, a nematode genetic model system. To investigate the evolutionarily conserved mechanism behind the transcriptional activity of retrotransposons, we generated a transgenic worm model driving green fluorescent protein (GFP) expression using Human endogenous retroviruses (HERV)-K LTR as a promoter. The promoter activity of HERV-K LTR was robust and fluorescence was observed in various tissues throughout the developmental process. Interestingly, persistent GFP expression was specifically detected in the adult vulva muscle. Using deletion constructs, we found that the region from positions 675 to 868 containing the TATA box was necessary for promoter activity driving gene expression in the vulva. Interestingly, we found that the promoter activity of the LTR was dependent on che-1 transcription factor, a sensory neuron driver, and lin-15b, a negative regulator of RNAi and germline gene expression. These results suggest evolutionary conservation of the LTR retrotransposon activity in transcriptional regulation as well as the possibility of che-1 function in non-neuronal tissues.

• Toxicological Research
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• 제19권1호
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• pp.13-19
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• 2003

GX-12 is a naked DNA vaccine developed by the DongA Pharmaceutical Co. Ltd. and Genexine for the treatment of HIV infection. This study was peformed to evaluate the biodistribution and expression of GX-12 mRNA in gonadal tissues, and to investigate the histopathological changes after the repeated intramuscular injection. GX-12 (400 $\mu\textrm{g}$/head) was injected into the left anterior tibialis once a week for four weeks. On day 1, 5, 15, 30 and 45 after the final administration, gonadal tissues (testes, epididymis, seminal vesicles, penis, prostate glands, ovaries, vagina, uterus) and the injection site (muscle) were harvested and examined for the expression of mRNA by RT-PCR. In addition, histopathological examination was peformed at each time point. At the injection site, mRNA expression of GX-12 was detected only at early time points (1 ~ 15 days after injection) but not thereafter. However, in gonadal tissues, mRNA expression was not identified at all time points both in male and female rats. There were no histopathological changes in all reproductive organs and muscle. Based on these results, it is unlikely that the plasmid DNAs of GX-12 was distributed to- and expressed in gonadal tissues, suggesting that the chance of germline integration and transmission is negligible.