• Journal of Genetic Medicine
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• 제20권1호
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• pp.25-29
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• 2023

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother. Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

• Genes and Genomics
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• 제40권11호
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• pp.1181-1197
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• 2018

Tropical plant rubber tree (Hevea brasiliensis) is the sole source of commercial natural rubber and low-temperature stress is the most important limiting factor for its cultivation. To characterize the gene expression profiles of H. brasiliensis under the cold stress and discover the key cold stress-induced genes. Three cDNA libraries, CT (control), LT2 (cold treatment at $4^{\circ}C$ for 2 h) and LT24 (cold treatment at $4^{\circ}C$ for 24 h) were constructed for RNA sequencing (RNA-Seq) and gene expression profiling. Quantitative real time PCR (qRT-PCR) was conducted to validate the RNA-Seq and gene differentially expression results. A total of 1457 and 2328 differentially expressed genes (DEGs) in LT2 and LT24 compared with CT were respectively detected. Most significantly enriched KEGG pathways included flavonoid biosynthesis, phenylpropanoid biosynthesis, plant hormone signal transduction, cutin, suberine and wax biosynthesis, Pentose and glucuronate interconversions, phenylalanine metabolism and starch and sucrose metabolism. A total of 239 transcription factors (TFs) were differentially expressed following 2 h or/and 24 h of cold treatment. Cold-response transcription factor families included ARR-B, B3, BES1, bHLH, C2H, CO-like, Dof, ERF, FAR1, G2-like, GRAS, GRF, HD-ZIP, HSF, LBD, MIKC-MADS, M-type MADS, MYB, MYB-related, NAC, RAV, SRS, TALE, TCP, Trihelix, WOX, WRKY, YABBY and ZF-HD. The genome-wide transcriptional response of rubber tree to the cold treatments were determined and a large number of DEGs were characterized including 239 transcription factors, providing important clues for further elucidation of the mechanisms of cold stress responses in rubber tree.

• Journal of Microbiology and Biotechnology
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• 제20권9호
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• pp.1259-1265
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• 2010

The filamentous cyanobacterium Arthrospira platensis strain MMG-9 was isolated from a rice field. The ability of this strain to synthesize the bioactive compound indole-3-acetic acid (IAA) was demonstrated. IAA was extracted from the culture of A. platensis strain MMG-9 and its identity was confirmed by thin-layer chromatography (TLC) as well as by high-performance liquid chromatography (HPLC). The IAA precursor L-tryptophan was required for IAA biosynthesis. Released IAA increased with the increase of the initial concentration of L-tryptophan in the medium and with the incubation time. A. platensis strain MMG-9 accumulated more IAA than it released into the medium. The bioactivity of the secreted IAA was shown by its effect on the formation of roots by Pisum sativum. There was a significant positive effect of the supernatant of cultures of A. platensis strain MMG-9 on the number of lateral roots of P. sativum, whereas a negative effect on root length was observed.

• 생명과학회지
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• 제11권5호
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• pp.415-422
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• 2001

Many secreted proteins have disulfide bonds that are important for their structure and function. Protein disulfide isomerase (PDI, EC 5.3.1.4.), an enzyme that catalyzes the formation and rearrangement of thiol/disulfide exchange reactions, is a resident of the endoplasmic reticulum (ER). The subcellular localization and its function as catalyst of disulfide bond formation in the biosynthesis of secretory and cell membrane proteins suggest that PDI plays a key role in the secretory pathway. We have isolated a cDNA encoding protein disulfide isomerase from Bombyx mori(bPDI). It has been characterized under ER stress conditions (dominantly induced by calcium ionophore A23187, tunicamycin and DTT), which is known to cause an accumulation of unfolded proteins in the ER. Furthermore, It has also been examined for tissue distribution(pronounced at the fat body), hormonal regulation (juvenile hormone, insulin and juvenile +transferrin; however, it is not effected by transferrin alone), and the effect of exogenous bacteria (peak at 16 h after infection) on the bPDI mRNA expression. The results suggest that bPDI is a member of the ER stress protein group, and it may play an important role in exogenous bacterial infection in fat body, and that homones regulate its expression.

• 약학회지
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• 제56권4호
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• pp.254-259
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• 2012

To further access honeybee (Apis mellifera L.) venom (BV) as a cosmetic ingredient and potential external treatment for topical use, we investigated its ability to inhibit tyrosinase activity and melanin biosynthesis on melanogenesis in B16F1 melanoma cells. We found that BV increased the cell viability in B16F1 melanoma cell and BV (0.01~1 ${\mu}g/ml$) inhibited melanin synthesis in with 10 nM ${\alpha}$-melanocyte-stimulating hormone (${\alpha}$-MSH) for 48 h. In addition, we used reverse transcription-polymerase chain reaction and western blotting for me melanogenesis-related genes such as tyrosinase to examine the mechanisms underlying the inhibitory effects of BV on melanogensis. BV inhibited direct tyrosinase activity, which decreased melanin synthesis in ${\alpha}$-MSH stimulated B16F1 melanoma cells. Thease findings suggest that BV induces the downregulation of melanogenesis by inhibiting tyrosinase activation.

• Nuclear Engineering and Technology
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• 제2권2호
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• pp.73-84
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• 1970

Solanum andigena의 괴경생성형상과 스테톨의 관계를 구명하기 위하여 방사성 매바론산을 이용하여 대사를 연구하였다. 괴경생성에 단일광조성수도를 요하는 단일식물과 괴경을 생성치 않는 장일식물을 접목 시켰을때 장일식물이 괴경생성 홀몬을 받아 괴경을 생성하는 현상을 스테로이드와 결부시켜 구명할려고한것이다. 이 연구에서 각종 방사성 스테톨이 특수장치한 까스 크로마토 그라피로서 분리 측정되었다. 여기서 분리된 각종 스테톨이 직정 괴경생성홀몬이라는 근거는 찾을 수 없으며, 이들이 괴경의 포대성장에 필요한 인자로서 관여하고 있는 것으로 논의되었다.

• Biomolecules & Therapeutics
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• 제29권1호
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• pp.98-103
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• 2021

The demand for natural substances with anti-melanogenic activity is increasing due to the recent interest in skin whitening. Intensive investigation on the culture broth of Streptomyces sp. SCO-736, a marine bacterium from the Antarctica coast, has led to the isolation of a new natural product named antaroide (1). The chemical structure was established through the interpretation of MS, UV, and NMR spectroscopic data. Antaroide is a nine-membered macrolide with lactone and lactam moieties. To investigate its applicability in skin whitening cosmetics, its anti-melanogenic activity in B16F10 murine melanoma cells was examined. As a result, antaroide displayed strong inhibitory activities against melanin synthesis and also attenuated the dendrite formation induced by the α-melanocyte stimulating hormone (α-MSH). Antaroide suppressed the mRNA expression of the melanogenic enzymes such as tyrosinase, TRP-1 and TRP-2. This suggests that it may serve as a transcriptional regulator of melanogenesis. Collectively, the discovery of this novel natural nine-membered macrolide and its anti-melanogenic activity could give new insights for the development of skin whitening agents.

• The Korean Journal of Physiology and Pharmacology
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• 제26권2호
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• pp.113-123
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• 2022

Diarylpropionitrile (DPN), a selective agonist for estrogen receptor β (ERβ), has been reported to regulate various hormonal responses through activation of ERβ in tissues including the mammary gland and brain. However, the effect of DPN on melanogenesis independent of ERβ has not been studied. The aim of this study is to examine the possibility of anti-melanogenic effect of DPN and its underlying mechanism. Melanin contents and cellular tyrosinase activity assay indicated that DPN inhibited melanin biosynthesis in alpha-melanocyte stimulating hormone-stimulated B16F10 melanoma cell line. However, DPN had no direct influence on in vitro tyrosinase catalytic activity. On the other hand, 17β-estradiol had no effect on inhibition of melanogenesis, suggesting that the DPN-mediated suppression of melanin production was not related with estrogen signaling pathway. Immunoblotting analysis showed that DPN down-regulated the expression of microphthalmia-associated transcription factor (MITF), a central transcription factor of melanogenesis and its down-stream genes including tyrosinase, tyrosinase-related protein (TRP)-1, and TRP-2. Also, DPN attenuated the phosphorylation of protein kinase A (PKA) and cAMP-response element-binding protein (CREB). Additionally, DPN suppressed the melanin synthesis in UVB-irradiated HaCaT conditioned media culture system suggesting that DPN has potential as an anti-melanogenic activity in physiological conditions. Collectively, our data show that DPN inhibits melanogenesis via downregulation of PKA/CREB/MITF signaling pathway.

• 한국동물학회지
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• 제16권1호
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• pp.25-41
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• 1973

昆蟲의 알라타體의 호르몬 生産과 그 構造的變化를 밝히기 위하여 松蟲을 對象으로 變態 各時期의 알라타腺細胞의 微細構造의 變化를 電子顯微鏡으로 追究했다. 미토콘드리아는 越冬에서 最終齡幼蟲까지와 용화 直後에서 20日용 까지는 活動相을 보이는 反面 營繭期부터 용화 直前의 전용까지는 不活性相을 보인다. 알라타體의 변두리 細胞는 幼蟲期 특히 越冬幼蟲에서는 滑成小胞體의 液胞속에 電子密度가 높은 顆粒을 가졌고 管狀粗性小胞體의 一端이 膨張하여 굵은 滑性小胞體의 液胞로 되며 그中 얼마는 纖維性蛋白質을 含有한다. 한편 두 細胞사이의 空腔에도 液胞가 나타나는데 그들은 서로 融合하여 커지지만 이들 兩者는 용화 直前에 없어진다. 그러나 용화후 細胞質內液胞는 다시 나타나므로 分泌活動은 再開된다고 생각된다. 알라타體에 와있는 軸索속에 神經分泌顆粒이 羽化直前인 20日용부터 5日되는 成蟲까지에서만 나타난다는 事實은 알라타體의 分泌가 이 時期에는 腦의 支配下에 있음을 알려주고 幼蟲期부터 早期용까지는 그런 顆粒이 나타나지 않으므로 그 分泌가 腦와는 아무런 關係가 없음을 意味한다. 3日 되는 成蟲에서 電子密度가 높은 顆粒이 細胞質속 核부근의 큰 液胞속에 나타나고 그 液胞는 數와 크기가 增加하므로 核은 5日成蟲에서 畏縮한다. 이것은 아마 腺細胞의 機能退化相일 것으로 생각된다. 따라서 알라타體는 호르몬 生産과 그 分泌機構에서 볼 때 年齡에 따라 적어도 두가지 호르몬 卽最終齡幼蟲까지 腦의 直接的刺戟없이 幼若호르몬을, 그다음 늦은 용기부터 成蟲까지 腦의 刺戟을 받아서 生殖腺刺戟호르몬을 分泌한다고 보며8 老熟幼蟲에서 전용까지에 觀察되는 分泌相은 아마 ecdysone에 의한 蛋白質合成과 관계가 있을 것이고 또 腦의 支配下에 있지 않는 早期용 에서의 分泌相은 前胸腺刺戟活動과 관계있을 것으로 생각된다.

• Journal of Plant Biotechnology
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• 제38권1호
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• pp.22-29
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• 2011

비생물학적 스트레스로 $H_2O_2$를 이용하여 산화적 스트레스와 고염분 스트레스를 처리한 후 ROS의 생성을 확인한 결과 스트레스 처리 후 30분에 일시적으로 1차 peak를 형성하였다가 거의 basal level까지 감소하고 다시 증가하여 3시간에 매우 다량의 2차 peak를 형성한 후 거의 basal level로 다시 낮아지는 biphasic 양상을 나타내게 된다. 따라서 ROS의 생성은 초기 30분 내에 일시적으로 발생한 Phase I의 ROS와 Phase II의 좀 더 장기적으로 다량의 고농도로 발생된 ROS의 생리적 역할이 다를 것으로 여겨진다. 본 논문에서는 스트레스 처리 시 생성되는 ROS를 확인한 후 ROS 생성 유전자인 RbohD와 RbohF 유전자 발현이 억제된 RbohD-AS, RbohF-AS 형질전환 식물체를 이용하여 실험을 수행하였다. 스트레스에 의해 생성되는 ROS의 생성을 억제시킴으로써 스트레스에 대한 ethylene 생성이 더 적은 것으로 나타났다. 또한, 이들 형질전환 식물체에서 ethylene 생성과 $H_2O_2$ 억제 효과를 확인하였으며 고염분 등의 스트레스에 대한 저항성은 ROS와 ethylene의 생성이 저하되어 나타난 것으로 판단된다. 산화적 스트레스와 고염분 스트레스에서 후기 ethylene이 다량으로 생성되는 시기, 즉 세포손상이 초래되는 후기에서 DNA fragmentation 분석을 통해서 ROS와 ethylene의 생성이 높은 식물체일수록 PCD가 높게 나타난 것으로 여겨지며, 이 과정에서 작용하는 유전자는 RbohD와 RbohF인 것으로 보이며, RbohD가 더 효과적으로 작용하는 것으로 생각된다. 따라서 스트레스에 반응하는 신호전달과정에서 초기에 ROS가 생성이 되고 후기에 ethylene이 다량으로 생성되어 결국 세포죽음에 이르게 하는 상호 synergism을 일으켜 반응을 나타내며, 이러한 반응 과정에서 RbohD와 RbohF 유전자 발현의 억제가 스트레스에 대한 식물체의 저항성을 높이는 것으로 사료된다.