• Title/Summary/Keyword: hormone biosynthesis

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Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidechain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl

  • Ye Ji Kim;Sun Cho;Hwa Young Kim;Young Hwa Jung;Jung Min Ko;Chang Won Choi;Jaehyun Kim
    • Journal of Genetic Medicine
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    • v.20 no.1
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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.

Transcriptome profiling of rubber tree (Hevea brasiliensis) discovers candidate regulators of the cold stress response

  • Gong, Xiao-Xiao;Yan, Bing-Yu;Hu, Jin;Yang, Cui-Ping;Li, Yi-Jian;Liu, Jin-Ping;Liao, Wen-Bin
    • Genes and Genomics
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    • v.40 no.11
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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.

Production of Indole-3-Acetic Acid by the Cyanobacterium Arthrospira platensis Strain MMG-9

  • Ahmed, Mehboob;Stal, Lucas J.;Hasnain, Shahida
    • Journal of Microbiology and Biotechnology
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    • v.20 no.9
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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.

Molecular Characterization of a Bombyx mori Protein Disulfide Isomerase(bPDI) (누에 배양세포로부터 분리한 Protein Disulfide Isomerase 유전자의 발현 특성)

  • 구태원;윤은영;황재삼;강석우;권오유
    • Journal of Life Science
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    • v.11 no.5
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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.

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Inhibitory Effects of Purified Bee Venom on Melanin Synthesis (정제봉독의 멜라닌 생성 억제 효과)

  • Han, Sang-Mi;Kim, Jung-Min;Lee, Kyung-Gill;Park, Kwan-Kyu;Chang, Young-Chae
    • YAKHAK HOEJI
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    • v.56 no.4
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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.

The Metabolism of (2-$^{14}C$) Mevalonic Acid on Photoperiodic Induction in Grafted Solanum Andigena

  • Bae, Moo;Mercer, E.I.
    • Nuclear Engineering and Technology
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    • v.2 no.2
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    • pp.73-84
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    • 1970
  • The metabolism of sterol precurosor in leaves of Salanum andigena grafted between photoinduced and noninduced plant was investigated with the use of (2-$^{14}$ C) mevalonic acid. By the technique of the preparative gas-liquid chromatography, radioactive compounds of squalene, 4,4’-dimethylsterols and 4-demethylsterol were isolated and determined quantitatively. When labeled mevalonic acid n as applied to leaves radioactivity was extensively incorporated into non-saponifiable materials of lipid fraction and aqueous fraction (ethanol-water fraction). Radioactivity of 14C derived from (2-$^{14}$ C) mevalonic acid was transmissible from photoinduced plant to non-induced plant across the graft union, as tuberization hormone was, and incorporated into the sterols of the non-induced plant. Inhibitors of sterol biosynthesis, SK & F 7997 and nicotinic acid, are effective suppressors of tuber growing, if applied to leaves during photoinduction period. The experimental results suggest that certain substance containing isoprene unit, or sterol-like compound may participate in tuber growing.

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Antaroide, a Novel Natural Nine-Membered Macrolide, Inhibits Melanin Biosynthesis in B16F10 Murine Melanoma Cells

  • Ryu, Min-Ji;Baek, Eun-Ki;Kim, Soyeon;Seong, Chi Nam;Yang, Inho;Lim, Kyung-Min;Nam, Sang-Jip
    • Biomolecules & Therapeutics
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    • v.29 no.1
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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.

Diarylpropionitrile inhibits melanogenesis via protein kinase A/cAMP-response element-binding protein/microphthalmiaassociated transcription factor signaling pathway in α-MSH-stimulated B16F10 melanoma cells

  • Lee, Hyun Jeong;An, Sungkwan;Bae, Seunghee;Lee, Jae Ho
    • The Korean Journal of Physiology and Pharmacology
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    • v.26 no.2
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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.

Structural Correlates of Hormone Production by the Corpora Allata in the Pine Moth, Dendrolimus spectablis Butler, during Larval-Pupal-Adult Transformations (松蟲變態에 따른 알라타體의 호르몬 生産과 그 構造的變化의 相關)

  • Kim, Chang-Whan
    • The Korean Journal of Zoology
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    • v.16 no.1
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    • pp.25-41
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    • 1973
  • Ultrastructural changes in the cells of the corpora allata of the pine moth, Dendrolimus spectabilis Butler, were studied by electron microscope to know the structural correlates of hormone production by the gland during the larval-pupal-adult transformations. Mitochondria are in active phases from the overwintered to the last instar larvae and from the pupae just after pupation to the 20-day old pupae, while they are in inactive phases from the making cocoon stage to the prepupae just before pupation. The peripheral allatum cells have electron dense granules in the intracellular vacuoles of smooth-surfaced endoplasmic reticulum in the larval life, particularly in the overwintered larvae and in the early adults but the swollen smooth-surfaced intracytoplasmic vacuoles made by expansion of an end of the tubular rough endoplasmic reticulum, some of which contain fibrous proteins, are observed in addition to the vacuoles in the intercellular spaces in which the vacuoles grow by fusing each other from the mature larvae to the prepupae, both of them disappearing during just before pupation. After pupation the cytolasmic vacuoles develop again in the allatum cells so that they seem to begin the secretory activity. The fact that the neurosecretory granules stored within the axons terminated in the corpus allatum are visible only from the 20-day old pupa about two days before abult emergence to the 5-day old adult means that the secretion from the allatum cells is under the control of the brain from the late pupal stage, while the secretion during from the larval to the early pupal life has no relation with the brain, because such granules are not observed within the axons. It is, therefore, suggested that at least two kinds of hormone are released with the ages as far as concerned with the production and secretion mechanisms of the allatum hormone: juvenile hormone is released until the last instar larvae without any direct stimlation of the brain and gonadotropic hormone is secreted from the late pupa to the adult by getting brain's stimulation and that the secretory phases observed from the mature larvae to prepupae are presumably concerned with the biosynthesis of protein owing to the ecdysone and those from the early pupal stage in uncontrolled condition of the brain with the prothoracotropic activity.

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Stress-induced biphasic ethylene and ROS biosynthesis are synergistically interacted in cell damage (스트레스에 의한 식물세포 손상에서 Biphasic Reactive Oxygen Species(ROS)와 Ethylene 생합성의 Synergism 효과)

  • Ji, Na-Ri;Park, Ky-Young
    • Journal of Plant Biotechnology
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    • v.38 no.1
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    • pp.22-29
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    • 2011
  • Although reactive oxygen species (ROS) are inevitable by-products of many redox reactions in eukaryotic cells, they play a crucial role as signaling molecules in many cellular processes for development and defense response to abiotic stresses. The biphasic ROS production which was peaked twice in a first transient phase and a second massive phase was occurred after treatment of abiotic stress such as oxidative stress, high salinity. This biphasic generation of ROS was followed by the biphasic production of stress hormone, ethylene. The mechanism of interactions between ROS and ethylene biosynthesis is studied in tobacco (Nicotiana tabaccum L.) plants under the abiotic stresses. The stress-induced ethylene production was significantly inhibited in RbohD-AS and RbohF-AS, in which antisense expression of NADPH oxidase genes was performed. The accumulation of ROS, which was determined by DAB and DCFH-DA staining, was significantly decreased after abiotic stresses in transgenic plants. The suppression of signaling with ethylene and ROS induced more tolerance in response to abiotic stress. The transgenic plants were more tolerant in MS medium supplemented with salinity stress in contrast with wild-type. Stress-induced cell damage determined by DNA fragmentation was decreased at phase II in those transgenic plants. Therefore, the first burst of ROS is more responsible for making a role as a signaling molecule during stress-induced response. These results suggested that ethylene and ROS act in a positive feedback cycle that results in mutual enhancement of ethylene and ROS production during stress-induced cell death.