• Title/Summary/Keyword: Phenotype

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Review: Distribution, Lactose Malabsorption, and Alleviation Strategies of Lactose Intolerance (유당불내증(Lactose Intolerance)의 발생 원인과 경감 방안에 대한 고찰)

  • Yoon, Sung-Sik
    • Journal of Dairy Science and Biotechnology
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    • v.27 no.2
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    • pp.55-62
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    • 2009
  • Milk is called an almost complete food in terms of nutrition, especially for the younger generations because it contains a number of nutrients required for growth and development. Lactose intolerance is defined as a malabsorption of lactose in the intestine with some typical symptoms of abdominal pains and bloating, and occurred at 75% of global populations, which hampers milk consumption worldwide. Lacks of milk consumption in the underdeveloped countries frequently lead to many nutrients deficiencies, so that diseases including osteoporosis, hypertension, and colon cancer are more prevalent in the recent days. Lactose in foods needs to be hydrolyzed prior to intestinal absorption. The hydrolytic enzyme responsible for splitting lactose into its monomeric forms, glucose and galactose, is called as lactase or $\beta$-galactosidase. The former is primarily used as blood sugar and energy source and the latter used in glycolipid synthesis of brain tissues in infants. Lactose is clinically diagnosed with the breath hydrogen production test as well as intestinal biopsy. Reportedly, symptoms of lactose intolerance are widely prevalent at 25% of Europeans, 50 to 80% of Hispanics, South Indians, Africans, and Jews, almost 100% of Asians and native Americans. For the adults, phenotype of lactase persistence, which is able to hydrolyse lactose, is more common in the northern Europeans, but in the other area lactase non-persistence or adult-type hypolactasia is dominant. Genetic analysis on human lactase gene continued that lactase persistence was closely related to the err site of 1390 single nucleotide polymorphism from the 5'-end. To alleviate severity of lactose intolerance symptoms, some eating patterns including drinking milk a single cup or less, consumption along with other foods, whole milk rather than skimmed milk, and drink with live yogurt cultures, are highly recommended for the lactose maldigesters. Also, delay of gastric emptying is effective to avoid the symptoms from lactose intolerance. Frequency of lactose intolerance with conventional diagnosis is thought overestimated mainly because the subjects are exposed to too much lactose of 50 g rather than a single serving amount. Thus simple and accurate diagnostic method for lactose intolerance need to be established. It is thought that fermented milk products and low- or free lactose milks help improve currently stagnant milk consumption due to lactose intolerance which contributes to major barrier in milk marketing especially in Asian countries.

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QUANTITATIVE ANALYSIS OF TRANSFORMING GROWTH $FACTOR-{\beta}_1$ IN HUMAN FIBROBLASTS INDUCED WITH STAPHYLOCOCCUS ENTEROTOXIN B AND LIPOPOLYSACCHARIDE (Staphylococcus enterotoxin B와 lipopolysaccharide를 작용시킨 사람 섬유아 세포에서 생성된 Transforming Growth $Factor-{\beta}_1$의 정량적 분석)

  • Lee, Seong-Geun;Kim, Kwang-Hyuk;Kim, Uk-Kyu;Kim, Jong-Ryoul;Chung, In-Kyo;Yang, Dong-Kyu
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.22 no.2
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    • pp.123-132
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    • 2000
  • $TGF-{\beta}_1$ is a potent chemotactic factor for inflammatory cells and fibroblasts. It also stimulates the celluar source and components of extracellular matrix and the production of proteinase inhibitors. Collectively, these biologic activities lead to the accumulation and stabilization of the nascent matrix, which is vital to infection control. The objective of this study is to investigate production of $TGF-{\beta}$ in vitro fibroblast culture in the presence of Staphylococcus enterotoxin B(SEB) and/or lipopolysaccharide(LPS) and to elucidate the role of $TGF-{\beta}_1$ which may be responsible for infection control. The fibroblasts were originated from gingiva and facial dermis in 26 year-old male patient. In the presence of LPS($0.01{\mu}g$, $0.1{\mu}g$, $1.0{\mu}g$), SEB($0.01{\mu}g$, $0.l{\mu}g$, $1.0{\mu}g$) respectively, $cells(5{\times}10^3ml)$ were cultivated in vitro. At 1, 3, and 5 days after incubation, cells were counted. Also, $cells(2.5{\times}10^5ml)$ were cultivated in EMEM with LPS(0.01, 0.1 and $1.0{\mu}g$), SEB(0.01, 0.1 and $1.0{\mu}g$) respectively and $LPS(0.1{\mu}g)$ and $SEB(0.1{\mu}g)$ in combination for 24, 48, and 72 hours respectively. Culture supernatants were harvested at 1, 2, and 3 days after incubation period and triplicate culture supernatants were pooled and $TGF-{\beta}_1$ was assayed in duplicate. The results were as follows. 1. In gingival fibroblast induced with SEB and LPS respectively or in combination, the suppression of cell Proliferation occurred very significantly since 3 days after incubation, compared with the control and the production of $TGF-{\beta}_1$ occurred very significantly at 1 day after incubation, compared with the control. 2. In facial dermal fibroblast induced with SEB and LPS respectively or in combination, the suppression of cell proliferation occurred very significantly at 1 day after incubation, compared with the control. In SEB exposure, the production of $TGF-{\beta}_1$ was decreased very significantly at 1 day after incubation, compared with the control. However, in LPS, SEB and LPS exposure, the production of $TGF-{\beta}_1$ was increased very significantly at 1 day after incubation, compared with the control. In conclusion, the concentration of bacterial toxins and the incubation period correlated with cell proliferation and production of $TGF-{\beta}_1$ very significantly. The gingival and facial dermal fibroblasts have different phenotype each other The orchestrated understanding of fibroblast proliferation and $TGF-{\beta}_1$ production play an important part in host defense against the bacterial Infection and may prevent tissue necrosis such as necrotizing fasciitis and life-threatening syndrome such as multiple organ failure.

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Telomerase Activity in Primary Lung Cancers (원발성 폐암에 있어서 Telomerase 활성도에 대한 연구)

  • Yun, Sang-Myung;Kwak, Kyung-Rok;Hwang, Jee-Yoon;Park, Sam-Seok;Jeon, Doo-Soo;Kim, Cheol-Min;Lee, Min-Ki;Park, Soon-Kew
    • Tuberculosis and Respiratory Diseases
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    • v.46 no.2
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    • pp.195-203
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    • 1999
  • Background: Telomerase enzyme activity is not detected in most normal cells, a phonomenon believed to be associated with limitations on cellular proliferation. Since this activity is detected in nearly all human tumor, including lung cancers, it has been suggested that telomerase activation may be coupled to acquisition of malignant phenotype. In this study, we determined whether telomerase activity was associated with tumor pathologic stage. Methods: Primary tumor specimens obtained by bronchoscopic biopsies from 33 patients were analyzed. Telomerase activity was measured by means of a modified Telomeric Repeat Amplication Protocol(TRAP) assay. Results: Telomerase activity was detected in 23 of the 27 non-small-cell lung cancer and 5 of 6 small-cell lung cancer. A few primary tumors did not appear to have detectable telomerase activity. Positive associations were found between the telomerase-positive rate and tumor stage(p<0.05). Conclusion: High telomerase activity is detected frequently in primary lung cancers that exhibit high tumor cell proliferation rates and advanced pathologic stage.

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Apolipoprotein A1 Inhibits TGF-β1-Induced Epithelial-to-Mesenchymal Transition of Alveolar Epithelial Cells

  • Baek, Ae Rin;Lee, Ji Min;Seo, Hyun Jung;Park, Jong Sook;Lee, June Hyuk;Park, Sung Woo;Jang, An Soo;Kim, Do Jin;Koh, Eun Suk;Uh, Soo Taek;Kim, Yong Hoon;Park, Choon Sik
    • Tuberculosis and Respiratory Diseases
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    • v.79 no.3
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    • pp.143-152
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    • 2016
  • Background: Idiopathic pulmonary fibrosis (IPF) is a progressive and lethal lung disease characterized by the accumulation of excessive fibroblasts and myofibroblasts in the extracellular matrix. The transforming growth factor ${\beta}1$ (TGF-${\beta}1$)-induced epithelial-to-mesenchymal transition (EMT) is thought to be a possible source of fibroblasts/myofibroblasts in IPF lungs. We have previously reported that apolipoprotein A1 (ApoA1) has anti-fibrotic activity in experimental lung fibrosis. In this study, we determine whether ApoA1 modulates TGF-${\beta}1$-induced EMT in experimental lung fibrosis and clarify its mechanism of action. Methods: The A549 alveolar epithelial cell line was treated with TGF-${\beta}1$ with or without ApoA1. Morphological changes and expression of EMT-related markers, including E-cadherin, N-cadherin, and ${\alpha}$-smooth muscle actin were evaluated. Expressions of Smad and non-Smad mediators and TGF-${\beta}1$ receptor type 1 ($T{\beta}RI$) and type 2 ($T{\beta}RII$) were measured. The silica-induced lung fibrosis model was established using ApoA1 overexpressing transgenic mice. Results: TGF-${\beta}1$-treated A549 cells were changed to the mesenchymal morphology with less E-cadherin and more N-cadherin expression. The addition of ApoA1 inhibited the TGF-${\beta}1$-induced change of the EMT phenotype. ApoA1 inhibited the TGF-${\beta}1$-induced increase in the phosphorylation of Smad2 and 3 as well as that of ERK and p38 mitogen-activated protein kinase mediators. In addition, ApoA1 reduced the TGF-${\beta}1$-induced increase in $T{\beta}RI$ and $T{\beta}RII$ expression. In a mouse model of silica-induced lung fibrosis, ApoA1 overexpression reduced the silica-mediated effects, which were increased N-cadherin and decreased E-cadherin expression in the alveolar epithelium. Conclusion: Our data demonstrate that ApoA1 inhibits TGF-${\beta}1$-induced EMT in experimental lung fibrosis.

Pericentric Inversion of the X Chromosome in a Male with Azoospermia and in the Family of a Pregnant Female Carrier (무정자증을 보이는 남성과 정상 생식력을 가진 여성의 가계에서 관찰된 X 염색체의 Pericentric Inversion)

  • Lee, Bom-Yi;Ryu, Hyun-Mee;Lee, Moon-Hee;Park, Ju-Yeon;Kim, Jin-Woo;Lee, Joong-Shik;Kim, Hye-Ok;Kim, Min-Hyung;Park, So-Yeon
    • Journal of Genetic Medicine
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    • v.5 no.2
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    • pp.139-144
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    • 2008
  • We report on two cases of pericentric inversion of X chromosome. The cases were found in a 40-year-old man with azoospermia and in a family of a 38-year-old pregnant woman. The first case with 46,Y,inv(X)(p22.1q27) had concentrations of LH, prolactin, estradiol, and testosterone that were within normal ranges; however, FSH levels were elevated. Testis biopsy revealed maturation arrest at the primary and secondary spermatocytes without spermatozoa. There were no microdeletions in the 6 loci of chromosome Y. For the second case, the cytogenetic study of thepregnant woman referring for advanced maternal age and a family history of inversion X chromosome was 46,X,inv(X)(p22.11q27.2). The karyotype of her fetus was 46,X,inv(X)(p22.1q27). Among other family members, the karyotypes of an older sister in pregnancy and her fetus were 46,X,inv(X)(p22.11q27.2), and 46,Y,?inv(X), respectively. The proband's father was 46,Y,inv(X)(p22.11q27.2). All carriers in the family discussed above were fertile and phenotypically normal. In addition, the ratio of inactivation of inv(X) by RBG-banding was discordant between the two sisters, with the older sister having only 4.1% of cells carrying inactivated inv(X) while the proband had a 69.5% incidence of late replicating inv(X). Therefore, we suggest that the cause of azoospermia in the first case might be related to inversion X chromosome with positional effect. Also, the family of the second case showing normal phenotype of the balanced inv(X) might be not affected any positional effect of genes.

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Physiological and molecular characterization of two inbred radish lines with different bolting times (추대시기가 서로 다른 무 계통간 생리학적, 분자생물학적 개화 특성 규명)

  • Park, Hyun Ji;Jung, Won Yong;Lee, Sang Sook;Lee, Joo won;Kim, Youn-Sung;Cho, Hye Sun
    • Journal of Plant Biotechnology
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    • v.42 no.3
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    • pp.215-222
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    • 2015
  • The radish (Raphanus sativus L.) is an important Brassicaceae root vegetable crop worldwide. Several studies have been conducted concerning radish breeding. There are major challenges to prevent premature bolting in spring plantings. Here, we performed the characterization of two inbred radish lines which vary in bolting time. "Late bolting radish" (NH-JS1) and "early bolting radish" (NH-JS2) were generated by a conventional breeding approach. The two inbred lines showed different bolting phenotypes depending on vernalization time at $4^{\circ}C$. NH-JS1, the late bolting radish, was less sensitive to cold treatment and the less sensitivity was inversely proportional to the duration of the vernalization. We also measured gene expression levels of the major bolting time related genes in the NH-JS1 and NH-JS2 lines. RsFLC1 plays a central role in the timing of flowering initiation. It is a strong repressor and it's transcript is highly expressed in NH-JS1 compared to NH-JS2 under no treatment and vernalization conditions. RsFRI, a positive regulator of RsFLC, is also highly expressed in NH-JS1 compared to NH-JS2 regardless of vernalization. In contrast, RsSOC1, suppressed by FLC as a floral integrator gene, showed the most difference, a 5-fold increase, between NH-JS1 and NH-JS2 under vernalization conditions. From these results, we conclude that NH-JS1 showed a late flowering phenotype after cold treatment due to the expression differences of flowering time regulator genes rather than difference sensitivity to cold. These results may be useful to understand the control mechanisms of flowering time and may help identify molecular markers for selecting late bolting trait in radish.

Iron fortification of grains by introducing a recombinant gene of ferritin with seed promoters in rice (종자 특이 프로모터와 대두 Ferritin 유전자에 의한 벼 종실의 철분강화)

  • Cho, Yong-Gu;Kim, Hyung-Keun;Choi, Jang-Sun;Jung, Yu-Jin;Kang, Kwon-Kyoo
    • Journal of Plant Biotechnology
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    • v.36 no.1
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    • pp.87-95
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    • 2009
  • The recombinant DNAs, pGBF, pGTF, and pZ4F, using soybean ferritin gene have constructed with the promoters derived from seed proteins, glutelin, globulin, and zein. The recombinant ferritin genes were transformed into rice plant by Agrobacterium-mediated transformation. Iron contents and agronomic traits have been evaluated in the transgenic progenies. The embryogenic calli survived from second selection medium were regenerated at the rates of 19.2% with pGBF, 15.0% with pGTF, and 18.4% with pZ4F in Donganbyeo and 6.7% with pGBF, 11.7% with pGTF, and 3.4% with pZ4F in Hwashinbyeo. The introduction of ferritin gene in putative transgenic rice plants was confirmed by PCR and Southern blot analysis and also the expression of ferritin gene was identified by Northern blot and Western blot analysis. The iron accumulation in transgenic rice grains of the transgenic rice plant, T1-2, with zein promoter and ferritin gene contained 171.4 ppm showing 6.4 times higher than 26.7 ppm of Hwashinbyeo seed as wild type rice, but the transgenic plants with globulin and glutelin showed a bit higher iron contents with a range from 2.1 to 3.0 times compare to wild type grain. The growth responses of transgenic plants showed the large variances in plant height and number of tillers. However, there were some transgenic plants having similar phenotype to wild type plants. In the T1 generation of transgenic plants, plant height, culm length, panicle length, and number of tillers were similar to those of wild type plants, but ripened grain ratio ranged from 53.3% to 82.2% with relatively high variation. The transgenic rice plants would be useful for developing rice varieties with high iron content in rice grains.

Genetic Analysis of Complementary Gene Interactions of Pb and Pp Genes for the Purple Pericarp Trait in Rice (흑미의 자색종자과피(Purple pericarp) 형질을 결정하는 상보적 유전자 Pb와 Pp 유전자들의 상호관계 분석)

  • Lee, Kyung Eun;Rahman, Md Mominur;Kim, Jong Bae;Kang, Sang Gu
    • Journal of Life Science
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    • v.28 no.4
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    • pp.398-407
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    • 2018
  • The Purple pericarp (Prp) trait is a trait often bred for in black rice. Generally, the Prp trait is displayed in the color variations of seeds following the 9:3:4 purple, brown, and white ratio, respectively. The Prp trait is a recessive epistasis of two gene interactions; however, it is caused by the two complementation genes Pb and Pp. Here we present a study of the genetic characteristics of the Prp trait using an $F_1$ hybrid with a Pbpb Pppp genotype. This hybrid generated four seed colors with the following numbers: 3 dark purple, 6 medium purple, 3 brown, and 4 white (or 9 purple, 3 brown, and 4 white). However, further biochemical analysis of the all progenies divided them into two groups. One group had the Pb_ Pp_ allelic constitutions and contained cyanidin 3-O-glucoside (C3G) in both the dark purple or medium purple seeds. The other group, however, was absent of C3G in both the brown and white seeds, resulting in a ratio of 9:7, respectively. This segregation revealed the extended Mendelian 9:7 ratios of the complementary gene interactions with a good fitness in ${\chi}^2$ analysis. Further analysis revealed that brown seeds with the Pb_ pppp genotype corresponded with a null C3G, indicating that the Brown pericarp trait in rice is caused by a dominant allele of the Pb gene. Therefore, we conclude that the production of C3G is a main phenotype of the black and purple colored rice in the Prp trait, and it is governed by the complementary gene interactions between Pb and Pp genes.

Artificial Mutation for Silkworm Molecular Breeding Using Gene Scissors (유전자 가위의 이용과 누에 분자 육종을 위한 인위적 돌연변이 유발)

  • Hong, Jeong Won;Jeong, Chan Young;Yu, Jeong Hee;Kim, Su-Bae;Kang, Sang Kuk;Kim, Seong-Wan;Kim, Nam-Suk;Kim, Kee Young;Park, Jong Woo
    • Journal of Life Science
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    • v.30 no.8
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    • pp.701-707
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    • 2020
  • Gene editing technology using the clustered regularly interspaced short palindromic repeat (CRISPR) and the CRISPR associated protein (Cas)9 has been highly anticipated in developing breeding techniques. In this study, we discuss gene scissors as a tool for silkworm molecular breeding through analysis of Bombyx mori Kynurenine 3-Monooxygenase (BmKMO) gene editing using the CRISPR/Cas9 system and analysis of generational transmission through mutagenesis and selective crossing. The nucleotide sequence of the BmKMO gene was analyzed, and three guide RNAs (gRNAs) were prepared. Each synthesized gRNA was combined with Cas9 protein and then analyzed by T7 endonuclease I after introduction into the BM-N silkworm cell line. To edit the silkworm gene, K1P gRNA and Cas9 complexes were subsequently microinjected into the silkworm embryos; the hatching rate was 18% and the incidence of mutation was 60%. The gene mutation was verified in the heterozygous G0 generation, but no phenotypic change was observed. In homozygotes generated by self-crossing, a mutant phenotype was observed. These results suggest that silkworm molecular breeding using the CRISPR/Cas9 system is possible and could be an effective way of shortening the time required.

Membrane Protein Alterations Associated with Anticancer Drug Resistance in Mouse Lymphoblastic Leukemia L1210 Cells (항암제에 내성인 생쥐의 백혈병세포 L1210의 세포막 단백질의 변환)

  • Kim, Seong-Yong;Son, Sung-Kweon;Kim, Jae-Ryong;Kim, Jung-Hye
    • Journal of Yeungnam Medical Science
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    • v.10 no.2
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    • pp.432-444
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    • 1993
  • Multidrug resistance(MDR) phenotype is frequently observed in animal and human cancer cell lines selected for in vitro resistance to a single chemotherapeutic agent. It is characterized by the diminished drug accumulation and is related to the drug efflux mechanism in resistant cells. In the present study, adriamycin resistant cells(L1210-$AdR_6$ : $10^{-6}M$ adriamycin, $-AdR_5$ : $10^{-5}M$) and vincristine resistant cells (L1210-$VcR_7$ : $10^{-7}M$ vincristine, $-VcR_6$ : $10^{-6}M$) were produced from mouse lymphoblastic leukemia cell line L1210. Growth profiles of survived cells were observed for 5 days with MTT(thiazolyl blue) assay and resistance was compared with $IC_{50}$(drug concentration of 50% survival reduction in absorbance). Resistant cells proliferated more slowly than sensitive cell. Doubling times were 29.7hr in L1210, 68.7hr in L1210-$AdR_5$ and 58.2hr in $-VcR_6$. MDRs expressed as resistance factor were as follows, L1210-$AdR_5$ was 76.4 times for vincristine, L1210-$VcR_6$ was 96.4 times for adriamycin. The cell membrane proteins with three different M.W. were recognized to be related resistance, 220, 158, and 88 kd in L1210-$AdR_5$, 158, 140 and 88 kd in L1210-$VcR_6$ by SDS-PAG electrophoresis. Cell surface membrane proteins were identified by radio-iodination and autoradiogram, their molecular weights were 158, 72.8, and 42.4 Kd in L1210-$VcR_6$.

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