• Title/Summary/Keyword: Phenotypes

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Studies on Polymorphism of Transferrin of Serum Proteins in Tilapia (Oreochromis niloticus) (Tilapia(Oreochromis niloticus)의 혈청과 단백질의 transferrin의 다형현상에 관한 연구)

  • Sim Un-Hwa;Yoon Jong-Man;Kim Kye-Yung;Park Hong-Yang
    • Journal of Aquaculture
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    • v.2 no.1
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    • pp.9-20
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    • 1989
  • This study was taken to isolate transferrin fractions from the sera of tilapia(Oreochromis niloticus) by physico-chemical analyses such as the rivanol precipitation, iron-staining method, SDS-polyacrylamide gel electrophoresis and $^{59}FeCl_3$ autoradiography, and to calculate gene frequencies by using Hardy-Weinberg Law. The results obtained in this experiment were summarized as follow : 1. The transferrin fraction is composed of several components possessing relative lower electrophoretic mobilities and higher molecular sizes than the albumin components. 2. When different staining method was compared with transferrin in band, it was not found difference. 3. It was concluded that the optimun ratio of rivanol to serum was 2 : 1 and this ratio was used in all further fractionation. 4. The molecular weight of transferrin component was about 70,000 $\pm$ 2,000. 5. Tilapia transferrin fractionations were found to be polymorphic. 6. There transferrin variants(A, B and C) have been found in tilapia(Oreochromis niloticus) and Tf types were assumed to be controlled by three codominant alleles Tf A, Tf B and Tf C. Six different phenotypes can be theoretically expected Tf AA, Tf AB, Tf AC, Tf BB, Tf BC, and Tf CC. Only five types of these were observed and Tf CC types(homozygotes) was not found. 7. The frequencies of the three allele Tf A, Tf B and Tf C were 0.795, 0.15 and 0.055 respectively.

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Protein Tyrosine Phosphatase N1 Gene Variants Associated with Type 2 Diabetes Mellitus and Its Related Phenotypes in the Korean Population

  • Hong, Kyung-Won;Jin, Hyun-Seok;Lim, Ji-Eun;Ryu, Ha-Jung;Ahn, Youn-Jhin;Lee, Jong-Young;Han, Bok-Ghee;Shin, Hyoung-Doo;Cho, Nam-Han;Shin, Chol;Woo, Jeong-Taek;Park, Hun-Kuk;Oh, Berm-Seok
    • Genomics & Informatics
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    • v.6 no.3
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    • pp.99-109
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    • 2008
  • Protein phosphorylation at tyrosine residues is a key regulatory event that modulates insulin signal transduction. We studied the PTPN1 gene with regard to susceptibility to Korean type 2 diabetes mellitus (T2DM) and its related quantitative traits. A total of seven SNPs [g.36171G>A (rs941798), g.58166G>A (rs3787343), g.58208A>G (rs2909270), g.64840C>T (rs754118), g.69560C>G (rs6020612), g.69866G>A (rs718050), and g.69934T>G (rs3787343)] were selected based on frequency (>0.05), linkage disequilibrium (LD) status, and haplotype tagging status. We studied the seven SNPs in 483 unrelated patients with type 2 diabetes (age: $64{\pm}2.8$ years, onset age: $56{\pm}8.1$ years; 206 men, 277 women) and 1138 nondiabetic control subjects (age: $64{\pm}2.9$; 516 men, 622 women). The SNP rs941798 had protective effects against T2DM with an odds ratio of 0.726 (C.I. $0.541{\sim}0.975$) and p-value=0.034, but none of the remaining six SNPs was associated with T2DM. Also, rs941798 was associated with blood pressure, HDL cholesterol, insulin sensitivity. rs941798 also has been associated with T2DM in previous reports of Caucasian-American and Hispanic-American populations. This is the first report that shows an association between PTPN1 and T2DM in the Korean as well as Asian population.

The Cross Ability and the Phenotypic Characteristics of F1 Hybrid in the Interspecific Crosses between Brassica napus and B. campestris, B. rapa (Brassica 속 식물 내 종간교잡에 따른 교잡효율 및 F1잡종의 표현형질)

  • Kim, Kwang-Soo;Lee, Yong-Hwa;Jang, Young-Seok;Choi, In-Hu
    • Korean Journal of Plant Resources
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    • v.28 no.1
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    • pp.119-125
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    • 2015
  • Interspecific crosses between rapeseed (Brassica napus L.) and chinese cabbage (B. campestris var. pekinensis Makino) and turnip (B. rapa L.) were made in order to examine the cross possibility and morphological phenotype of $F_1$ hybrid. The growth of pollen tube of cross between rapeseed and chinese cabbage was more rapid than cross between rapeseed and turnip. Silique formation and seed setting in silique were relatively high in the cross between rapeseed and chinese cabbage. The percentage of silique set from interspecific cross between rapeseed and chinese cabbage was 90.6% and higher 23.3% than the percentage of silique from interspecific cross rapeseed and turnip. The average number of seed per silique obtained from the cross rapeseed and chinese cabbage, and rapeseed and turnip reached 15.5 and 11.6, respectively. The morphological phenotypes of $F_1$ hybrid plants obtained from seeds in the cross between rapeseed and chinese cabbage resembled rapeseed mainly, but leaf length and leaf width were increased. The size, shape and lobation of leaves of $F_1$ hybrid plants from interspecific cross between rapeseed and turnip were intermediated between their parent species, but color of leaves was dark-green.

TYPE II DENTINOGENESIS IMPERFECTA : CASE REPORT (Type II 상아질형성부전증의 임상 증례)

  • Kim, Chi-Hyun;Lee, Jae-Ho;Choi, Byung-Jai;Lee, Chong-Gap
    • Journal of the korean academy of Pediatric Dentistry
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    • v.28 no.4
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    • pp.654-660
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    • 2001
  • Dentinogenesis imperfecta is an example of an inheritable dentinal defect originating during the histodifferentiation stage of tooth development, with involvement of the primary and permanent teeth. Shields, Bixler and El-Kafrawy proposed three types of Dentinogenesis imperfecta : Type I, II, III. Witkop reported a prevalence of 1 in 8000 with the trait, and no significant difference between male and female. Affected teeth have red-brown discoloration often with distinctive wearness of occlusal surface of posterior teeth and incisal surface of anterior teeth. Once enamel seperated from underlying defective dentin, the dentin demonstrates significantly acclerated attrision. Radiographically, the teeth have thin roots, bulbous crown, cervical constriction, and obliteration of the root canals and pulp chambers. In primary dentition periapical lesions or multiple root fractures are often observed. In successive generations the phenotypes of discoloration and wearness of teeth occurred, and one of the patient's subships, 10 year-old sister, showed general discoloration of her teeth and mild wearness. In this case, a 4 year-old male reported to the Yonsei University Pedodontics clinic, with a chief complaint of discolored teeth. The teeth showed generally yellowish-brown discoloration and moderate wearness. In radiographic features, obliteration of pulp, bulbous crown, and short roots were observed. It was diagnosed as Dentinogenesis imperfecta. The posterior teeth were restored with Stainless Steel Crown, and defective incisors including left upper primary central incisor which was extracted due to a root fracture with Open-faced Stainless Steel crown.

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Myxococcus xanthus socD500 mutation causes Sporulation and Induction of two C-signal Specific Genes (Myxococcus xanthus socD500에 의한 포자 형성 및 CsgA신호에 특이적 유전자의 발현에 관한 연구)

  • 이병욱
    • Journal of Life Science
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    • v.13 no.2
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    • pp.184-190
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    • 2003
  • Myxococcus xanthus is a Gram negative, rod-shaped, soil bacterium that displays a social behaviors, and multicellular development upon nutrient deprivation. The csgA gene encoding a cell surface protein is essential for developmental behaviors including rippling, aggregation, fruiting body formation and sporulation. csgA mutants show normal vegetative growth, but lack all these developmental phenotypes. Expression of the CsgA (C-signal) specific genes are eliminated or dramatically reduced in csgA mutants. In order to identify components of C-signal transduction pathway, second site mutations were introduced into csgA mutants and were identified which can fully or partially restore development of csgA mutants (Rhie, H. G. et. al. 1989. J. Bacteriol. 171, 3268-3276). One of such csgA suppressor mutations, socD500 restores only sporulation to csgA mutants at 15$^{\circ}C$. The socD500 mutaion however eliminates the three basic developmental requirements, starvation, high cell density and a solid surface. Only sporulation, not accompanied with fruiting body formation is induced simply by shifting the temperature of vegetatively growing cells from $32^{\circ}C$ to $15^{\circ}C$. Spores induced by socD500 mutation is not as thick as that of wild-type fruiting body. In socD500 genetic background, two of ten C-signal dependent genes, $\Omega$DK4506 and $\Omega$DK4406 are more highly expressed in growing cells at $15^{\circ}C$. These results indicate that the socD500 mutation may be partly involved in the regulation of expression of two C-signal dependent genes and genes for sporulation in this transduction pathway.

A Potential Demerit of the Pronuclear Microinjection Technique (형질전환 마우스 생산 및 표현형에 pronuclear microinjection 이 미치는 영향 연구)

  • Wang, Ai-Guo;Kim, Sun-Uk;Moon, Hyung-Bae;Hyun, Byung-Hwa;Nam, Ki-Hoan;Suh, Jun-Gyo;Kim, Nam-Soon;Yu, Dae-Yeul;Lee, Dong-Seok
    • Journal of Life Science
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    • v.16 no.4
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    • pp.566-570
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    • 2006
  • Pronuclear microinjection (PMI) is a primary method for producing transgenic mice and offers a powerful tool for investigating gene function in vivo. The method has several reported advantages and disadvantages. Here, we report another potential shortcoming. The survival rate of fertilized one cell-stage embryos was significantly reduced after PMI procedure (65.4% (1202/1838)). In addition, the proportion of embryos developing to full-term was also significantly lower than that of embryos not undergoing PMI (26.5% (319/1202) vs 41.9% (57/136)). Moreover, 3 out of 21 (14.3%) founder control mice which were non-transgene-carrying littermates of transgenic founders showed histopathological changes in their liver, which was comparable to that in of transgenic lineages (4 out of 27 (14.8%)). In conclusion, the mechanical damages in chromosomes occurring during PMI procedure may be a potential factor influencing phenotypes of transgenic mice.

Target Proteins Involved in Aging Mechanism as an Aging Molecular Marker (노화 분자마커로서 노화기전에 관여하는 타켓 단백질)

  • Kim, Moon-Moo
    • Journal of Life Science
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    • v.26 no.8
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    • pp.983-989
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    • 2016
  • All cells composing of our body undergo their destiny such as proliferation, differentiation, necrosis, apoptosis and senescence depending on their circumstance with time. The errors occurring in these processes develop several aberrations in phenotypes including cancer, inflammation, aging and diseases. New strategy and approach are required to screen anti-aging compounds derived from natural products. Therefore, here we explain the target proteins to play a key role in aging mechanism. In the first place, matrix metalloproteinases (MMPs) are involved in metastasis, chronic inflammation and skin aging as an aging marker. In particular, histone deacetylases (HDACs) give a great attention to aging researchers who try to extend the life span of animal model. In addition, we describe the signaling pathway related to senescence which p53, IGF-1 and SIRT1 play an important role in. Furthermore, autophagy is involved in the signaling pathway associated with aging. Several new compounds modulating the signaling pathway of senescence are introduced in this review. Here, we try to provide a new insight in the molecular basis for the aging mechanism and development of aging marker. In addition, the compounds introduced here could be available for pharmaceutical applications for the prevention and the treatment of diseases related to aging.

Association of a Single Nucleotide Polymorphism with Economic Traits in Porcine Uncoupling Protein 3 Gene (돼지의 UCP3 유전자의 단일염기서열 변이와 경제형질과의 연관성 분석)

  • Oh, Jae-Don;Lee, Kun-Woo;Jung, Il-Jung;Jeon, Gwang-Joo;Lee, Hak-Kyo;Kong, Hong-Sik
    • Journal of Life Science
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    • v.21 no.1
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    • pp.155-158
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    • 2011
  • Uncoupling protein (UCP) 3 has a number of proposed roles in the regulation of fatty acid metabolism. A number of polymorphisms in the human UCP3 gene have been identified, and the correlation with obesity related phenotypes evaluated. The objective of this study was to identify SNP in porcine UCP3 gene and to investigate the effect of the SNP on economic traits. The sequencing analysis method was used to identify nucleotide polymorphisms at position 1405 bp (Genebank accession No : AY739704) in porcine UCP3 gene. The SNP (G150R), located in the exon 3, changed the amino acid to glycine (GGG) from arginine (AGG). This G150R showed three genotypes - GG, GR and RR - by digestion with the restriction enzyme Sma Ⅰ using the PCR-RFLP method. The G150R showed significant effects only on back fat (P<0.05). Animals with the genotype GG had significantly higher back fat thickness (1.358 cm) than animals with the genotype GR (1.288 cm, P<0.05) and RR (1.286 cm, P<0.05). However, the genotypes had no significant association with ADG and days to 90kg. According to results of this study, a G allele of the G150R was found to have a significant effect on back fat thickness. It will be possible to use SNP markers on selected pigs to improve backfat thickness, an important economic trait.

Isolation of New CHO Cell Mutants Defective in CMP-Sialic Acid Biosynthesis and Transport

  • Shin, Dong-Jun;Kang, Ji Young;Kim, Youn Uck;Yoon, Joong Sik;Choy, Hyon E;Maeda, Yusuke;Kinoshita, Taroh;Hong, Yeongjin
    • Molecules and Cells
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    • v.22 no.3
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    • pp.343-352
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    • 2006
  • Sialic acid is a sugar typically found at the N-glycan termini of glycoproteins in mammalian cells. Lec3 CHO cell mutants are deficient in epimerase activity, due to a defect in the gene that encodes a bifunctional UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE). Sialic acid modification on the cell surface is partially affected in these cells. We have mutagenized Lec3 CHO cells and isolated six mutants (termed C2m) deficient in the cell surface expression of polysialic acid (PSA). Mutant C2m9 was partially defective in expression of cell-surface PSA and wheat germ agglutinin (WGA) binding, while in the other five mutants, both cell-surface PSA and WGA binding were undetectable. PSA expression was restored by complementation with the gene encoding the CMP-sialic acid transporter (CST), indicating that CST mutations were responsible for the phenotypes of the C2m cells. We characterized the CST mutations in these cells by Northern blotting and RT-PCR. C2m9 and C2m45 carried missense mutations resulting in glycine to glutamate substitutions at amino acids 217 (G217E) and 256 (G256E), respectively. C2m13, C2m39 and C2m31 had nonsense mutations that resulted in decreased CST mRNA stability, and C2m34 carried a putative splice site mutation. PSA and CD15s expression in CST-deficient Lec2 cells were partially rescued by G217E CST, but not by G256E CST, although both proteins were expressed at similar levels, and localized to the Golgi. These results indicate that the novel missense mutations isolated in this study affect CST activity.

MYLK Polymorphism Associated with Blood Eosinophil Level among Asthmatic Patients in a Korean Population

  • Lee, Soo Ok;Cheong, Hyun Sub;Park, Byung Lae;Bae, Joon Seol;Sim, Won Chul;Chun, Ji-Yong;Isbat, Mohammad;Uh, Soo-Taek;Kim, Yong Hooun;Jang, An-Soo;Park, Choon-Sik;Shin, Hyoung Doo
    • Molecules and Cells
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    • v.27 no.2
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    • pp.175-181
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    • 2009
  • The myosin light chain kinase (MYLK) gene encodes both smooth muscle and nonmuscle cell isoforms. Recently, polymorphisms in MYLK have been reported to be associated with several diseases. To examine the genetic effects of polymorphisms on the risk of asthma and related phenotypes, we scrutinized MYLK by re-sequencing/genotyping and statistical analysis in Korean population (n = 1,015). Seventeen common polymorphisms located in or near exons, having pairwise $r^2$ values less than 0.25, were genotyped. Our statistical analysis did not replicate the associations with the risk of asthma and log-transformed total IgE levels observed among African descendant populations. However, two SNPs in intron 16 (+89872C> G and +92263T> C), which were in tight LD (|D'| = 0.99), revealed significant association with log-transformed blood eosinophil level even after correction multiple testing ($P=0.002/P^{corr}=0.01$ and $P=0.002/P^{corr}=0.01$, respectively). The log-transformed blood eosinophil levels were higher in individuals bearing the minor alleles for +89872C> G and +92263T> C than in those bearing other allele. In additional subgroup analysis, the genetic effects of both SNPs were much more apparent among asthmatic patients and atopic asthma patients. Among atopic asthma patients, the log-transformed blood eosinophil levels were proportionally increased by gene-dose dependent manner of in both +89872C> G and +92263T> C(P = 0.0002 and P = 0.00007, respectively). These findings suggest that MYLK polymorphisms might be among the genetic factors underlying differential increases of blood eosinophil levels among asthmatic patients. Further biological and/or functional studies are needed to confirm our results.