정상인 및 당뇨병환자에서의 경구당부하시 혈중 Insulin과 C-Peptide의 변동

이명철,고창순,최성재,김응진,민헌기 대한핵의학회 1977 핵의학 분자영상 Vol.11 No.1

저자들은 정상인 및 당뇨병환자에서 insulin과 C-peptide의 변동양상의 의의를 관찰하고 또한 비만이 insulin 반응에 영향을 끼치는 것을 보고자 정상인 15명 (비비만형 10명, 비만형 5명), 중등도당뇨병환자 22례 (비비만형 13례, 비만형 9례) 및 중증당뇨병환자 9례, 총 46명을 대상으로 경구적 당부하시험을 시행하고 각 혈중 insulin과 C-peptide를 방사면역법으로 측정하여 다음과 같은 결과를 얻었기에 보고하는 바이다. 1) 10명의 비비만형정상인에서의 insulin치는 공복시 및 100 gm 경구당부하후 30, 60, 90, 120분에서 각각 15.7±3.4, 48.3±9.8, 4.4±6.7, 37.4±6.5 및 26.0±4.2uU/ml(Mean±S.E.)이고 C-peptide는 각각 1.9±0.3, 3.9±0.6, 6.3±0.6, 5.7±0.5 및 4.0±0.5 ng/ml로서 insulin가 C-peptide 평행한 반응을 보였고 insulin은 30분에서 최고치를 나타낸 반면 C-peptide는 60분에서 최고치를 보였다. 2) 비만형정상인 5례에서 insulin은 각각 38.9±12.3, 59.5±12.3, 59.2±17.1, 56.1±20.0 및 48.4±17.2uU/ml이고 C-peptide는 각각 5.5±0.4, 6.8±0.5, 7.9±0.8, 7.9±0.8 및 7.8±2.0ng/ml로서 비비만형에 비하여 반응이 현저히 증가함을 보였다. 3) 13례의 비비만형중등도당뇨병환자의 혈장내 insulin은 각각 27.1±4.9, 44.1±6.0, 37.3±6.6, 35.5±8.1 및 34.7±10.7uU/ml이고 C-peptide는 각각 2.7±0.4, 4.9±0.7, 6.5±0.5, 7.0±0.3 및 6.7±1.0ng/ml로서 비비만형정상군에 비하여 insulin 및 C-peptide의 차이는 없으나 지연되는 양상을 보였다. 4) 비비만형중등도당뇨병환자 9명에서의 insulin은 각각 22.1±7.9, 80.0±19.3, 108.0±27.0, 62.0±17.6 및 55.5±10.1 uU/ml이었으며 C-peptide는 5.2±0.4, 8.0±1.0, 10.4±1.6, 10.4±1.7 및 10.0±10ng/ml로서 insulin과 C-peptide 반응이 비비만형중둥도당뇨병환자군에 비해 각각 항진됨을 볼 수 있었다. 5) 중증당뇨병환자 9례에서의 혈중 insulin은 8.0±3.8, 12.1±3.5, 16.8±4.6, 19.6±5.2 및 15.0±5.0uU/ml이며 C-peptide는 1.6±0.3, 2.4±0.4, 4.1±0.6, 4.0±0.8 및 4.5±0.7ng/ml로서 insulin과 C-peptide가 각각 현저히 감소하였다. 이 각 당뇨병환자군에서의 총 insulin 및 C-peptide 면적, 그리고 insulinogenic index와 C-peptide index를 산출한 결과 당뇨병정도에 따른 유의한 차이를 관찰하였다. The present study was undertaken to evaluate the significance of the insulin and the C-peptide rseponse to oral glucose loads in normal and diabetic subjects and to establish the effects of the obesity. In this study, the authors have measured plasma insulin and C-peptide by means of radioimmunoassay in 10 nonobese normal, 5 obese normal, 13 nonobese moderate diabetic patients, 9 obese moderate diabetic patients and 9 severe diabetic patients. The results obtained were as follows; 1) In 10 nonobese normal subjects, the plasma insulin level at fasting state and at 30, 60, 90, and 120 min after oral glucose loads were 15.7±3.4, 48.3±9.8, 40.4±6.7, 37.4±6.5 and 26.0±4.2uU/ml(Mean±S.E.) and C-peptide were 1.9±0.3, 3.9±0.6, 6.3±0.6, 5.7±0.5 and 4.0±0.5ng/ml. The change of C-peptide was found to go almost parallel with that of insulin and the insulin value reaches to the highest level at 30 min whereas C-peptide reaches to its peak at 60min. 2) The plasma insulin level in 5 obese normal subjects were 38.5±12.3, 59.2±17.1, 56.1±20.0 and 48.4±17.2 uU/ml and the C-peptide were 5.5±0.4, 6.8±0.5, 7.9±0.8, 7.9±0.8 and 7.8±2.0ng/ml. The insulin response appeared to be greater than nonobese normal subjects. 3) In 13 nonobese moderate diabetic patients, the plasma insulin levels were 27.1±4.9, 44.1±6.0, 37.3±6.6, 35.5±8.1 and 34.7±10.7uU/ml and the C-peptide levels were 2.7±0.4, 4.9±0.7, 6.5±0.5, 7.0±0.3 and 6.7±1.0ng/ml. There was little significance compared to nonobese normal groups but delayed pattern is noted. 4) In 9 obese moderated diabetic patients, the plasma insulin levels were 22.1±7.9, 80.0±19.3, 108.0±27.0, 62.0±17.6 and 55.5±10.luU/ml and the C-peptide levels were 5.2±0.4, 8.0±1.0, 10.4±1.6, 10.4±1.7 and 10.1±1.0ng/ml and its response was also greater than that of nonobese moderate diabetic patients. 5) The plasma insulin concentrations in 9 severe diabetic subjects were 8.0±3.8, 12.1±3.5, 16.8±4.6, 19.6±5.2 and 15.0±5.0uU/ml and the C-peptide levels were 1.6±0.3, 2.4/ml and the insulin and C-peptide responses were markedly reduced in severe diabetic groups. 6) There were significant differences between each groups of patients on the magnitude of total insulin or C-peptide areas, the insulinogenic index and the C-peptide index. $quot;

소 c-KIT Receptor 유전자의 다형성에 관한 연구

장요순,김태헌,윤두학,박응우,이혜원,이학교,정일정 한국동물자원과학회 2002 한국축산학회지 Vol.44 No.6

소의 흰 반점 관련 후보유전자로 c-KIT receptor 유전자를 선정하여, c-KIT receptor 유전자내의 변이를 탐색하고 변이가 흰반점 표현형과 연관성이 있는지를 분석하였다. 한우, Angus, Brown Swiss, Charolais, Hereford, Holstein, Limousin 및 Simmental 등 8개 품종의 DNA 시료를 사용하여 c-KIT receptor 유전자의 intron 6번 영역에서 다형성을 조사하고 분석하였다. c-KIT receptor 유전자의 intron 6번 영역에서는 4개의 염기치환이 발견되어, MspⅠ, BsrBⅠ 및 NdeⅠ 제한효소를 이용하여 PCR-RFLP 분석을 실시하였다. Intron 6번을 포함하는 영역의 PCR 산물 크기는 2,440 bp 이었다. MspⅠ다형성은 PCR-RFLP 분석 결과 3개의 대립유전자가 존재하였으며, 한우품종에서는 3개의 대립유전자 모두가 발견되었고, CC 형태이 유전자형을 제외한 5개의 유전자형 (AA, AB, AC, BC 및 BB)을 확인하였다. Angus, Brown Swiss, Hereford, Holstein 및 Simmental 품종에서는 A 대립유전자만을 갖는 것으로 조사되었고, 한우는 44%만 AA 유전자형을 나타내었다. BsrBⅠ 다형성은 2개의 대립유전자로서 3개의 유전자형이 나타나는 것을 확인하였으며, Charolais 및 Hereford 품종이 다른 소 품종에 비하여 A 대립유전자의 빈도가 높게 나타났다. NdeⅠ 다형성을 분석한 결과 Brown Swiss 품종에서는 NdeⅠ에 의해 절단되는 형태인 A 대립유전자만 관찰되었으며, Holstein 품종은 92%, Simmental 품종은 72%가 절단되는 형태를 나타내어, 모색이 흰색을 띠는 소 품종에서 절단되는 형태가 많았다. 소 c-KIT receptor 유전자의 intron 6번 영역에서 확인된 4개의 염기치환은 품종에 따라 다른 빈도를 보였으나, 이들 염기치환과 흰 반점과의 연관성에 대한 증거는 발견하지 못하였다. 그러므로 소의 흰 반점과 c-KIT receptor 유전자 내의 변이와의 관련성은 다른 영역에 대한 추가적인 분석과, 이미 보고된 다른 모색관련 유전자의 다형성과의 연관성 분석 등과 같은 연구가 필요한 것으로 판단된다. We considered KIT gene as a candidate gene for the white-spotting pattern in cattle. This study was carried out to detect genetic variation of c-KIT receptor gene and to investigate association between the mutation and the white-spotting pattern in cattle. PCR-RFLP analysis within intron 6 of c-KIT receptor gene were performed with 8 cattle breeds including Hanwoo, Angus, Brown Swiss, Charolais, Hereford, Holstein, Limousin and Simmental. When PCR product of approximately 2,440 bp including intron 6 of c-KIT receptor gene was sequenced, four nucleotide substitutions were found within intron 6 of the bovine c-KIT receptor gene. In PCR-RFLP analysis, three alleles (A, B and C), two alleles (A and B) and two alleles (A and B) at each locus were identified by Msp Ⅰ, BsrBⅠ and NdeⅠ, respectively. Although frequencies of allele at each locus were different among cattle breeds, we could not get any evidence related with white or white spotting phenotypes in these mutations on intron 6 of c-KIT receptor gene. However, we can not entirely exclude the possibility that c-KIT receptor gene is responsible for white spotting phenotype in cattle. Thus, further studies need to detect other mutations in c-KIT receptor gene and to test association of those mutations and coat color phenotypes in cattle.

Korean Byungkyul - Citrus platymamma Hort.et Tanaka flavonoids induces cell cycle arrest and apoptosis, regulating MMP protein expression in Hep3B hepatocellular carcinoma cells

Hong, G. E.,Lee, H. J.,Kim, J. A.,Yumnam, S.,Raha, S.,Saralamma, V. Venkatarame Gowda,Heo, J. D.,Lee, S. J.,Kim, E. H.,Won, C. K. Lychnia 2017 International journal of oncology Vol.50 No.2

<P>Citrus platymamma Hort.et Tanaka is an indigenous fruit of Jeju island in Korea. In this study the bioactivity of C. platymamma flavonoids were evaluated on human hepatoma Hep3B cell lines. Eleven flavonoids were identified from the peels of C. platymamma Hort.et Tanaka through high-performance liquid chromatography-Tandem mass spectrometry and the anticancer effect of these C. platymamma flavonoids on human hepatoma Hep3B were studied. Chromatin condensation was observed in Hep3B cells treated with C. platymamma flavonoids. DNA fragmentation was confirmed through agarose gel electrophoresis and TUNEL assay. An increase in the total apoptotic cells and G2/M cell cycle arrest with decreased protein expression of CDC25C, CDK1, cycl in B1 and p21 were observed in Hep3B cells treated with flavonoids of C. platymamma. Further, protein expression of Bcl-XL, Bax, caspase-3 and -9 were also modulated by C. platymamma flavonoids treatment indicating that cell death is through intrinsic apoptotic pathway. Moreover, C. platymamma flavonoids also regulated the phosphorylation of MAPKs, PI3K, and Akt in Hep3B cells. Relevant to inhibiting metastasis, C. platymamma treatment reduced wound closure of Hep3B cells and the protein expression of matrix metalloproteinase-2 and -9 were reduced in C. platymamma treated cells. The results show that C. platymamma flavonoids induce cell cycle arrest and apoptosis following activation of MAPKs and suppression of PI3K/Akt pathway which eventually inhibits cell migration in Hep3B cells. The finding provides evidence on biochemical activities of C. platymamma Hort.et Tanaka, which would be an essential agent for hepatocellular carcinoma (HCC) treatment.</P>

Development of additive [¹¹C]CO₂ target system in the KOTRON-13 cyclotron and its application for [¹¹C]radiopharmaceutical production

Moon, B.S.,Lee, H.J.,Lee, W.K.,Hur, M.G.,Yang, S.D.,Lee, B.C.,Kim, S.E. North-Holland Physics Pub 2015 Nuclear instruments & methods in physics research. Vol.356 No.-

The KOTRON-13 cyclotron, which was developed in South Korea for the production of medical radioisotopes, has the structural limitation of only one beam-output port, restricting the production of the carbon-11 isotope. In the present study, we investigate the design of a switchable target system and develop an effective carbon-11 target in the KOTRON-13 cyclotron, for combination with the fluorine-18 target. The target system was designed by introducing a sliding-type element between the fluorine-18 and carbon-11 targets, a tailor-made C-11 target and its cooling system. For the efficient production of [<SUP>11</SUP>C]CO<SUB>2</SUB>, the desirable target shape and internal volume were determined by a Stopping and Range of Ions in Matter (SRIM) simulation program, and the target grid was modified to resist the cavity pressure during beam irradiation. We evaluated the [<SUP>11</SUP>C]CO<SUB>2</SUB> production while varying the material and thickness of the target foil, oxygen content of the nitrogen gas, and target loading pressure. Using sliding-type equipment including an additional gate valve and a high vacuum in a beam line, the bi-directional conversion between the fluorine-18 and carbon-11 targets was efficient regarding the accurate beam irradiation on both targets. The optimal [<SUP>11</SUP>C]CO<SUB>2</SUB> production for 30min irradiation at 60μA (86.6+/-1.7GBq in the target at EOB) was observed at a thickness of 19μm with HAVAR® material as a target foil and a target loading pressure of 24bar with nitrogen plus 300ppb of oxygen gas. Additionally, the coolant cavity system in the target grid and target chamber is useful to remove the heat transferred to the target body by the internal convection of water and thereby ensure the stability of the [<SUP>11</SUP>C]CO<SUB>2</SUB> production under a high beam current. In the application of C-11 labeled radiopharmaceuticals such as [<SUP>11</SUP>C]PIB, [<SUP>11</SUP>C]DASB, [<SUP>11</SUP>C]PBR28, [<SUP>11</SUP>C]Methionine and [<SUP>11</SUP>C]Clozapine, the radiochemical yields were shown to be 25-38% (decay corrected) with over 166GBq/μmol of specific activity. Consequently, the additive carbon-11 target system was successfully developed in only one output port of the KOTRON-13 cyclotron and exhibited the stable production of C-11 labeled radiopharmaceuticals.

Preparation of [bis(amido)-phosphine] and [amido-phosphine sulfide or oxide] hafnium and zirconium complexes for olefin polymerization

Lee, C.S.,Park, J.H.,Hwang, E.Y.,Park, G.H.,Go, M.J.,Lee, J.,Lee, B.Y. Elsevier Sequoia 2014 Journal of organometallic chemistry Vol. No.

New phosphine-based bidentate ligands, 2-Me-8-Ph<SUB>2</SUB>P(X)C<SUB>9</SUB>H<SUB>8</SUB>NH (3, X = O; 4, X = S) and N-R-2-Ph<SUB>2</SUB>P(X)C<SUB>6</SUB>H<SUB>4</SUB>NH (5, R = Et, X = O; 6, R = Me, X = S; 7, R = Et, X = S) were prepared via ortho-lithiation of 1,2,3,4-tetrahydroquinaldine (2-Me-C<SUB>9</SUB>H<SUB>9</SUB>NH) and aniline derivatives (N-R-C<SUB>6</SUB>H<SUB>5</SUB>NH). Reaction of the ortho-lithiated compounds with 0.5 equiv of PhP(OPh)<SUB>2</SUB> afforded the bis(amido)-phosphine ligands (2-Me-C<SUB>9</SUB>H<SUB>8</SUB>NH-8-yl)<SUB>2</SUB>PPh (8) and (N-R-C<SUB>6</SUB>H<SUB>4</SUB>NH-2-yl)<SUB>2</SUB>PPh (9, R = Me; 10, R = Et). Using these ligands, [amido-phosphine oxide]Hf(CH<SUB>2</SUB>Ph)<SUB>3</SUB>, [amido-phosphine sulfide]Hf(CH<SUB>2</SUB>Ph)<SUB>3</SUB>, [bis(amido)-phosphine]MX<SUB>2</SUB> (M = Hf, Zr; X = CH<SUB>2</SUB>Ph, Cl, Me), and [amido-phosphine-amine]MCl<SUB>3</SUB> complexes were prepared. The molecular structures of [amido-phosphine sulfide]Hf(CH<SUB>2</SUB>Ph)<SUB>3</SUB> (13) (prepared using 6), [bis(amido)-phosphine]ZrMe<SUB>2</SUB> (22) (prepared using 8), and [amido-phosphine-amine]MCl<SUB>3</SUB> (23, M = Hf; 24, M = Zr; prepared using 9) were confirmed by X-ray crystallography. Most of the prepared complexes exhibited negligible or low activity for ethylene/1-octene copolymerization. The [amido-phosphine sulfide]Hf(CH<SUB>2</SUB>Ph)<SUB>3</SUB> complex (13) exhibited relatively high copolymerization activity (19 x 10<SUP>6</SUP> g/mol-Hf h); however, this activity was unsatisfactory compared to that of the related [amido-phosphine]Hf(CH<SUB>2</SUB>Ph)<SUB>3</SUB> complexes (up to 48 x 10<SUP>6</SUP> g/mol-Hf h).

A C1 inhibitor ortholog from rock bream (Oplegnathus fasciatus): Molecular perspectives of a central regulator in terms of its genomic arrangement, transcriptional profiles and anti-protease activities of recombinant peptide

Umasuthan, N.,Bathige, S.D.N.K.,Revathy, K.S.,Wickramaarachchi, W.D.N.,Wan, Q.,Whang, I.,Kim, E.,Park, M.A.,Park, H.C.,Lee, J. Pergamon Press ; Elsevier Science 2014 DEVELOPMENTAL AND COMPARATIVE IMMUNOLOGY Vol.42 No.2

C1 inhibitor (C1Inh), a member of serpin superfamily, is a crucial regulator of the activation of various plasmatic cascades associated with immunity and inflammation. This study describes the identification and characterization of a C1Inh gene from rock bream Oplegnathus fasciatus (OfC1Inh) at structural, expressional and functional levels. The cDNA-(2245bp) and corresponding gDNA-sequences (5.2kbp) of OfC1Inh were isolated from rock bream transcriptome- and BAC-libraries, respectively. Predicted amino acid sequence of OfC1Inh revealed a two-domain architecture composed of an N-terminal region with two Ig-like domains and a C-terminal region with a serpin domain. Tertiary model of OfC1Inh disclosed its active site topology. In the multi-exonic genomic arrangement of OfC1Inh, it consisted of eleven exons disjoined by ten introns as observed in few other fish homologs. Our comparative analysis indicated that the teleostean C1Inhs were distinct from their non-teleostean vertebrate counterparts in terms of their (1) extended N-terminal domains, (2) evolutionary divergence and (3) exon-intron distribution. The OfC1Inh had a TATA-deficient promoter with a putative initiator element, and two tandemly arranged downstream promoter elements. Several components associated with the immune and inflammatory transcriptional activation were also predicted to exist in 5' flanking region of OfC1Inh. The exclusive mRNA levels in liver and moderate levels in extra-hepatic tissues intimated the diversified importance of OfC1Inh in rock bream physiology. We also provide an evidence for the involvement of OfC1Inh in immune balance, based on its modulated transcription upon different PAMP (lipopolysaccharide and poly I:C)- or pathogen (Streptococcus iniae and rock bream irido virus)-challenges. A recombinantly expressed fusion protein [(r)OfC1Inh] was employed in demonstrating the anti-protease function of OfC1Inh. The (r)OfC1Inh exhibited detectable inhibitory activity against C1 esterase and thrombin, where the anti-C1 esterase role was shown to be potentiated by heparin. Taken together, the results of this study provide the first line of evidence for the possible involvement of a teleostean C1Inh in fish immunity, based on its expressional response(s) and inhibitory properties against two enzymes involved in biological cascades.

The essential oils of Chamaecyparis obtusa promote hair growth through the induction of vascular endothelial growth factor gene

Lee, G.S.,Hong, E.J.,Gwak, K.S.,Park, M.J.,Choi, K.C.,Choi, I.G.,Jang, J.W.,Jeung, E.B. Inverni Della Beffa S.p.A ; Elsevier Science 2010 Fitoterapia Vol.81 No.1

Chamaecyparis obtusa (C. obtusa) is a conifer in the cypress family Cupressaceae, native to northeast Asia. The essential oils of C. obtusa have antibacterial and antifungal effects and several products such as hygienic bands, aromatics, and shampoos contain these oils as a natural source of antimicrobial/antifungal agents. Interestingly, some consumers suffering from baldness and/or other forms of hair loss have reported a hair growth promoting effect of shampoos containing these oils. In the present study, the hair growth promoting effect of C. obtusa oils was elucidated in an animal model. C. obtusa oils promoted the early phase of hair growth in shaved mice. In addition, we examined the molecular effect of C. obtusa oils on the regulation of hair morphogenesis and hair growth using the human keratinocyte cell line HaCaT. In the current study of hair growth regulating genes, the expressions of vascular endothelial growth factor (VEGF), transforming growth factor (TGFβ1), and keratinocyte growth factor(KGF) have been analyzed by real-time PCR in HaCaT cells. The essential oils of C. obtusa were divided into seven fractions for treatment of HaCaT cells. VEGF transcripts were induced by fractions 6 and 7; however, TGFβ1 and KGF mRNA levels were unchanged by C. obtusa oils or fractions. Fraction 7 was separated into seven sub-fractions and studied further. Sub-fractions E and D significantly increased VEGF and KGF gene expression without up-regulating the hair growth inhibition factor, TGFβ1. The components of the two sub-fractions were further analyzed by gas chromatography and mass spectrometry. Cuminol, eucarvone, and calamenene were common to these two sub-fractions, although the effects of these individual components were not determined. Taken together, these results suggest that C. obtusa oils promote hair growth in an animal model and a positive regulator of hair growth, VEGF, was induced by particular components of these oils.

NMR study of hydrogen exchange during the B-Z transition of a DNA duplex induced by the Zα domains of yatapoxvirus E3L

Lee, E.H.,Seo, Y.J.,Ahn, H.C.,Kang, Y.M.,Kim, H.E.,Lee, Y.M.,Choi, B.S.,Lee, J.H. North-Holland Pub ; Elsevier Science Ltd 2010 FEBS letters Vol.584 No.21

The Yaba-like disease viruses (YLDV) are members of the Yatapoxvirus family and have double-stranded DNA genomes. The E3L protein, which is essential for pathogenesis in the vaccinia virus, consists of two domains: an N-terminal Z-DNA binding domain and a C-terminal RNA binding domain. The crystal structure of the E3L orthologue of YLDV (yabZα<SUB>E3L</SUB>) bound to Z-DNA revealed that the overall structure of yabZα<SUB>E3L</SUB> and its interaction with Z-DNA are very similar to those of hZα<SUB>ADAR1</SUB>. Here we have performed NMR hydrogen exchange experiments on the complexes between yabZα<SUB>E3L</SUB> and d(CGCGCG)<SUB>2</SUB> with a variety of protein-to-DNA molar ratios. This study revealed that yabZα<SUB>E3L</SUB> could efficiently change the B-form helix of the d(CGCGCG)<SUB>2</SUB> to left-handed Z-DNA via the active-mono B-Z transition pathway like hZα<SUB>ADAR1</SUB>1.

Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II

Lee, K‐,E,Kang, H‐,Y,Lee, S‐,K,Yoo, S‐,H,Lee, J‐,C,Hwang, Y‐,H,Nam, KH,Kim, J‐,S,Park, J‐,C,Kim, J‐,W Blackwell Publishing Ltd 2011 Clinical genetics Vol.79 No.4

<P>Lee K‐E, Kang H‐Y, Lee S‐K, Yoo S‐H, Lee J‐C, Hwang Y‐H, Nam KH, Kim J‐S, Park J‐C, Kim J‐W. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.</P><P>The dentin sialophosphoprotein (<I>DSPP</I>) gene encodes the most abundant non‐collagenous protein in tooth dentin and DSPP protein is cleaved into several segments including the highly phosphorylated dentin phosphoprotein (DPP). Mutations in the <I>DSPP</I> gene have been solely related to non‐syndromic form of hereditary dentin defects. We recruited three Korean families with dentinogenesis imperfecta (DGI) type II and sequenced the exons and exon–intron boundaries of the <I>DSPP</I> gene based on the candidate gene approach. Direct sequencing of PCR products and allele‐specific cloning of the highly repetitive exon 5 revealed novel single base pair (bp) deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic amino acids in the hydrophilic repeat domain of the DPP coding region. All affected members of the three families showed exceptionally rapid pulp chambers obliteration, even before tooth eruption. Individuals with the c.3560delG mutation showed only mild, yellowish tooth discoloration, in contrast to the affected individuals from two families with c.2688delT mutation. We believe that these results will help us to understand the molecular pathogenesis of DGI type II as well as the normal process of dentin biomineralization.</P>

Characterization of Phosphoinositide-3-kinase, Class 3 (PIK3C3) Gene and Association Tests with Quantitative Traits in Pigs

Kim, J.H.,Choi, B.H.,Lim, H.T.,Park, E.W.,Lee, S.H.,Seo, B.Y.,Cho, I.C.,Lee, J.G.,Oh, S.J.,Jeon, J.T. Asian Australasian Association of Animal Productio 2005 Animal Bioscience Vol.18 No.12

This study deals with the characterization of porcine PIK3C3 and association tests with quantitative traits. PIK3C3 belongs to the class 3 PI3Ks that participate in the regulation of hepatic glucose output, glycogen synthase, and antilipolysis in typical insulin target cells such as those in the such as liver, muscle system, and fat. On the analysis of full-length mRNA sequence, the length of the PIK3C3 CDS was recorded as 2,664 bps. As well, nucleotide and amino acid identities between human and pig subjects were 92% and 99%, respectively. Five SNPs were detected over 5 exons. We performed genotyping by using a SNP C2604T on exon24 for 145 F$_2$ animals (from a cross between Korean native boars and Landrace sows) by PCR-RFLP analysis with Hpy8I used to investigate the relationship between growth and fat depot traits. In the total association analysis, which doesn' consider transmission disequilibrium, the SNP showed a significant effect (p<0.05) on body weight and carcass fat at 30 weeks of age as well as a highly significant effect (p<0.01) on back fat. In an additional sib-pair analysis, C allele still showed positive and significant effects (p<0.05) on back fat thickness and carcass fat. Moreover, the effects of C allele on the means of within-family components for carcass fat and back fat were estimated as 2.76 kg and 5.07 mm, respectively. As a result, the SNP of porcine PIK3C3 discovered in this study could be utilized as a possible genetic marker for the selection of pigs that possess low levels of back fat and carcass fat at the slaughter weight.