• Title/Summary/Keyword: Positional candidate

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Determination of optical properties of Pr3+-doped selenide glasses of Ge-Sb-Se system using spectroscopic ellipsometry (분광타원법을 이용한 Pr 첨가 Ge-Sb-Se 계열 셀레나이드 유리의 굴절률 결정)

  • 신상균;김상준;김상열;최용규;박봉제;서홍석
    • Korean Journal of Optics and Photonics
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    • v.14 no.6
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    • pp.594-599
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    • 2003
  • By using the spectroscopic ellipsometry, we have measured and analyzed the optical characteristics of P $r^3$$^{+}$-doped selenide glasses of Ge-Sb-Se system, a strong candidate material for U band fiber amplifiers. The ellipsometric spectra measured in the transparent wavelengths range of the material were all fitted to a model consisting of ambient/roughness/thin fil $m_strate structures to obtain simultaneously the optical properties such as refractive index, in terms of Sellmeier parameters and film structure of P $r^3$$^{+}$-doped selenide glasses. Repeated measurements on different positions in both polished faces rendered to verify positional dependence of measured spectre-ellipsometric data. Hence, the model made possible the analysis of the optical characteristics of the glasses. Even though surface roughness was mainly responsible for the position dependencies, the averaged refractive indexes were as precise as to reflect the minute compositional change tantamount to 1 mol%. The measured refractive indexes are useful for design of core and clad compositions of single-mode selenide optical fibers.

Association Analysis of Neuregulin 3 Gene with Schizophrenia in a Korean Population (한국인에서 Neuregulin 3(NRG3) 유전자와 조현병의 연합 연구)

  • Shin, Su-Jin;Choi, Jong-Taek;Kim, Ji-Won;Roh, Yang-Ho;Park, Byung-Lae;Bae, Joon-Seol;Shin, Hyoung-Doo;Choi, Ihn-Geun;Han, Sang-Woo;Hwang, Jae-Uk;Woo, Sung-Il
    • Korean Journal of Biological Psychiatry
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    • v.19 no.3
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    • pp.128-133
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    • 2012
  • Objectives : Located on chromosome 10q22-q23, the human neuregulin 3 (NRG3) is suggested as a strong positional and functional candidate gene involved in the pathogenesis of schizophrenia. Several case-control studies examining the association between polymorphisms on NRG3 gene with schizophrenia and/or its traits (such as delusion) have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians, white Americans of Western European ancestry and Koreans. Thus, this study aimed to investigate the association of one SNP in exon 9 (rs2295933) of NRG3 gene with the risk of schizophrenia in a Korean population. Methods : Using TaqMan assay, rs2295933 in the exon 9 of NRG3 was genotyped in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. Differences in frequency distributions were analyzed using logistic regression models following various modes of genetic inheritance and controlling for age and sex as covariates. Results : Subsequent analysis revealed that the frequency distribution of rs2295933 of NRG3 was not different between schizophrenia patients and healthy controls of Korean ethnicity. Conclusions : This study does not support the role of NRG3 in schizophrenia in a Korean population.

Association Study Analysis of Cluster-of-Differentiation Antigen 9 (CD9) Gene Polymorphism (g.358A>T) for Duroc Boar Post-thawed Semen Motility and Kinematic Characteristics

  • Cho, Eun-Seok;Sa, Soo-Jin;Kim, Ki-Hyun;Lee, Mi-Jin;Ko, Jun-Ho;Kim, Young-Ju;Seol, Kuk-Hwan;Hong, Joon-ki;Kim, Kwang-Sik;Kim, Yong-Min;Woo, Jae-Seok
    • Journal of Embryo Transfer
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    • v.30 no.2
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    • pp.109-114
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    • 2015
  • Cryopreservation of boar semen is continually researched in reproductive technologies and genetic resource banking in breed conservation. For evaluating the boar semen quality, sperm motility (MOT) is an important parameter because the movement of spermatozoa indicates active metabolism, membrane integrity and fertilizing capacity. Various researches have been trying to improve the quality of semen post-thawed in boar. Recently, polymorphism (g.358A>T) of cluster-of-differentiation antigen 9 (CD9) gene reported to be significant association with MOT. Also, CD9 gene was expressed in the male germ line stem cells is crucial for sperm-egg fusion, and was therefore selected as candidate gene for boar semen. This study was conducted to evaluate the pig SNP (g.358A>T) of CD9 gene as a positional controlling for semen parameters of post-thawed boar semen. To results, the g.358A>T SNP of the CD9 gene was significantly associated with the traits such as MOT, curve linear velocity, straight line velocity, average path velocity and amplitude of lateral head displacement. Particularly, the g.358A>T SNP significantly has the highest association with MOT and animals with AA genotype (p<0.001). Therefore, we suggest that the g.358A>T in the intron 6 region of the porcine CD9 may be used as a molecular marker for Duroc boar Post-thawed semen quality, although its functional effect was not defined yet.

Association of Microsatellite Marker in FABP4,5 Gene with Marbling Score and Feeding and Management in Breed Hanwoo (번식한우 사양관리(비육전후)에 따른 지방산결합단백질 4, 5(FABP4, 5) 유전자와 육질의 연관성 분석)

  • Kim, Bong-Sun;Chang, Kil-Won;Lee, Seung-Hwan;Chung, Hak-Jae;Yang, Bo-Suk;Park, Jin-Ki;Kim, Min-Su;Lim, Seon-Hwa;Park, Chae-Won;Min, Kwan-Sik;Yang, Byoung-Chul
    • Reproductive and Developmental Biology
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    • v.36 no.3
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    • pp.183-188
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    • 2012
  • The bovine fatty acid binding protein 4 and 5 (FABP4 and 5) is a major positional and physiological candidate gene for the bovine marbling and carcass weight. The aim of this study was to evaluate the association between economic traits of Korean cattle (Hanwoo) and genetic variation in fatty acid binding protein 4 and 5 (FABP4 and 5) genes within carcass/meat quality traits and the before/after of fatting in breed Hanwoo. Here, we characterized the nucleotide polymorphism of FABP4 and 5 in 86 cattle. We were detected the variability of three types (GG, AG, and AA) by PCR, and economic traits were analyzed by the mixed regression model implemented in the ASReml program. As the result of statistical and supersonic analysis, FABP4 gene was highly showed significant effect (p<0.006) on marbling score (MS), in contrast FABP5 gene was lowed (p<0.084) on MS before fatting. But, FABP4 gene was highly showed significant effect (p<0.0054) on MS, in contrast FABP5 gene lowest (p<0.0899) on MS in the after of fatting. Compare to supersonic result before fatting in FABP4 gene, it was detected type GG: (p<7.18), AG: (p<8.50), and AA: (p<10.50) (n=50), showed type GG: (p<4.88), AG: (p<2.33), and AA: (p<0.00) after weed out (n=20). Futhermore, it was detected type GG: (p<9.30), AG: (p<7.95), and AA: (p<7.40) (n=50) before fatting in the FABP5 gene. It was shown type GG: (p<2.67), AG: (p<3.50), and AA: (p<5.00) after weed out (n=50). Our results indicate that FABP4 and 5 gene transcription is regulated by the environment of feeding and management, and suggest that feeding and management could be potential key in determining FABP4 and 5 genes transcription for carcass/meat quality traits in breed Hanwoo.

Potential Allelic Association of Microsatellite Markers on Bovine Chromosome 5 with Carcass Traits in Hanwoo (Korean cattle) (Microsatellite 의 대립유전자 빈도를 이용한 한우의 경제형질과의 연관성 규명)

  • Oh, Jae-Don;Kong, Hong-Sik;Cho, Byung-Wook;Lee, Mi-Rang;Jeon, Gwang-Joo;Lee, Hak-Kyo
    • Journal of Life Science
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    • v.18 no.9
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    • pp.1225-1229
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    • 2008
  • A total of 10 polymorphic microsatellite markers on bovine chromosome 5 were used for allelic association tests with phenotypic characteristics in Hanwoo. The data analyzed in this study were collected from 326 steers. Chi-square tests were performed to compare the frequencies of individual alleles between the high and the low breeding value groups. The following breeding values were analyzed for QTL effects. The frequency of allele 239 of DIK2828 showed a significant difference between the high and the low breeding value groups in the breeding value of marbling score (MSBV). The allele 279 of BMC1009 was found to show significant differences in allelic distribution for the breeding value of cold carcass weight (CWBV) and the breeding value of backfat thickness (BFBV) and allele 285 showed significant differences in allelic distribution for CWBV, BFBV, and MSBV. The allele 200 of DIK4329 showed significant differences in allelic distributions for the breeding values of longissimus muscle area (LMABV) and BFBV. In this study, we identified the QTL for carcass traits at around 20 (DIK2828), 41 (BMC1009) and 95 (DIK4329) cM in chromosome 5. The results provided a useful reference for further positional candidate gene research and marker-assisted selection for fat metabolism and carcass traits.

Development of the pyramiding lines with strong culm genes derived from crosses among the SCM near isogenic lines in rice

  • Ookawa, Taiichiro;Kamahora, Eri;Ebitani, Takeshi;Yamaguchi, Takuya;Murata, Kazumasa;Iyama, Yukihide;Ozaki, Hidenobu;Adachi, Shunsuke;Hirasawa, Tadashi;Kanekatsu, Motoki
    • Proceedings of the Korean Society of Crop Science Conference
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    • 2017.06a
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    • pp.21-21
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    • 2017
  • Severe lodging has recurrently occurred at strong typhoon's hitting in recent climate change. The identification of quantitative trait loci (QTLs) and their responsible genes associated with a strong culm and their pyramiding are important for developing high-yielding varieties with a superior lodging resistance. To identify QTLs for lodging resistance, the tropical japonica line, Chugoku 117 and the improved indica variety, Habataki were selected as the donor parent, as these had thick and strong culms compared with the temperate japonica varieties in Japan such as Koshihikari. By using chromosome segment substitution lines (CSSLs) in which chromosome segments from the japonica variety were replaced to them from Habataki, we identified the QTLs for strong culm on chrs. 1 and 6, which were designated as STRONG CULM1 (SCM1) and STRONG CULM2 (SCM2), respectively. By using recombinant inbred lines (BILs) derived from a cross between Chugoku 117 and Koshihikari and introgression lines, we also identified the other QTLs for strong culm on chrs. 3 and 2, which were designated as STRONG CULM3 (SCM3) and STRONG CULM4 (SCM4), respectively. Candidate region of SCM1 includes Gn1 related to grain number. SCM2 was identical to APO1, a gene related to the control of panicle branch number, and SCM3 was identical to FC1, a strigolactone signaling associated gene, by performing fine mapping and positional cloning of these genes. To evaluate the effects of SCM1~SCM4 on lodging resistance, the Koshihiakri near isogenic line (NIL) with the introgressed SCM1 or SCM2 locus of Habataki (NIL-SCM1, NIL-SCM2) and the another Koshihikari NIL with the introgeressed SCM3 or SCM4 locus of Chugoku 117 (NIL-SCM3, NIL-SCM4) were developed. Then, we developed the pyramiding lines with double or triple combinations derived from step-by-step crosses among NIL-SCM1 NIL-SCM4. Triple pyramiding lines (NIL-SCM1+2+3, ~ NIL-SCM1+3+4) showed the largest culm diameter and the highest culm strength among the combinations and increased spikelet number due to the pleiotropic effects of these genes. Pyramiding of strong culm genes resulted in much increased culm thickness, culm strength and spikelet number due to their additive effect. SCM1 mainly contributed to enhance their pyramiding effect. These results in this study suggest the importance of identifying the combinations of superior alleles of strong culm genes among natural variation and pyramiding these genes for improving high-yielding varieties with a superior lodging resistance.

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A Major Locus for Quantitatively Measured Shank Skin Color Traits in Korean Native Chicken

  • Jin, S.;Lee, J.H.;Seo, D.W.;Cahyadi, M.;Choi, N.R.;Heo, K.N.;Jo, C.;Park, H.B.
    • Asian-Australasian Journal of Animal Sciences
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    • v.29 no.11
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    • pp.1555-1561
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    • 2016
  • Shank skin color of Korean native chicken (KNC) shows large color variations. It varies from white, yellow, green, bluish or grey to black, whilst in the majority of European breeds the shanks are typically yellow-colored. Three shank skin color-related traits (i.e., lightness [$L^*$], redness [$a^*$], and yellowness [$b^*$]) were measured by a spectrophotometer in 585 progeny from 68 nuclear families in the KNC resource population. We performed genome scan linkage analysis to identify loci that affect quantitatively measured shank skin color traits in KNC. All these birds were genotyped with 167 DNA markers located throughout the 26 autosomes. The SOLAR program was used to conduct multipoint variance-component quantitative trait locus (QTL) analyses. We detected a major QTL that affects $b^*$ value (logarithm of odds [LOD] = 47.5, $p=1.60{\times}10^{-49}$) on GGA24 (GGA for Gallus gallus). At the same location, we also detected a QTL that influences $a^*$ value (LOD = 14.2, $p=6.14{\times}10^{-16}$). Additionally, beta-carotene dioxygenase 2 (BCDO2), the obvious positional candidate gene under the linkage peaks on GGA24, was investigated by the two association tests: i.e., measured genotype association (MGA) and quantitative transmission disequilibrium test (QTDT). Significant associations were detected between BCDO2 g.9367 A>C and $a^*$ ($P_{MGA}=1.69{\times}10^{-28}$; $P_{QTDT}=2.40{\times}10^{-25}$). The strongest associations were between BCDO2 g.9367 A>C and $b^*$ ($P_{MGA}=3.56{\times}10^{-66}$; $P_{QTDT}=1.68{\times}10^{-65}$). However, linkage analyses conditional on the single nucleotide polymorphism indicated that other functional variants should exist. Taken together, we demonstrate for the first time the linkage and association between the BCDO2 locus on GGA24 and quantitatively measured shank skin color traits in KNC.

No Association Between Single Nucleotide Polymorphisms in Distal-Less Homeobox-6 (DLX6) and Autism Spectrum Disorders (ASD) from the Korean Male Population (한국인 남성에서 자폐스펙트럼장애와 DLX6 유전자 단일염기다형성간 연관성 연구)

  • Kim, Hyoun-Geun;Won, Seong-Sik;Lee, Seung-Ku;Nam, Min;Bang, Hee-Jung;Park, Hyun-Jung;Yoon, Jin-Young;Choi, Kyung-Sik;Hong, Mee-Sook;Chung, Joo-Ho;Kwack, Kyu-Bum
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.21 no.1
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    • pp.17-22
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    • 2010
  • Objectives : Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. Methods : We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. Results : We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. Conclusion : Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.

Association of Microsatellite Marker in FABP4 Gene with Marbling Score and Live Weight in Hanwoo

  • Lee, Seung-Hwan;Cho, Yong-Min;Kim, Hyeong-Cheol;Lim, Da-Jeong;Moon, Hee-Joo;Hong, Seong-Koo;Oh, Sung-Jong;Kim, Tae-Hun;Yoon, Du-Hak;Park, Eung-Woo
    • Journal of Animal Science and Technology
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    • v.52 no.6
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    • pp.475-480
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    • 2010
  • The bovine fatty acid binding protein 4 (FABP4) plays an important role to uptake intracellular fatty acid. It has been previously reported as a positional candidate gene for marbling score in livestock. The re-sequencing of FABP4 gene detected a polymorphic AT repeated sequence in intron II of FABP4 gene. Allelic distribution for this microsatellite marker was examined in other cattle breeds. A total of 8 alleles were detected with diverse repeat units (14 to 21 AT repeat) in Hanwoo and 7 breeds. Of the 8 alleles, the predominant alleles were $[AT]_{16}$, $[AT]_{18}$ and $[AT]_{19}$ in the Hanwoo and 7 cattle breeds. The linear mixed model for genotypic effect (3237AT) on carcass traits showed a significant effect on marbling score (MAR P=0.025) and live weight (LWT; P=0.04) in the 583 Hanwoo cattle population. Live weight (LW) was highest in the homozygous $(AT)_{17}$ genotype ($557.5{\pm}6.94$) and lowest in the heterozygous $(AT)_{16/17}$ genotype ($521.7{\pm}7.70$). On the other hand, the homozygous $(AT)_{17}$ genotype ($3.0{\pm}0.15$) has the highest effect on marbling score and the lowest effect was in homozygous (AT)$_{18}$ genotype ($2.2{\pm}0.15$). The marbling score difference between both groups was 0.8 which is around two times higher than SNP genotype effect on marbling score in Limousin $\times$ Wagyu crosses.

Characterization of the Bovine FASN Gene Variation for Carcass and Beef Quality Traits in Hanwoo (소 FASN 유전자 변이의 연관불균형과 한우 도체형질에 미치는 영향)

  • Li, Song-Lan;Kim, Sang-Wook;Lee, Jung-Jae;Lee, Jun-Heon;Yoon, Du-Hak;Kim, Jong-Joo;Jeong, Young-Chul;Jeon, Soon-Hong;Choi, Jae-Won;Kim, Nae-Su;Kim, Kwan-Suk
    • Journal of Animal Science and Technology
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    • v.51 no.3
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    • pp.185-192
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    • 2009
  • Fatty acid synthase (FASN) is a multi-functional enzyme with a central role in the synthesis of long-chain fatty acid and has been considered as a positional candidate gene for BTA 19 quantitative trait loci (QTL) affecting milk-fat content and fatty acid composition. In this study, we sequenced the FASN gene in several cattle breeds including Hanwoo and imported beef cattle, and identified novel DNA polymorphisms and their linkage relationship in Hanwoo. We found a significant frequency difference of the FASN (AF285607) g.17924 A$\rightarrow$G polymorphism between Hanwoo (70%) and other breeds and this polymorphism has been known for an association with fatty acid composition in Angus. Furthermore, by direct DNA sequencing in 18 unrelated Hanwoo, we identified 27 SNPs including nine novel variations in the FASN gene. Among 27 SNPs identified in the FASN gene, four SNPs were further genotyped in 100 Hanwoo and 96 imported beef cattle, and analyzed for haplotype construction and association with beef quality traits. We performed haplotype block and linkage disequilibrium studies using four selected SNPs. Two different haplotype blocks (block A: g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$ A; block B: g.13125 C$\rightarrow$T and g.17924 G$\rightarrow$A) were constructed and the block A in particular had a very high r2 (0.936), which indicated a nearly complete linkage disequilibrium existed between the g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$A polymorphisms. A total of four major haplotypes (frequency > 0.05) were identified with the four polymorphisms including TATG (0.36), CGCG (0.31), CGTA (0.19) and TACG (0.06). Statistical association analysis revealed that the g.10568 C$\rightarrow$T and g.11280 G$\rightarrow$A polymorphisms in the FASN were significantly associated with meat color (P=0.004) and texture (P=0.0114). The g.13125 C$\rightarrow$T and g.17924 G$\rightarrow$A polymorphisms in the FASN were also significantly associated with back-fat thickness and quantity index (P=0.0179 and 0.0495, respectively). Our findings suggested that the FASN gene polymorphisms may be used for determining the (unsaturated) fatty acid contents and carcass trait in the Hanwoo beef.