• Proceedings of the Korean Society for Bioinformatics Conference
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• 2005.09a
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• pp.215-220
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• 2005

Generally, enzymes in the starch biosynthesis pathway exist in many isoforms, contributing to the difficulties in the dissection of their specific roles in controlling starch properties. In this study, we present an algorithm as an alternative method to classify isoforms of starch biosynthesis enzymes based on their conserved secondary structures. Analysis of the predicted secondary structure of plant soluble starch synthase I (SSI) and soluble starch synthase II (SSII) demonstrates that these two classes of isoform can be reclassified into three subsets, SS-A, SS-B and SS-C, according to the differences in the secondary structure of the protein at C-terminus. SS-A reveals unique structural features that are conserved only in cereal plants, while those of SS-B are found in all plants and SS-C is restricted to barley. These findings enable us to increase the accuracy in the estimation of evolutionary distance between isoforms of starch synthases. Moreover, it facilitates the elucidation of correlations between the functions of each enzyme isoforms and the properties of starches. Our secondary structure analysis tool can be applicable to study the functions of other plant enzyme isoforms of economical importance.

• Asian-Australasian Journal of Animal Sciences
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• v.28 no.7
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• pp.936-942
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• 2015

The purpose of this study was to characterize genetic architecture of behavior patterns in Sapsaree dogs. The breed population (n=8,256) has been constructed since 1990 over 12 generations and managed at the Sapsaree Breeding Research Institute, Gyeongsan, Korea. Seven behavioral traits were investigated for 882 individuals. The traits were classified as a quantitative or a categorical group, and heritabilities ($h^2$) and variance components were estimated under the Animal model using ASREML 2.0 software program. In general, the $h^2$ estimates of the traits ranged between 0.00 and 0.16. Strong genetic ($r_G$) and phenotypic ($r_P$) correlations were observed between nerve stability, affability and adaptability, i.e. 0.9 to 0.94 and 0.46 to 0.68, respectively. To detect significant single nucleotide polymorphism (SNP) for the behavioral traits, a total of 134 and 60 samples were genotyped using the Illumina 22K CanineSNP20 and 170K CanineHD bead chips, respectively. Two datasets comprising 60 (Sap60) and 183 (Sap183) samples were analyzed, respectively, of which the latter was based on the SNPs that were embedded on both the 22K and 170K chips. To perform genome-wide association analysis, each SNP was considered with the residuals of each phenotype that were adjusted for sex and year of birth as fixed effects. A least squares based single marker regression analysis was followed by a stepwise regression procedure for the significant SNPs (p<0.01), to determine a best set of SNPs for each trait. A total of 41 SNPs were detected with the Sap183 samples for the behavior traits. The significant SNPs need to be verified using other samples, so as to be utilized to improve behavior traits via marker-assisted selection in the Sapsaree population.

• Journal of Korean Neurosurgical Society
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• v.63 no.5
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• pp.559-565
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• 2020

Objective : Conflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data. Methods : This study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS. Results : The mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation. Conclusion : No significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.

• Genomics & Informatics
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• v.8 no.1
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• pp.1-8
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• 2010

Serpin peptidase inhibitor, Clade B (ovalbumin), Member 5 (SERPINB5), also known as maspin, is a potent tumor suppressor gene. It has correlations with many tumor cells, from pancreas cancer to breast cancer, so it is possible that it may also affect liver cancer. There has also been a report that SERPINB12, a gene placed right next to SERPINB5, is expressed in liver. For this study, 32 polymorphisms were identified in SERPINB5 by direct DNA sequencing, and 11 of them were selected to be tested with a larger scale subjects. The association of the 11 SERPINB5 polymorphisms with Hepatitis B virus (HBV) clearance, hepatocellular carcinoma (HCC) occurrence and the onset age of HCC were analyzed. There were no significant associations found between 11 SERPINB5 polymorphisms and HBV clearance. In the case of HCC occurrence, one of the haplotypes (ht) showed association with HCC occurrence (OR=2.26, p=0.005, $P^{Cor}=0.05$), albeit with a low statistical power (40.8%) and haplotype frequency (0.052). Further study with a bigger sample size will be needed to clearly verify the association between ht5 and HCC occurrence.

• Asian-Australasian Journal of Animal Sciences
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• v.18 no.5
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• pp.620-625
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• 2005

Correlation of microsatellite heterozygosity with performance or heterosis was reported in wild animal populations and domestic animal populations, but the correlation with heterosis in a crossbreeding F$_1$ pig population remained uncertain. To explore this, we had random selected and mated Yorkshire${\times}$Meishan (F, n = 82) and their reciprocal (G, n = 47) to F$_1$, and used the two straightbreds as control groups (Yorkshire = 34, Meishan = 55), and observed the heterosis of birth weight (BWT), average daily gain (ADG) and feed and meat ratio (FMR). Two Kinds of measurement-individual heterozygosity (IH) and individual mean d$^2$ (lg value, ID) were used as index of heterozygosity and variance from 39 microsatellite marker loci to perform univariate regression analysis against heterosis. We detected significant correlation of IH with BWT in all of F$_1$ (F+G) and in F. We observed significant correlation of ID with ADG in all of F$_1$ (F+G), and with FMR in all of F$_1$ (F+G) and in F. There was significant maternal effect on heterosis, which was indicated by significant difference of means and distribution of heterosis between F and G. This difference was consistent with distributions of IH and ID, and with difference of means in F and G. From this study, it would be suggested that the two kinds of genetic index could be used to explore the genetic basis of heterosis in crossbreeding populations but could not determine which is better.

• Biomedical Science Letters
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• v.25 no.3
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• pp.237-246
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• 2019

Left ventricular hypertrophy (LVH) refers to the expansion and the enlarged myocardium due to the increased resistance to ejection from the left ventricle to the aorta and/or the periphery, or the long-term burden imposed by the blood increase. Hypertension is a major risk factor that accounts for more than 50% of the causes of cardiovascular disease. If hypertension endure in the long term, the myocardium responds to abnormal heartbeat in the heart. Therefore, the prevalence of left ventricular hypertrophy also increases. As a result of genome-wide association study (GWAS) analysis for European people, PDGFC, MARK3, and BCL2 were related to blood pressures. In this study, the genetic polymorphisms of PDGFC, MARK3, and BCL2 were extracted and selected based on Korean genomic and epidemiologic data, and then logistic regression analysis was performed on LVH. As a result, one SNP (rs9307953) in PDGFC gene, four SNPs (rs6575983, rs17679475, rs2273703 and rs10141388) in MARK3 gene and two SNPs (rs17756073 and rs17070739) in BCL2 gene were statistically significant. The rs6575983 of the MARK3 gene showed the highest significance level ($P=7.2{\times}10^{-3}$) among the SNPs and the relative risk of 1.08 (95% confidence interval: 1.06 to 1.45). These results suggest that the polymorphisms of PDGFC, MARK3, and BCL2 not only affect European blood pressures but also correlate with LVH in Korean. These results suggest that increased understanding of the genetic correlations of the pathogenesis of LVH.

• Journal of Animal Science and Technology
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• v.50 no.5
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• pp.613-620
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• 2008

The genetic parameters used in National Hanwoo Genetic Evaluation(NHGE) were needed to be monitored and updated periodically for accounting any possible changes in population parameters due to selection and environmental changes. Genetic parameters were estimated with single and two-trait models with MTDFREML package using 2,791 carcass records of steers collected from Hanwoo Progeny Test Program(HPTP). Single and two-trait models gave similar parameter estimates for all traits. The heritability estimates from single and two-trait models for carcass weight(CW), dressing percentage(DP), eye muscle area(EMA), back fat thickness(BFT) and marbling score(MS) were 0.30, 0.30, 0.37, 0.44 and 0.44, respectively. The heritability estimates for all the traits except BFT were slightly lower than those used in NHGE but seemed to be within the acceptable ranges. However, further monitoring is needed because the data might not have fully reflected the changes such as carcass grading standards in performance testing program. In order to shift statistical model of NHGE from single trait model to multiple-trait model, the genetic correlations between carcass traits were estimated with pairwise two-trait models. The genetic correlation coefficients between CW and DP, between CW and EMA, between CW and BFT and between CW and MS were 0.44, 0.63, 0.17 and 0.06, respectively. Those between DP and EMA, between DP and BFT and between DP and MS were 0.29, 0.40 and 0.20. Those between EMA and BFT and between EMA and MS were －0.24 and 0.15, respectively. The genetic correlation coefficient between BFT and MS was 0.03.

• The Korean Journal of Malacology
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• v.24 no.2
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• pp.121-130
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• 2008

In other aquaculture species, large improvements in growth have been achieved through selective breeding. Ezo abalone(Haliotis discus hannai) and disk abalone(H. discus discus) are major aquatic animals cultured in Asia, but selective breeding for the promotion of growth with these abalones has not been actively pursued. Recently significant efforts are being made to promote production of these species through selective breeding in Korea. The aims of this work were to estimate the general genetic parameters, heritabilities, and genetic and phenotypic correlations on growth-related traits at 1-year old in two Korean abalone subspecies, H. discus hannai and H. discus discus, by using multiple trait animal model. The data were collected from the records of 1,504 individuals produced from 22 sires and 26 dams in H. discus hannai and 297 individuals produced from 5 sires and 6 dams in H. discus discus, which evaluated by the Genetics and Breeding Research Center, National Fisheries Research & Development Institute(NFRDI). Genetic parameters were estimated for these abalone subspecies raised in Bukjeju branch, NFRDI, from May 20, 2004 to May 16, 2005, respectively. The heritability estimates obtained from restricted maximum likelihood(REML) were higher than expected, ranging from 0.40 to 0.43 for growth traits shell length, shell width and body weight in H. discus hannai and from 0.26 to 0.51 in H. discus discus, respectively. The heritabilities for shell shape and condition factor were lower than others of growth traits such as ranging from 0.09 to 0.19 in H. discus hannai and from 0.10 to 0.23 in H. discus discus, respectively. Genetic and phenotypic were > 0.93 between shell parameters and weight in two abalone species, respectively, indicating that breeding for weight gains could be successfully achieved by selecting for shell length.

• Journal of Animal Science and Technology
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• v.54 no.1
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• pp.9-14
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• 2012

The purpose of this study was to estimate heritabilities and genetic correlations for reproductive and productive traits and to apply their estimates to selection strategies in a swine population. Reproductive and productive traits considered in this study were number of born alive piglet (NBA), number of weaned piglet (NW), loin eye area (LEA), days to 90 kg (D90KG), back fat thickness (BF), and lean meat content (LEAN). Data were collected from 9,886 litters on 2,447 sows for reproductive traits and 10,181 gilts and boars for productive traits from Jan. 2000 to Dec. 2008 in a swine GGP farm. The statistical model to estimate genetic parameters for considering traits was a multiple traits animal model with including animal and maternal additive effects and litter effects on reproductive traits and animal additive effects on productive traits as random as well as some of fixed effects. For estimating (co) variance components of several random effects, restricted maximum likelihood methodology was used on this assumed model. The estimated heritabilities by animal additive effects and maternal effects were 0.07 and 0.02 for NBA and 0.03 and 0.02 for NW, respectively. Genetic correlation estimate for direct genetic effects between NBA and NW was 0.14. Heritability estimates for direct genetic effects were 0.19, 0.39, 0.36, and 0.43 for LEA, D90KG, BF and LEAN, respectively. The genetic correlation of LEA with LEAN was 0.35. Productive traits were antagonistically correlated with reproductive traits. From these results it is concluded that, if selection is done for strong positive effects of reproductive traits, then this would decline productive performance.

• Asian-Australasian Journal of Animal Sciences
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• v.28 no.12
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• pp.1696-1702
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• 2015

The objective of this study was to compare the effects of body weight growth adjustment methods on genetic parameters of body growth and tissue among three pig breeds. Data collected on 101,820 Landrace, 281,411 Yorkshire, and 78,068 Duroc pigs, born in Korean swine breeder farms since 2000, were analyzed. Records included body weights on test day and amplitude (A)-mode ultrasound carcass measures of backfat thickness (BF), eye muscle area (EMA), and retail cut percentage (RCP). Days to 90 kg body weight (DAYS90), through an adjustment of the age based on the body weight at the test day, were obtained. Ultrasound measures were also pre-adjusted (ABF, EMA, AEMA, ARCP) based on their test day measures. The (co)variance components were obtained with 3 multi-trait animal models using the REMLF90 software package. Model I included DAYS90 and ultrasound traits, whereas model II and III accounted DAYS90 and pre-adjusted ultrasound traits. Fixed factors were sex (sex) and contemporary groups (herd-year-month of birth) for all traits among the models. Additionally, model I and II considered a linear covariate of final weight on the ultrasound measure traits. Heritability ($h^2$) estimates for DAYS90, BF, EMA, and RCP ranged from 0.36 to 0.42, 0.34 to 0.43, 0.20 to 0.22, and 0.39 to 0.45, respectively, among the models. The $h^2$ estimates of DAYS90 from model II and III were also somewhat similar. The $h^2$ for ABF, AEMA, and ARCP were 0.35 to 0.44, 0.20 to 0.25, and 0.41 to 0.46, respectively. Our heritability estimates varied mostly among the breeds. The genetic correlations ($r_G$) were moderately negative between DAYS90 and BF (-0.29 to -0.38), and between DAYS90 and EMA (-0.16 to -0.26). BF had strong $r_G$ with RCP (-0.87 to -0.93). Moderately positive $r_G$ existed between DAYS90 and RCP (0.20 to 0.28) and between EMA and RCP (0.35 to 0.44) among the breeds. For DAYS90, model II and III, its correlations with ABF, AEMA, and ARCP were mostly low or negligible except the $r_G$ between DAYS90 and AEMA from model III (0.27 to 0.30). The $r_G$ between AEMA and ABF and between AEMA and ARCP were moderate but with negative and positive signs, respectively; also reflected influence of pre-adjustments. However, the $r_G$ between BF and RCP remained non-influential to trait pre-adjustments or covariable fits. Therefore, we conclude that ultrasound measures taken at a body weight of about 90 kg as the test final should be adjusted for body weight growth. Our adjustment formulas, particularly those for BF and EMA, should be revised further to accommodate the added variation due to different performance testing endpoints with regard to differential growth in body composition.