• Asian-Australasian Journal of Animal Sciences
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• 제32권11호
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• pp.1657-1663
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• 2019

Objective: A genome-based best linear unbiased prediction (GBLUP) method was applied to evaluate accuracies of genomic estimated breeding value (GEBV) of carcass and reproductive traits in Berkshire, Duroc and Yorkshire populations in Korean swine breeding farms. Methods: The data comprised a total of 1,870, 696, and 1,723 genotyped pigs belonging to Berkshire, Duroc and Yorkshire breeds, respectively. Reference populations for carcass traits consisted of 888 Berkshire, 466 Duroc, and 1,208 Yorkshire pigs, and those for reproductive traits comprised 210, 154, and 890 dams for the respective breeds. The carcass traits analyzed were backfat thickness (BFT) and carcass weight (CWT), and the reproductive traits were total number born (TNB) and number born alive (NBA). For each trait, GEBV accuracies were evaluated with a GEBV BLUP model and realized GEBVs. Results: The accuracies under the GBLUP model for BFT and CWT ranged from 0.33-0.72 and 0.33-0.63, respectively. For NBA and TNB, the model accuracies ranged 0.32 to 0.54 and 0.39 to 0.56, respectively. The realized accuracy estimates for BFT and CWT ranged 0.30 to 0.46 and 0.09 to 0.27, respectively, and 0.50 to 0.70 and 0.70 to 0.87 for NBA and TNB, respectively. For the carcass traits, the GEBV accuracies under the GBLUP model were higher than the realized GEBV accuracies across the breed populations, while for reproductive traits the realized accuracies were higher than the model based GEBV accuracies. Conclusion: The genomic prediction accuracy increased with reference population size and heritability of the trait. The GEBV accuracies were also influenced by GEBV estimation method, such that careful selection of animals based on the estimated GEBVs is needed. GEBV accuracy will increase with a larger sized reference population, which would be more beneficial for traits with low heritability such as reproductive traits.

• Animal Bioscience
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• 제36권7호
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• pp.1003-1009
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• 2023

Objective: The objective was to compare (pedigree-based) best linear unbiased prediction (BLUP), genomic BLUP (GBLUP), and single-step GBLUP (ssGBLUP) methods for genomic evaluation of growth traits in a Mexican Braunvieh cattle population. Methods: Birth (BW), weaning (WW), and yearling weight (YW) data of a Mexican Braunvieh cattle population were analyzed with BLUP, GBLUP, and ssGBLUP methods. These methods are differentiated by the additive genetic relationship matrix included in the model and the animals under evaluation. The predictive ability of the model was evaluated using random partitions of the data in training and testing sets, consistently predicting about 20% of genotyped animals on all occasions. For each partition, the Pearson correlation coefficient between adjusted phenotypes for fixed effects and non-genetic random effects and the estimated breeding values (EBV) were computed. Results: The random contemporary group (CG) effect explained about 50%, 45%, and 35% of the phenotypic variance in BW, WW, and YW, respectively. For the three methods, the CG effect explained the highest proportion of the phenotypic variances (except for YW-GBLUP). The heritability estimate obtained with GBLUP was the lowest for BW, while the highest heritability was obtained with BLUP. For WW, the highest heritability estimate was obtained with BLUP, the estimates obtained with GBLUP and ssGBLUP were similar. For YW, the heritability estimates obtained with GBLUP and BLUP were similar, and the lowest heritability was obtained with ssGBLUP. Pearson correlation coefficients between adjusted phenotypes for non-genetic effects and EBVs were the highest for BLUP, followed by ssBLUP and GBLUP. Conclusion: The successful implementation of genetic evaluations that include genotyped and non-genotyped animals in our study indicate a promising method for use in genetic improvement programs of Braunvieh cattle. Our findings showed that simultaneous evaluation of genotyped and non-genotyped animals improved prediction accuracy for growth traits even with a limited number of genotyped animals.

• 한국작물학회:학술대회논문집
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• 한국작물학회 2022년도 추계학술대회
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• pp.235-235
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• 2022

Genome selection is a promising tool for plant and animal breeding, which uses genome-wide molecular marker data to capture large and small effect quantitative trait loci and predict the genetic value of selection candidates. Genomic selection has been shown previously to have higher prediction accuracies than conventional marker-assisted selection (MAS) for quantitative traits. In this study, the prediction accuracy of 10 agricultural traits in the wheat core group with 567 points was compared. We used a cross-validation approach to train and validate prediction accuracy to evaluate the effects of training population size and training model.As for the prediction accuracy according to the model, the prediction accuracy of 0.4 or more was evaluated except for the SVN model among the 6 models (GBLUP, LASSO, BayseA, RKHS, SVN, RF) used in most all traits. For traits such as days to heading and days to maturity, the prediction accuracy was very high, over 0.8. As for the prediction accuracy according to the training group, the prediction accuracy increased as the number of training groups increased in all traits. It was confirmed that the prediction accuracy was different in the training population according to the genetic composition regardless of the number. All training models were verified through 5-fold cross-validation. To verify the prediction ability of the training population of the wheat core collection, we compared the actual phenotype and genomic estimated breeding value using 35 breeding population. In fact, out of 10 individuals with the fastest days to heading, 5 individuals were selected through genomic selection, and 6 individuals were selected through genomic selection out of the 10 individuals with the slowest days to heading. Therefore, we confirmed the possibility of selecting individuals according to traits with only the genotype for a shorter period of time through genomic selection.

• Genomics & Informatics
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• 제21권3호
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• pp.31.1-31.8
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• 2023

Multiple myeloma (MM) is a hematological malignancy. It is widely believed that genetic factors play a significant role in the development of MM, as investigated in numerous studies. However, the application of genomic information for clinical purposes, including diagnostic and prognostic biomarkers, remains largely confined to research. In this study, we utilized genetic information from the Genomic-Driven Clinical Implementation for Multiple Myeloma database, which is dedicated to clinical trial studies on MM. This genetic information was sourced from the genome-wide association studies catalog database. We prioritized genes with the potential to cause MM based on established annotations, as well as biological risk genes for MM, as potential drug target candidates. The DrugBank database was employed to identify drug candidates targeting these genes. Our research led to the discovery of 14 MM biological risk genes and the identification of 10 drugs that target three of these genes. Notably, only one of these 10 drugs, panobinostat, has been approved for use in MM. The two most promising genes, calcium signal-modulating cyclophilin ligand (CAMLG) and histone deacetylase 2 (HDAC2), were targeted by four drugs (cyclosporine, belinostat, vorinostat, and romidepsin), all of which have clinical evidence supporting their use in the treatment of MM. Interestingly, five of the 10 drugs have been approved for other indications than MM, but they may also be effective in treating MM. Therefore, this study aimed to clarify the genomic variants involved in the pathogenesis of MM and highlight the potential benefits of these genomic variants in drug discovery.

• Asian-Australasian Journal of Animal Sciences
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• 제27권7호
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• pp.926-931
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• 2014

Pork from Jeju black pig (population J) and Berkshire (population B) has a unique market share in Korea because of their high meat quality. Due to the high demand of this pork, traceability of the pork to its origin is becoming an important part of the consumer demand. To examine the feasibility of such a system, we aim to provide basic genetic information of the two black pig populations and assess the possibility of genetically distinguishing between the two breeds. Muscle samples were collected from slaughter houses in Jeju Island and Namwon, Chonbuk province, Korea, for populations J and B, respectively. In total 800 Jeju black pigs and 351 Berkshires were genotyped at thirteen microsatellite (MS) markers. Analyses on the genetic diversity of the two populations were carried out in the programs MS toolkit and FSTAT. The population structure of the two breeds was determined by a Bayesian clustering method implemented in structure and by a phylogenetic analysis in Phylip. Population J exhibited higher mean number of alleles, expected heterozygosity and observed heterozygosity value, and polymorphism information content, compared to population B. The $F_{IS}$ values of population J and population B were 0.03 and -0.005, respectively, indicating that little or no inbreeding has occurred. In addition, genetic structure analysis revealed the possibility of gene flow from population B to population J. The expected probability of identify value of the 13 MS markers was $9.87{\times}10^{-14}$ in population J, $3.17{\times}10^{-9}$ in population B, and $1.03{\times}10^{-12}$ in the two populations. The results of this study are useful in distinguishing between the two black pig breeds and can be used as a foundation for further development of DNA markers.

• 대한약리학회지
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• 제24권1호
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• pp.1-10
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• 1988

카테콜아민 생합성에 관여하는 마지막 효소인 phenylethanolamine N-methyltransferase는 Norepinephrine을 epinephrine으로 전환시키는 중요한 효소이다. PNMT효소의 발현은 epinephrine 신경세포의 발현에 필수적이다. 따라서 PNMT유전자를 크로닝하여 그 구조를 결정하고, 유전자 발현연구를 하는 것은 상당히 중요한 일이다. 그러나 최근에 저자가 bovine cDNA를 처음으로 분리하여 그 구조를 보고한 것 외에는 아직까지 인간 PNMT cDNA나, 전체 genomic DNA의 분리 보고는 없다. 이에 저자들은 인간 PNMT유전자의 전체구조와 여러 종(species) 사이의 진화적인 관계를 규명하기 위해서 human genomic library(Charon 4A)를 만들고, 이 library 이용하여 bovine cDNA를 probe로 13.1 Kb길이의 genomic clone을 분리 크로닝하는데 성공하였다. 이 유전자는 두개의 EcoRI site가 포함되어 있어서, EcoRI제한효소에 의해서 7.5 Kb, 5.0 Kb,0.6 Kb로 분리되었으며, Southern과 dot blot 실험 에서 보면 5.0 Kb와 0.6 Kb에 exon이 흩어져 존재하고 있으며, 7.5 Kb는 flanking sequence로 판명되었다.

• Journal of Nutrition and Health
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• 제40권1호
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• pp.14-23
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• 2007

Elevated plasma homocysteine (Hcy) is a risk factor for cognitive dysfunction and Alzheimer disease, although the mechanism is still unknown. Both folate and betaine, a choline metabolite, play essential roles in the remethylation of Hcy to methionine. Choline deficiency may be associated with low folate status and high plasma Hcy. Alterations in DNA methylation also have established critical roles for methylation in development of the nervous system. This study was undertaken to assess the effect of choline and folate deficiency on Hcy metabolism and genomic DNA methylation status of the liver and brain. Groups of adult male Sprague Dawley rats were fed on a control, choline-deficient (CD), folate-deficient (FD) or choline/folate-deficient (CFD) diets for 8 weeks. FD resulted in a significantly lower hepatic folate (23%) (p<0.001) and brain folate (69%) (p<0.05) compared to the control group. However, plasma and brain folate remained unaltered by CD and hepatic folate reduced to 85% of the control by CD (p<0.05). Plasma Hcy was significantly increased by FD $(18.34{\pm}1.62{\mu}M)$ and CFD $(19.35{\pm}3.62{\mu}M)$ compared to the control $(6.29{\pm}0.60{\mu}M)$ (p<0.001), but remained unaltered by CD. FD depressed S-adenosylmethionine (SAM) by 59% (p<0.001) and elevated S-adenosylhomocysteine (SAM) by 47% in liver compared to the control group (p<0.001). In contrast, brain SAM levels remained unaltered in CD, FD and CFD rats. Genomic DNA methylation status was reduced by FD in liver (p<0.05) Genomic DNA hypomethylation was also observed in brain by CD, FD and CFD although it was not significantly different from the control group. Genomic DNA methylation status was correlated with folate stores in liver (r=-0.397, p<0.05) and brain (r = -0.390, p<0.05), respectively. In conclusion, our data demonsoated that genomic DNA methylation and SAM level were reduced by folate deficiency in liver, but not in brain, and correlated with folate concentration in the tissue. The fact that folate deficiency had differential effects on SAM, SAH and genomic DNA methylation in liver and brain suggests that the Hcy metabolism and DNA methylation are regulated in tissue-specific ways.

• Genomics & Informatics
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• 제6권1호
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• pp.18-28
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• 2008

Single nucleotide polymorphisms (SNPs) are the most abundant forms of human genetic variations and resources for mapping complex genetic traits and disease association studies. We have constructed a linkage disequilibrium (LD) map of chromosome 22 in Korean samples and compared it with those of other populations, including Yorubans in Ibadan, Nigeria (YRI), Centre d'Etude du Polymorphisme Humain (CEPH) reference families (CEU), Japanese in Tokyo (JPT) and Han Chinese in Beijing (CHB) in the HapMap database. We genotyped 4681 of 111,448 publicly available SNPs in 90 unrelated Koreans. Among genotyped SNPs, 4167 were polymorphic. Three hundred and five LD blocks were constructed to make up 18.6% (6.4 of 34.5 Mb) of chromosome 22 with 757 tagSNPs and 815 haplotypes (frequency $\geq$ 5.0%). Of 3430 common SNPs genotyped in all five populations, 514 were monomorphic in Koreans. The CHB + JPT samples have more than a 72% overlap with the monomorphic SNPs in Koreans, while the CEU + YRI samples have less than a 38% overlap. The patterns of hot spots and LD blocks were dispersed throughout chromosome 22, with some common blocks among populations, highly concordant between the three Asian samples. Analysis of the distribution of chimpanzee-derived allele frequency (DAF), a measure of genetic differentiation, Fst levels, and allele frequency difference (AFD) among Koreans and the HapMap samples showed a strong correlation between the Asians, while the CEU and YRI samples showed a very weak correlation with Korean samples. Relative distance as a quantitative measurement based upon DAF, Fst, and AFD indicated that all three Asian samples are very proximate, while CEU and YRI are significantly remote from the Asian samples. Comparative genome-wide LD studies provide useful information on the association studies of complex diseases.

• Restorative Dentistry and Endodontics
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• 제20권2호
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• pp.645-654
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• 1995

Porphyromonas endodontalis is a black-pigmented anaerobic Gram negative rod which is associated with endodontal infections. It has been isolated from infected dental root canals and submucous abscesses of endodontal origin. DNA probe is an available alternative, offering the direct detection of a specific microorganism. Nucleic-acid probes can be off different types: whole different: whole-genomic, cloned or oligonucleotide probes. Wholegenomic probes are the most sensitive because the entire genome is used for possible hybridization sites. However, as genetically similar species of bacteria are likely to be present in specimences, cross-reactions need to be considered. Cloned probes are isolated sequences of DNA that do not show cross-reactivity and are produced in quantity by cloning in a plasmid vector. Cloned probes can approach the sensitivity found with whole-genomic probes while avoiding known cross-reacting species. Porphyromonas endodontalis ATCC 35406 (serotype $O_1K_1$) was selected in this experiment to develop specific cloned DNA probes. EcoR I-digested genomic DNA fragments of P. endodontalis ATCC 35406 were cloned into pUC18 plasmid vector. From the E. coli transformed with the recombinant plasmid 4 clones were selected to be tested as specific DNA probes. Restriction-digested whole-genomic DNAs prepared from P. gingivalis 38(serotype a), W50(serotype b), A7A1-28(serotype C), P. intermedia 9336(serotype b), G8-9K-3(serotype C), P. endodontalis ATCC 35406(serotype $O_1K_1$), A. a Y4(serotype b), 75(serotype a), 67(serotype c), were each seperated on agarose gel electrophoresis, blotted on nylon membranes, and were hybridized with digoxigenin-dUTP labeled probe. The results were as follows: 1. Three clones of 1.6kb(probe e), 1.6kb(probe f), and 0.9kb(probe h) in size, were obtained. These clones were identified to be a part of the genomic DNA of P. endodontalis ATCC 35406 judging from their specific hybridization to the genomic DNA fragments of their own size on Southern blot. 2. The clones of 4.9kb(probe i) was identified to be a part of the genomic DNA of P. endodontalis ATCC 35406. but not to specific for itself. It was hybridized to P. gingivalis A7A1-28, P. intermedia G89K-3.

• 미생물학회지
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• 제54권3호
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• pp.188-199
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• 2018

다양한 미생물학 연구 분야의 발전에 힘입어 유전체역학은 발전되어 왔다. 예를 들어, 대용량서열화 기술의 발전으로 미생물 유전체의 수는 급속도로 증가해 오고 있다. 이러한 풍부한 유전체 데이터는 전에는 보지 못한 보다 더 정확한 미생물종의 동정에 도움을 주는 균주종 타이핑에 새로운 기회를 제공한다. 유전체역학은 유전체에 일반적인 유전자를 찾고 표기하는 것 뿐만 아니라 항균 저항성 유전자를 찾을 수 있다. 균주종 타이핑과 항균 저항성 유전자 찾기는 각각 종을 구분하고 유전체내의 유전자 위치를 결정하는 유전체 역학의 방법들로 시간에 따른 변화가 없는 측면이다. 이에 반하여, 하나의 숙주가 어떤 숙주를 감염시켰는지 알아내기 위해서는 감염된 숙주들 사이의 시간에 따른 동적인 전염 경로를 추론해야 한다. 이렇게, 균주종 타이핑, 항균 저항성 유전자 찾기, 전염 계통수 추론을 통하여 유전체역학의 궁극적인 목표 중 하나인 미생물성 전염병을 보다 효율적으로 감시할 수 있을 것으로 기대된다. 그리고, 대용량서열화 기술 중, 3세대 서열화기술 중 하나인 옥스포드 나노포어 MinION의 보다 나은 휴대성과 빠른 서열화의 성능 덕분에 유전체역학은 더 많은 발전을 거듭할 것으로 보인다. 이에, 본 연구는 항균 저항성 유전자를 찾고 전염병 경로를 추론하는 계산적인 방법에 대하여 살펴보고, 미생물 유전체역학에서 MinION이 응용된 예들에 대하여 논하였다.