• Plant Breeding and Biotechnology
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• v.6 no.4
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• pp.354-362
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• 2018

Maize has high food and industrial value, whereas has difficulties in research because of their complex and huge size genome. Nested association mapping (NAM) was constructed to better understand maize genetics. However, most studies were conducted using the reference genome B73, and only a few studies were conducted on tropical maize. Ki3, one of the founder lines of the NAM population, is a tropical maize. We analyzed the genetic characteristics of Ki3 by using RNA sequencing and bioinformatics tools for various genetic studies. As results, a total of 30,526 genes were expressed, and expression profile were constructed. A total of 1,558 genes were differentially expressed in response to drought stress, and 513 contigs of them come from de novo assemblies. In addition, high-density polymorphisms including 464,930 single nucleotide polymorphisms (SNPs), 21,872 multiple nucleotide polymorphisms (MNPs) and 93,313 insertions and deletions (InDels) were found compared to reference genome. Among them, 15.0 % of polymorphisms (87,838) were passed non-synonymous test which could alter amino acid sequences. The variants have 66,550 SNPs, 5,853 MNPs, and 14,801 InDels, also proportion of homozygous type was higher than heterozygous. These variants were found in a total of 15,643 genes. Of these genes, 637 genes were found as differentially expressed genes (DEGs) under drought stress. Our results provide a genome-wide analysis of differentially expressed genes and information of variants on expressed genes of tropical maize under drought stress. Further characterization of these changes in genetic regulation and genetic traits will be of great value for improvement of maize genetics.

• Animal Bioscience
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• v.35 no.12
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• pp.1827-1838
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• 2022

Objective: The semen quality of stallions including sperm motility is an important target of selection as it has a high level of individual variability. However, effects of the molecular architecture of the genome on the mechanisms of sperm formation and their preservation after thawing have been poorly investigated. Here, we conducted a genome-wide association study (GWAS) for the sperm motility of cryopreserved semen in stallions of various breeds. Methods: Semen samples were collected from the stallions of 23 horse breeds. The following semen characteristics were examined: progressive motility (PM), progressive motility after freezing (FPM), and the difference between PM and FPM. The respective DNA samples from these stallions were genotyped using Axiom Equine Genotyping Array. Results: We performed a GWAS search for single nucleotide polymorphism (SNP) markers and potential genes related to motility properties of frozen-thawed semen in the stallions of various breeds. As a result of the GWAS analysis, two SNP markers, rs1141327473 and rs1149048772, were identified that were associated with preservation of the frozen-thawed stallion sperm motility, the relevant putative candidate genes being NME/NM23 family member 8 (NME8), olfactory receptor family 2 subfamily AP member 1 (OR2AP1), and olfactory receptor family 6 subfamily C member 4 (OR6C4). Potential implications of effects of these genes on sperm motility are herein discussed. Conclusion: The GWAS results enabled us to localize novel SNPs and candidate genes for sperm motility in stallions. Implications of the study for horse breeding and genetics are a better understanding of genomic regions and candidate genes underlying stallion sperm quality, and improvement in horse reproduction and breeding techniques. The identified markers and genes for sperm cryotolerance and the respective genomic regions are promising candidates for further studying the biological processes in the formation and function of the stallion reproductive system.

• Genomics & Informatics
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• v.12 no.4
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• pp.181-186
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• 2014

Genome-wide association studies have proven the highly polygenic architecture of complex diseases or traits; therefore, single-locus-based methods are usually unable to detect all involved loci, especially when individual loci exert small effects. Moreover, the majority of associated single-nucleotide polymorphisms resides in non-coding regions, making it difficult to understand their phenotypic contribution. In this work, we studied epistatic interactions associated with three common diseases using Korea Association Resource (KARE) data: type 2 diabetes mellitus (DM), hypertension (HT), and coronary artery disease (CAD). We showed that epistatic single-nucleotide polymorphisms (SNPs) were enriched in enhancers, as well as in DNase I footprints (the Encyclopedia of DNA Elements [ENCODE] Project Consortium 2012), which suggested that the disruption of the regulatory regions where transcription factors bind may be involved in the disease mechanism. Accordingly, to identify the genes affected by the SNPs, we employed whole-genome multiple-cell-type enhancer data which discovered using DNase I profiles and Cap Analysis Gene Expression (CAGE). Assigned genes were significantly enriched in known disease associated gene sets, which were explored based on the literature, suggesting that this approach is useful for detecting relevant affected genes. In our knowledge-based epistatic network, the three diseases share many associated genes and are also closely related with each other through many epistatic interactions. These findings elucidate the genetic basis of the close relationship between DM, HT, and CAD.

• The Journal of the Korea Contents Association
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• v.22 no.2
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• pp.762-769
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• 2022

Genetic testing in prenatal diagnosis is a precious tool providing valuable information in clinical management and parental decision-making. For the last year, cytogenetic testing methods, such as G-banding karyotype analysis, fluorescent in situ hybridization, chromosomal microarray, and gene panels have evolved to become part of routine laboratory testing. However, the limitations of each of these methods demonstrate the need for a revolutionary technology that can alleviate the need for multiple technologies. The recent introduction of new genomic technologies based on next-generation sequencing has changed the current practice of prenatal testing. The promise of these innovations lies in the fast and cost-effective generation of genome-scale sequence data with exquisite resolution and accuracy for prenatal diagnosis. Here, we review the current state of sequencing-based pediatric diagnostics, associated challenges, as well as future prospects.

• Genomics & Informatics
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• v.8 no.3
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• pp.108-115
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• 2010

Hypertension is the most prevalent disease worldwide and is itself a risk factor for cerebral, cardiac, and renal diseases. The inconsistency of candidate genes suggested by previous genomewide association studies (GWASs) may be due to not only differences in study design and genetic or environmental background but also the difference in the power of analysis between continuous traits and discrete traits. We analyzed 352,228 single nucleotide polymorphisms (SNPs) in 8842 unrelated Koreans obtained from Ansan and Ansung cohorts. We performed a series of GWA analyses using three different phenotype models; young hypertensive cases (278 subjects) versus elderly normotensive controls (680 subjects); the upper 25% (2211 hypertensive cases) versus the lower 25% of the SBP distribution (2211 hypotensive controls); and finally SBP and DBP as continuous traits (8842 subjects). The numbers of young hypertensive cases and elderly normotensive controls were not large enough to achieve genomewide significance. The model comparing the upper 25% subjects to the lower 25% of subjects showed a power that was approximate to that of QTL analysis. Two neighboring SNPs of the ATP2B1 gene, rs17249754 (SBP, p=$2.53^{-10}$; DBP, p=$1.28{\times}10^{-8}$) and rs7136259 (SBP, p=$1.30{\times}10^{-9}$; DBP, p=$6.41{\times}10^{-8}$), were associated with both SBP and DBP. Interestingly, a SNP of the RPL6 gene, rs11066280, revealed a significant genomewide association with SBP in men only (p=$3.85{\times}10^{-8}$), and four SNPs located near the MAN2A1 gene showed a strong association with DBP only in elderly men aged 60-70 years (e.g., rs6421827, p=$4.86{\times}10^{-8}$). However, we did not observe any gene variant attaining genomewide significance consistently in the three phenotype models except for the ATP2B1 gene variants. In general, the association signal with blood pressure was stronger in women than in men. Genes identified in GWASs are expected to open the way for prevention, early diagnosis, and personalized treatment of hypertension.

• Asian-Australasian Journal of Animal Sciences
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• v.16 no.8
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• pp.1087-1092
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• 2003

As an experimental reference population, crosses between Korean native pig and Landraces were established and information on growth traits was recorded. Animals were genotyped for 24 microsatellite markers covering chromosomes 2, 6, and 7 for partial-genome scan to identify chromosomal regions that have effects on growth traits. quantitative trait loci (QTL) effects were estimated using interval mapping by the regression method under the line cross models with a test for imprinting effects. For test of presence of QTL, chromosome-wide and single position significance thresholds were estimated by permutation test and normal significance threshold for the imprinting test were derived. For tests against the Mendelian model, additive and dominance coefficients were permuted within individuals. Thresholds (5% chromosome-wide) against the no-QTL model for the analyzed traits ranged from 4.57 to 4.99 for the Mendelian model and from 4.14 to 4.67 for the imprinting model, respectively. Partial-genome scan revealed significant evidence for 4 QTL affecting growth traits, and 2 out of the 4 QTLs were imprinted. This study demonstrated that testing for imprinting should become a standard procedure to unravel the genetic control of multi-factorial traits. The models and tests developed in this study allowed the detection and evaluation of imprinted QTL.

• Asian-Australasian Journal of Animal Sciences
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• v.27 no.10
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• pp.1381-1386
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• 2014

In spite of variation in coat color, size, and production traits among indigenous Bangladeshi cattle populations, genetic differences among most of the populations have not been investigated or exploited. In this study, we used a high-density bovine single nucleotide polymorphism (SNP) 80K Bead Chip derived from Bos indicus breeds to assess genetic diversity and population structure of 2 Bangladeshi zebu cattle populations (red Chittagong, n = 28 and non-descript deshi, n = 28) and a semi-domesticated population (gayal, n = 17). Overall, 95% and 58% of the total SNPs (69,804) showed polymorphisms in the zebu and gayal populations, respectively. Similarly, the average minor allele frequency value was as high 0.29 in zebu and as low as 0.09 in gayal. The mean expected heterozygosity varied from $0.42{\pm}0.14$ in zebu to $0.148{\pm}0.14$ in gayal with significant heterozygosity deficiency of 0.06 ($F_{IS}$) in the latter. Coancestry estimations revealed that the two zebu populations are weakly differentiated, with over 99% of the total genetic variation retained within populations and less than 1% accounted for between populations. Conversely, strong genetic differentiation ($F_{ST}=0.33$) was observed between zebu and gayal populations. Results of population structure and principal component analyses suggest that gayal is distinct from Bos indicus and that the two zebu populations were weakly structured. This study provides basic information about the genetic diversity and structure of Bangladeshi cattle and the semi-domesticated gayal population that can be used for future appraisal of breed utilization and management strategies.

• Journal of IKEEE
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• v.26 no.3
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• pp.494-499
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• 2022

It is reported that genome-wide RNA-seq profiles has potential as biomarkers of aging. A number of researches achieved promising prediction performance based on gene expression profiles. We develop an age prediction method based on the transcriptome of human dermal fibroblasts by selecting a proper age interval. The proposed method executes multiple rules in a sequential manner and a rule utilizes a classifier and a regression model to determine whether a given test sample belongs to the target age interval of the rule. If a given test sample satisfies the selection condition of a rule, age is predicted from the associated target age interval. Our method predicts age to a mean absolute error of 5.7 years. Our method outperforms prior best performance of mean absolute error of 7.7 years achieved by an ensemble based prediction method. We observe that it is possible to predict age based on genome-wide RNA-seq profiles but prediction performance is not stable but varying with age.

• BMB Reports
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• v.48 no.5
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• pp.243-248
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• 2015

Mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common cause of familial Parkinson's disease (PD). As such, functions and dysfunctions of LRRK2 in PD have been the subject of extensive investigation. In addition to PD, increasing evidence is suggesting that LRRK2 is associated with a wide range of diseases. Genome-wide association studies have implicated LRRK2 in Crohn's disease (CD) and leprosy, and the carriers with pathogenic mutations of LRRK2 show increased risk to develop particular types of cancer. LRRK2 mutations are rarely found in Alzheimer's disease (AD), but LRRK2 might play a part in tauopathies. The association of LRRK2 with the pathogenesis of apparently unrelated diseases remains enigmatic, but it might be related to the yet unknown diverse functions of LRRK2. Here, we reviewed current knowledge on the link between LRRK2 and several diseases, including PD, AD, CD, leprosy, and cancer, and discussed the possibility of targeting LRRK2 in such diseases. [BMB Reports 2015; 48(5): 243-248]

• 한국균학회소식:학술대회논문집
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• 2015.05a
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• pp.29-29
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• 2015

Clubroot disease is caused by the soil-born obligate plant pathogen Plasmodiophora brassicae. This pathogen can infect all cruciferous vegetables and oil crops, including Brassica rapa, B. oleracea, B. napus, and other Brassica species. Clubroot disease is now considered to be a major problem in Chinese cabbage production in China, Korea, and Japan. We collected several hundreds of P. brassicae infected galls from Korea, and isolated the single spore from the collection. For establishment of novel isolation, and mass-propagation methods for singe spore isolates of P. brassicae pathogen, we developed new filtration method using both cellulose nitrate filter and syringe filter. Accurate detection of P. brassicae pathogen in the field was done by using real-time PCR in the potential infested soil. When we tested the different pathogenicity on commercial Chinese cabbage varieties, P. brassicae from collected galls showed various morphological patterns about clubroot symptom on roots. To date, 8 CR loci have been identified in the B. rapa genome using the quantitative trait loci (QTL) mapping approach, with different resistant sources and isolates. We are trying to develop the molecular marker systems for detect all 8 CR resistant genes. Especially for the study on the interaction between pathogens and CR loci which are not well understood until now, genome wide association studies are doing using the sequenced inbred lines of Chinese cabbage to detect the novel CR genes.