• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.17-17
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• 2022

Leaves are an important organism for photosynthesis and transpiration. The shape of leaf is crucial factor affecting plant architecture. V-shape leaf rolling is enhancing canopy photosynthesis by increasing the CO₂ penetration and the light capture by reducing the shadow between the leaves. Therefore, moderate leaf rolling is thought to more high grain yield per area than flat leaf. We investigated 278 KRICE_CORE accession's Adaxial Leaf Rolling Index (LRI) in first heading using the following equation. For each accession, genomic DNA was used for sequencing. We sequenced the genomics with ~8 X coverage to detect SNPS. Raw reads were aligned against the rice reference (IRGSP 1.0) for SNP identification and genotype calling. To generate genotype data for GWAS, SNPs were filtered with minor allele frequency 0.05. Finally, 841,134 high-quality SNPs were used for our GWAS. The significant threshold was -log10(P)>7.23. From the results, 2 significance SNP were detected. Considering the LD block of 250kbp, 60 candidate gene were selected including Hypothetical gene and Conserved gene. In this poster, we analyzed candidate gene affecting adaxial Leaf Rolling through single-trait GWAS.

• Proceedings of the Korean Society of Crop Science Conference
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• 2022.10a
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• pp.243-243
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• 2022

Leaves are an important organism for photosynthesis and transpiration. The shape of leaf is crucial factor affecting plant architecture. V-shape leaf rolling is enhancing canopy photosynthesis by increasing the CO₂ penetration and the light capture by reducing the shadow between the leaves. Therefore, moderate leaf rolling is thought to more high grain yield per area than flat leaf. We investigated 278 KRICE CORE accession's Adaxial Leaf Rolling Index (LRI) in first heading using the following equation. For each accession, genomic DNA was used for sequencing. We sequenced the genomics with ~8 X coverage to detect SNPS. Raw reads were aligned against the rice reference (IRGSP 1.0) for SNP identification and genotype calling. To generate genotype data for GWAS, SNPs were filtered with minor allele frequency 0.05. Finally, 841,134 high-quality SNPs were used for our GWAS. The significant threshold was -log10(P) >7.23. From the results, 2 significance SNP were detected. Considering the LD block of 250kbp, 60 candidate gene were selected including Hypothetical gene and Conserved gene. In this poster, we analyzed candidate gene affecting adaxial Leaf Rolling through single-trait GWAS.

• Anatomy and Cell Biology
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• v.56 no.1
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• pp.54-60
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• 2023

Lactase non-persistence (LNP), one of the causes of lactose intolerance, is related to lactase gene associated single nucleotide polymorphisms (SNPs). Since the frequency of LNP varies by ethnic group and country, the research to reveal the presence or absence of LNP for specific people has been conducted worldwide. However, in East Asia, the study of lactase gene associated SNPs have not been sufficiently examined so far using ancient human specimens from archaeological sites. In our study of Joseon period human remains (n=14), we successfully revealed genetic information of lactase gene associated SNPs (rs1679771596, rs41525747, rs4988236, rs4988235, rs41380347, rs869051967, rs145946881 and rs182549), further confirming that as for eight SNPs, the pre-modern Korean people had a lactase non-persistent genotype. Our report contributes to the establishment of LNP associated SNP analysis technique that can be useful in forthcoming studies on human bones and mummy samples from East Asian archaeological sites.

• Genomics & Informatics
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• v.15 no.4
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• pp.170-177
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• 2017

HOTAIR is an lncRNA that has been known to have an oncogenic role in different cancers. There is limited knowledge of genetic and epigenetic elements and their interactions for the gene encoding HOTAIR. Therefore, understanding the molecular mechanism and its regulation remains to be challenging. We used different in silico analyses to find genetic and epigenetic elements of HOTAIR gene to gain insight into its regulation. We reported different regulatory elements including canonical promoters, transcription start sites, CpGIs as well as epigenetic marks that are potentially involved in the regulation of HOTAIR gene expression. We identified repeat sequences and single nucleotide polymorphisms that are located within or next to the CpGIs of HOTAIR. Our analyses may help to find potential interactions between genetic and epigenetic elements of HOTAIR gene in the human tissues and show opportunities and limitations for researches on HOTAIR gene in future studies.

• Proceedings of the KSAR Conference
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• 2004.06a
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• pp.193-193
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• 2004

Gene targeting is an in situ manipulation of endogenous gene with precise manner by the introduction of exogenous DNA. The process of gene targeting involves a homologous recombination reaction between the targeted genomic sequence and an exogenous targeting vector. In elucidating the function of many genes, gene targeting has become the most important method of choice. (omitted)

• The Korean Journal of Applied Statistics
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• v.24 no.2
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• pp.315-321
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• 2011

Gene expression microarray data often include multiple missing values. Most gene expression analysis (including gene clustering analysis); however, require a complete data matric as an input. In ordinary clustering methods, just a single missing value makes one abandon the whole data of a gene even if the rest of data for that gene was intact. The quality of analysis may decrease seriously as the missing rate is increased. In the opposite aspect, the imputation of missing value may result in an artifact that reduces the reliability of the analysis. To clarify this contradiction in microarray clustering analysis, this paper compared the accuracy of clustering with and without imputation over several microarray data having different missing rates. This paper also tested the clustering efficiency of several imputation methods including our propose algorithm. The results showed it is worthwhile to check the clustering result in this alternative way without any imputed data for the imperfect microarray data.

• 대한생식의학회:학술대회논문집
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• 2006.06a
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• pp.151.2-151.2
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• 2006

• Genomics & Informatics
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• v.14 no.4
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• pp.166-172
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• 2016

Although a large number of genetic variants have been identified to be associated with common diseases through genome-wide association studies, there still exits limitations in explaining the missing heritability. One approach to solving this missing heritability problem is to investigate gene-gene interactions, rather than a single-locus approach. For gene-gene interaction analysis, the multifactor dimensionality reduction (MDR) method has been widely applied, since the constructive induction algorithm of MDR efficiently reduces high-order dimensions into one dimension by classifying multi-level genotypes into high- and low-risk groups. The MDR method has been extended to various phenotypes and has been improved to provide a significance test for gene-gene interactions. In this paper, we propose a simple method, called accelerated failure time (AFT) UM-MDR, in which the idea of a unified model-based MDR is extended to the survival phenotype by incorporating AFT-MDR into the classification step. The proposed AFT UM-MDR method is compared with AFT-MDR through simulation studies, and a short discussion is given.

• BMB Reports
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• v.55 no.6
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• pp.251-258
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• 2022

Innovative genome editing techniques developed in recent decades have revolutionized the biomedical research field. Liver is the most favored target organ for genome editing owing to its ability to regenerate. The regenerative capacity of the liver enables ex vivo gene editing in which the mutated gene in hepatocytes isolated from the animal model of genetic disease is repaired. The edited hepatocytes are injected back into the animal to mitigate the disease. Furthermore, the liver is considered as the easiest target organ for gene editing as it absorbs almost all foreign molecules. The mRNA vaccines, which have been developed to manage the COVID-19 pandemic, have provided a novel gene editing strategy using Cas mRNA. A single injection of gene editing components with Cas mRNA is reported to be efficient in the treatment of patients with genetic liver diseases. In this review, we first discuss previously reported gene editing tools and cases managed using them, as well as liver diseases caused by genetic mutations. Next, we summarize the recent successes of ex vivo and in vivo gene editing approaches in ameliorating liver diseases in animals and humans.

• Toxicological Research
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• v.17
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• pp.289-292
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• 2001

Gene targeting allows precise, predetermined changes to be made in a chosen gene in the mouse genome. To date, targeting has been used most often for generation of animals completely lacking the product of a gene of interest. Models of essential hypertension have been produced by mutated genes relating renin angiotensin system. The most significant contribution to understanding the genetic etiology of essential hypertension is probably the demonstration that discrete alterations in the expression of a variety of different genes can individually cause changes in the blood pressures of mice, even when the mice have all their compensatory mechanisms intact. These effects are readily detected in animals having moderate decreases in gene function due to heterozygosity for gene disruptions or modest increases due to gene duplication. As a species the mouse is highly resistant to atherosclerosis. However. through induced mutations it has been possible to develop lines oj mice that are deficient in apolipoprotein E, a ligand important in lipoprotein clearance, develop atherosclerotic lesions resembling those observed in humans. The atherosclerotic lesions in apoE-deficient mice have been well characterized, and they resemble human lesions in their sites of predilection and progression to the fibroproliferative stage. Other promising models are mice that are deficient in the low-density lipoprotein receptor. Considerable work still remains to be done in dissecting out in a rigorous manner the effects of alterations in single genes on the induction or progression of atherosclerosis and on the control of blood pressures. Perhaps even more exciting is the opportunity now becoming available to breed animals in which the effects oj precise differences in more than one gene can be studied in combination.