• 한국환경성돌연변이발암원학회:학술대회논문집
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• 한국환경성돌연변이발암원학회 2004년도 춘계학술대회
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• pp.27-29
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• 2004

Drug transporters play an essential role in the absorption, distribution and elimination of clinical drugs, nutrients and toxicants. The importance of the transporters is exampled by therapeutic failure in cancer chemotherapy that is mainly caused by the overexpression of multidrug resistance (MDR)-related transporters. In addition, the transporters may involve in drug-drug interactions that lead to serious adverse drug responses and some transporters also contribute to inter-individual variation in drug responses. As an effort to understand the mechanism underlying the inter-individual variation of transporters activity, genetic and environmental factors influencing the expression or function of the transporters have extensively explored through last decade. Among them, genetic polymorphism of drug transporter encoding genes has generated much interest since the discovery of functional single nucleotide polymorphisms (SNP) of MDR1 gene. Besides drug transporters, xenobiotic receptors also modulate drug disposition by regulating the transcription of drug metabolizing enzymes and drug transporters. Among many xenobiotic receptors, pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are two most well characterized since these receptors show wide substrate specificities and regulate the expression of various enzymes involved in drug disposition. Recently, several functional genetic polymorphisms were reported in PXR coding gene. In the present study, genetic polymorphisms of two drug transporters, MDR1 and BCRP, and two xenobiotic receptors, PXR and CAR, were investigated in Korean population.

• 한국독성학회:학술대회논문집
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• 한국독성학회 2004년도 춘계학술대회
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• pp.27-29
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• 2004

Drug transporters play an essential role in the absorption, distribution and elimination of clinical drugs, nutrients and toxicants. The importance of the transporters is exampled by therapeutic failure in cancer chemotherapy that is mainly caused by the overexpression of multidrug resistance (MDR)-related transporters. In addition, the transporters may involve in drug-drug interactions that lead to serious adverse drug responses and some transporters also contribute to inter-individual variation in drug responses. As an effort to understand the mechanism underlying the inter-individual variation of transporters activity, genetic and environmental factors influencing the expression or function of the transporters have extensively explored through last decade. Among them, genetic polymorphism of drug transporter encoding genes has generated much interest since the discovery of functional single nucleotide polymorphisms (SNP) of MDRl gene. Besides drug transporters, xenobiotic receptors also modulate drug disposition by regulating the transcription of drug metabolizing enzymes and drug transporters. Among many xenobiotic receptors, pregnane X receptor (PXR) and constitutive androstane receptor (CAR) are two most well characterized since these receptors show wide substrate specificities and regulate the expression of various enzymes involved in drug disposition. Recently, several functional genetic polymorphisms were reported in PXR coding gene. In the present study, genetic polymorph isms of two drug transporters, MDR1 and BCRP, and two xenobiotic receptors, PXR and CAR, were investigated in Korean population.

• Communications for Statistical Applications and Methods
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• 제29권1호
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• pp.65-83
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• 2022

Although various statistical methods have been developed to map time-dependent genetic factors, most identified genetic variants can explain only a small portion of the estimated genetic variation in longitudinal traits. Gene-gene and gene-time/environment interactions are known to be important putative sources of the missing heritability. However, mapping epistatic gene-gene interactions is extremely difficult due to the very large parameter spaces for models containing such interactions. In this paper, we develop a Gaussian process (GP) based nonparametric Bayesian variable selection method for longitudinal data. It maps multiple genetic markers without restricting to pairwise interactions. Rather than modeling each main and interaction term explicitly, the GP model measures the importance of each marker, regardless of whether it is mostly due to a main effect or some interaction effect(s), via an unspecified function. To improve the flexibility of the GP model, we propose a novel grid-based method for the within-subject dependence structure. The proposed method can accurately approximate complex covariance structures. The dimension of the covariance matrix depends only on the number of fixed grid points although each subject may have different numbers of measurements at different time points. The deviance information criterion (DIC) and the Bayesian predictive information criterion (BPIC) are proposed for selecting an optimal number of grid points. To efficiently draw posterior samples, we combine a hybrid Monte Carlo method with a partially collapsed Gibbs (PCG) sampler. We apply the proposed GP model to a mouse dataset on age-related body weight.

• Journal of Genetic Medicine
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• 제20권2호
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• pp.31-38
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• 2023

Rare diseases, even though defined as fewer than 20,000 in South Korea, with over 8,000 rare Mendelian disorders having been identified, they collectively impact 6-8% of the global population. Many of the rare diseases pose significant challenges to patients, patients' families, and the healthcare system. The diagnostic journey for rare disease patients is often lengthy and arduous, hampered by the genetic diversity and phenotypic complexity of these conditions. With the advent of next-generation sequencing technology and clinical implementation of exome sequencing (ES) and genome sequencing (GS), the diagnostic rate for rare diseases is 25-50% depending on the disease category. It is also allowing more rapid new gene-disease association discovery and equipping us to practice precision medicine by offering tailored medical management plans, early intervention, family planning options. However, a substantial number of patients remain undiagnosed, and it could be due to several factors. Some may not have genetic disorders. Some may have disease-causing variants that are not detectable or interpretable by ES and GS. It's also possible that some patient might have a disease-causing variant in a gene that hasn't yet been linked to a disease. For patients who remain undiagnosed, reanalysis of existing data has shown promises in providing new molecular diagnoses achieved by new gene-disease associations, new variant discovery, and variant reclassification, leading to a 5-10% increase in the diagnostic rate. More advanced approach such as long-read sequencing, transcriptome sequencing and integration of multi-omics data may provide potential values in uncovering elusive genetic causes.

• Asian-Australasian Journal of Animal Sciences
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• 제22권12호
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• pp.1718-1734
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• 2009

The aim of this review is to address some characteristics that influence meat quality. Genetic groups, nutrition, finishing systems and gender are the major factors that change carcass characteristics, chemical composition and fatty acid profile. Genetic groups that have zebu genes in their composition show higher hot carcass dressing than genetic groups without zebu genes. Genetic groups that have European breeds in their composition have higher marbling scores. On the other hand, genetic groups that have zebu breeds show low marbling scores. Bulls finished in feedlots present higher final weight than steers, cull cows and heifers. Fat thickness is one of the principal parameters that are affected by different gender. Cull cows (4.72 mm) and heifers (4.00 mm) present higher values than bulls (1.75 mm) and steers (2.81 mm). The major effects observed by different systems of termination are fat thickness and marbling. Crude protein presents variation due to nutrition. Nutrition influences variation of fatty acid profile. Genetic groups also influence fatty acid profile. Genetic groups that have zebu genes in their composition show high percentage of PUFA. The major class of fatty acids that is changed with nutrition is PUFA. The better ratios of PUFA/SFA and n-6/n-3 are found in Longissimus muscle of animals finished in pasture systems.

• Journal of Plant Biotechnology
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• 제3권2호
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• pp.89-94
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• 2001

In vitro plant regeneration of inbred breeding line of hot pepper (Capsicum annuum L.) was established using leaf and petiole segments as explants. About 28 days old plants were excised and cultured on MS medium supplemented with TDZ and NAA or in combination with Zeatin. In all of the media compositions tested, combination of TDZ 0.5 mg/L, Zeatin 0.5 mg/L, and NAA 0.1 mg/L was found to be the best medium for shoot bud initiation. Young petiole was the most appropriate explant type for the plant regeneration as well as genetic transformation in hot pepper. In this study, HpMADS1 gene isolated from hot pepper was introduced using Agrobacterium-mediated transformation system. Based on the analysis of Southern blot and RT-PCR, HpMADS1 gene was integrated in the hot pepper genome. It has been known that floral organ development is controlled by a group of regulatory factors containing the MADS domain. Morphological characteristics in these transgenic plants, especially flowering habit, however, were not significantly altered, indicating this MADS gene, HpMADS1 may be non-functional in this case.

• 한국약용작물학회지
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• 제10권1호
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• pp.5-11
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• 2002

한국내 분포하는 다년생 초본인 삽주 집단의 유전적 다양도와 집단구조를 조사하기 위해 전분 전기영동으로 분석하였다. 15 대립유전자좌위당 9개 좌위에서 다형현상(60.0%)을 보였으며, 유전적 다양도는 종수준에서 0.144로 높은 반면 집단수준이 이보다 약간 낮았다. 삽주의 유전적 다양도는 대부분 집단내에 존재하였고 유사한 생활양식을 가진 다른 식물종에 비해 높았다. 그 이유로는 유성생식, 다년생, 다산 등에 기인한다. 집단간 분화는 약 13%였고 지리적 거리와 유전적 거리의 상관은 높았다(r=0.65). 그럼에도 불구하고 일부 격리된 집단은 유효집단크기를 가지지 못하여 이형접합체의 결여가 유의성을 보여 다양도가 높은 집단의 보존이 요망된다.

• BMB Reports
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• 제42권8호
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• pp.529-534
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• 2009

Marbling score (MS) is the major trait that affects carcass quality in beef cattle. In this study, we investigated the association between genetic polymorphisms of the adipose differentiation-related protein gene (ADFP) and carcass traits in Korean cattle (also known as Hanwoo). Using direct DNA sequencing in 24 unrelated Korean cattle, 25 novel polymorphisms were identified within all exons and their flanking regions of ADFP, including the promoter region (1.5 kb). Among them, 21 polymorphic sites were selected for genotyping in the beef cattle (n = 425). Statistical analyses revealed that one promoter polymorphism (c.-56-18A > G) was associated with MS (P = 0.009). The 'A' allele of c.-56-18A > G exerted a lowering effect on MS, e.g., the lowest MS was found in 'A/A' (MS = 2.09 ${\pm}$ 1.23), intermediate in 'A/G' (MS = 2.11 ${\pm}$ 1.31), and the highest in 'G/G' (MS = 2.47 ${\pm}$ 1.47). Our findings suggest that these polymorphisms in ADFP might be important genetic factors involved in carcass quality in beef cattle.

• 식물분류학회지
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• 제49권4호
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• pp.324-333
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• 2019

Neutral genetic diversity found in plant species usually leaves an indelible footprint of historical events. Korea's main mountain range (referred to as the Baekdudaegan [BDDG]), is known to have served as a glacial refugium primarily for the boreal and temperate flora of northeastern Asia. In addition, life-history traits (life forms, geographic range, and breeding systems) influence the within- and among-population genetic diversity of seed plant species. For example, selfing species harbor significantly less within-population genetic variation than that of predominantly outcrossers. A previous study of two Liparis species (L. makinoana and L. kumokiri) emphasizes the role of the abovementioned factors shaping the levels of genetic diversity. Liparis makinoana, mainly occurring on the BDDG and self-incompatible, harbors high levels of within-population genetic diversity (expected heterozygosity, H_eP = 0.319), whereas there is no allozyme variation (H_eP = 0.000) in L. kumokiri, which is self-compatible and mainly occurs in lowland hilly areas. To determine if this trend is also found in other congeners, we sampled five populations of L. krameri from the southern part of the Korean Peninsula and investigated the allozyme-based genetic diversity at 15 putative loci. The somewhat intermediate levels of within-population genetic variation (H_eP = 0.145) found in L. krameri are most likely due to its occurrence in mountainous areas that, despite being outside of the main ridge of the BDDG, still served as refugia, and a self-incompatible breeding system. Management strategies are suggested for L. krameri and L. makinoana based on the levels and distribution of genetic diversity and inbreeding.

• Animal Bioscience
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• 제36권10호
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• pp.1508-1516
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• 2023

Objective: To carry out a comprehensive production planning of the existing Rongchang pig population from both environmental and genetic aspects, and to establish a closed population with stable genetic diversity and strict pathogen control, it is necessary to fully understand the genetic background of the population. Methods: We genotyped 54 specific pathogen free (SPF) Rongchang pigs using the Zhongxin-1 Porcine Breeding Array PLUS, calculated their genetic diversity parameters and constructed their families. In addition, we also counted the runs of homozygosity (ROH) of each individual and calculated the value of inbreeding coefficient based on ROH for each individual. Results: Firstly, the results of genetic diversity analysis showed that the effective population size (N_e) of this population was 3.2, proportion of polymorphic markers (P_N) was 0.515, desired heterozygosity (H_e) and observed heterozygosity (H_o) were 0.315 and 0.335. H_o was higher than H_e, indicating that the heterozygosity of all the selected loci was high. Secondly, combining the results of genomic relatedness analysis and cluster analysis, it was found that the existing Rongchang pig population could be divided into four families. Finally, we also counted the ROH of each individual and calculated the inbreeding coefficient value accordingly, whose mean value was 0.09. Conclusion: Due to the limitation of population size and other factors, the genetic diversity of this Rongchang pig population is low. The results of this study can provide basic data to support the development of Rongchang pig breeding program, the establishment of SPF Rongchang pig closed herd and its experimental utilization.