• Journal of Korean Society of Forest Science
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• v.58 no.1
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• pp.1-7
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• 1982

Megagametophyte and embryo tissue of Pinus densiflora were subjected to study the inheritance of glutamate-oxalate transaminase(GOT) and leucine aminopeptidase(LAP), and linkage relationship among isozyme loci coding both enzymes by starch gel zone-electrophoresis. Four zones of activity were observed for GOT. No variation was found in the fastest migrating zone (GOT-A). Electrophoretic phenotypes of the other two zones (GOT-B and GOT-C) showed 1:1 segregation ration, suggesting that each zone is controlled by a single locus. Foru and three alleles were identified at both loci respectively. The isozyme pattern of the fourth zone(GOT-D), migrated cathodally, coincided precisely with that of GOT-C. Whether the two zones are controlled by the same locus or by two tightly linked loci remained unknown. In all three variant GOT zones, heterozygoes embryos produced triple band patterns, indicating that GOT isozyme in Pinus densiflora is a dimer. Two zones of activity stained for LAP were found. The segregation of the two zones (LAP-A and LAP-B) suggested that tow loci control each of both isozymes. Two and three alleles were identified at both loci. GOT-B and LAP-B were found to be tightly linked, showing an average recombination frequency of 12.5 percent. Slight deviation from independent assortment was observed between GOT-B and GOT-C, with recombination frequency of 41 percent.

• Proceedings of the Korean Society for Food Science of Animal Resources Conference
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• 2000.11a
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• pp.59-75
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• 2000

This study was carried out to develop a DNA marker for identifying between Korean cattle (Hanwoo) and other breeds. First experiment was performed to isolate Hanwoo specific DNA marker at sequence characterized amplified regions (SCARs). Five breeds of cattle including Hanwoo, Holstein, Hereford, Angus and Charolais were represented with the from 8 to 20 individuals. Fourteen primers of 300 arbitrary primers of 10 nucleotides showed reproducible polymorphism across the breeds. An amplified band of 0.9 kb in the primer MG-3 showed the specificity to Holstein breed. And MG-6 and MG-12 detected the Hereford and Hanwoo specific markers at the size of 2.0 kb and 1.0 kb, respectively. A 1.0 kb band of MG-12 was cloned and sequenced. A SCAR primer was designed based on the obtained sequences. It was possible to identify the Hanwoo from Holstein breed. Second experiment was carried out to observe the genotype frequencies of MC1R in 1,044 samples of imported beef and eight different cattle breeds including Hanwoo, Holstein, Angus, Brown-Swiss, Charolais, Limousin, Simmental and Hereford. The primers for the amplification of bovine MC1R gene were designed based on a bovine MC1R gene sequence (GenBank accession no.Y19103). A size of 350 bp was amplified by polymerase chain reaction(PCR), digested with two different restriction enzyme, BsrFI and MspA II, and electrophoresed in 2.5% Metaphore agarose gel for determination of genotypes. Genotype frequencies of Hanwoo were 0.10 in E+e and 0.90 in ee. Allele ED was shown in all of Holstein and Angus breeds tested which have black coat color phenotypes. We suggested that SCAR marker and the bovine MC1R gene could be used as a DNA marker for distinguishing beef between Hanwoo and Holstein.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.1
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• pp.11-17
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• 2017

Purpose: Phenylketonuria (PKU) results from a deficiency of phenylalanine hydroxylase (PAH). The mutation of the PAH gene results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. This study reports ten cases of patients with the benign HPA genotype c.158G>A (p.Arg53His, R53H) variant in the PAH gene and aims to evaluate the clinical significance of the R53H variant. Methods: Ten Korean patients with the HPA genotype the R53H variant were included in this study. A retrospective medical record review was conducted. We characterized the phenotypes of the patients with HPA with the R53H variant using the following system: classic PKU, moderate PKU, mild PKU, Mild HPA, and benign HPA. Results: Five patients had the R53H variant with the "Pathogenic" variants (R413P, R241C, $Y356^*$, c.442-1G>A, $Y325^*$), Two patients had the "Likely pathogenic" variants ($W187^*$, A259T), Two patients had the "Uncertain significance" variants (R53H, G344D), and One patient had the "Not provided" variant (c.1066-14C>G). Nine patients genotyped with the R53H variant were the patient with benign HPA and One patient genotyped with the R53H homozygote was within normal range of plasma phenylalanine. None of the ten patients required dietary restriction of phenylalanine or pharmacotherapy to maintain their plasma phenylalanine levels and showed no clinical symptoms of HPA. Conclusion: Ten patients with HPA genotype the R53H variant were the patient with benign HPA and showed no clinical symptoms of HPA. Thus, the R53H variant, which was previously classified as an "Uncertain significance" mutation in HPA patients, should be re-classified as "Benign."

• Journal of Life Science
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• v.21 no.4
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• pp.494-501
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• 2011

To understand the relationship between coat color inheritance patterns and genotypes of Extension (E) and Agouti (A) loci in cattle, the genotypes for melanocortin-1 receptor (MC1R) and agouti signaling protein (ASIP) were analyzed in Hanwoo, Jeju black cattle (JBC), and their crossbred progeny. Three MC1R alleles ($E^D$, $E^+$, and e) were found in the black-colored JBC population. JBC had no recessive homozygotes (e/e), but this genotype was predominant in the Hanwoo breed. However, MC1R $E^+$/e Hanwoo did not produce a black coat color as they appeared either as brown or solid red. For ASIP, three genotypes (A/A, A/$A^{Br}$, and $A^{Br}/A^{Br}$) were determined by insertion/deletion of an L1-BT element in Hanwoo. The ASIP $A^{Br}$ allele was rarely observed, and no ASIP $A^{Br}/A^{Br}$ homozygotes were detected in the JBC population. Cattle carrying ASIP $A^{Br}$ did not show any agouti-like brindle pigmentation patterns in either breed or their progeny. The coat colors of the crossbred progeny were discriminated by two colors, yellowish-brown versus dark-brown or black, and their coat colors were directly related to the genotypes of the Extension locus, yellowish-brown (e/e) and dark-brown or black ($E^+$/e), but not to the Agouti locus. ASIP genotypes probably did not affect coat color development in the Hanwoo or crossbred progeny. Our results suggest that the ASIP genotypes do not play key roles in coat color variation, but the MC1R genotypes do direct the phenotypes of Hanwoo, JBC, and their progeny.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.1
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• pp.49-62
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• 2020

Purpose: We aimed to investigate the disease phenotype of Korean pediatric Crohn's disease (CD) patients at diagnosis according to the Paris classification by comparison with patients from the European multicenter 5-years recruitment of children with newly developed IBD (EUROKIDS registry). Methods: Korean children and adolescents who had been newly diagnosed with CD at the age of <18 years during 2013-2016 were included in this multicenter retrospective study. Disease phenotype at diagnosis was classified according to the Paris classification, and compared with the published data from the EUROKIDS study. Results: A total of 255 patients were included. The median diagnosis age was 14.7 years (range, 0.8-17.9 years). No significant difference was observed in male-to-female ratio with EUROKIDS (1.9:1 vs. 1.45:1, p=0.062). The proportion of children aged <10 years was significantly lower in Koreans (7.1% vs. 19.6%, p<0.001). Colonic disease was less prominent (10.0% vs. 27.3%, p<0.001), while upper GI involvement was more prominent in Korean children (59.3% vs. 46.2%, p<0.001). The proportion with perianal fistulizing disease at diagnosis was significantly higher in Korean patients (44.8% vs. 8.2%, p<0.001). A separate analysis of Korean patients revealed that perianal fistulizing disease at diagnosis was positively associated with male sex and body mass index z-score (odds ratio [OR]=2.12, 95% confidence interval [CI]=1.20-3.76, p=0.010; and OR=1.29, 95% CI=1.05-1.58, p=0.015, respectively). Conclusion: Approximately half of pediatric CD patients in Korea present with perianal fistulas and/or abscesses at diagnosis, which is a distinct feature of CD in Korean children and adolescents compared to their European counterparts. An underlying genetic difference between ethnicities may play a role in this expression of different phenotypes in pediatric CD.

• Journal of Animal Science and Technology
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• v.45 no.3
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• pp.343-354
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• 2003

Simulation studies were carried out to investigate the responses of selection for three carcass traits (longissimus muscle area: EMA, fat thickness: BF, and marbling score: MS) based on either adjusted phenotypes (APH) or estimated breeding values (EBV) in multivariate animal model with different breeding schemes. Selection responses were estimated and compared on six different models with respect to breeding schemes using either carcass measurements or real time ultrasonic (RTU) scans generated by Monte Carlo computer simulation supporting closed breeding population. From the base population with 100 sires and 2000 dams, 20 sires and 1000 dams by each generation were selected by either APH or EBV for 10 generations. Relative economic weights were equal of three traits as EMA(1): BF(－1) : MS(1) for standardized either APH or EBV. For first two models which were similarly designed with current progeny-test program in Korean cattle, three carcass traits with records either only on male progenies (Model 1) or on male and female progenies (Model 2) were used for selecting breeding stocks. Subsequently, generation intervals on males were assumed as 6${\sim}$10 years in these two models. The other two models were designed with tools of selection by RTU rather than carcass measurements with genetic correlations of 0.81${\sim}$0.97 between RTU and corresponding carcass traits in addition to whether with records (Model 4) or without records (Model 3) on female. In these cases, generation intervals on males were assumed as 2${\sim}$4 years. The remaining last two models were designed as similar with Models 3 and 4 except genetic correlations of 0.63${\sim}$0.68 between RTU and corresponding carcass traits with records (Model 6) and without records (Model 5) on females. The results from 10 replicates on each model and selecting methods suggested that responses indirect selection for carcass traits in Model 4 were 1.66${\sim}$2.44 times efficient rather than those in Model 1. Otherwise, in Model 6 with assuming moderate genetic correlations, those efficiencies were 1.18${\sim}$2.08 times with comparing to responses in Model 1. However, selection response for marbling score was the smallest among three carcass traits because of small variation of measurements. From these results, this study suggested that indirect selection using RTU technology for improving high meat qualities in Korean cattle would be valuable with modifying measuring rules of marbling score forward to large variation or modifying relative economic weight for selection.

• Journal of Life Science
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• v.23 no.2
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• pp.197-206
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• 2013

The present study investigated whether leukemia-maintaining cells reside in a differentiation-resistant fraction using a megakaryocytic differentiation model of K562 cells. Treatment with phorbol-12-myristate-13-acetate (PMA) significantly inhibited the colony-forming efficiency of the K562 cells. At a PMA concentration of 1 nM or higher, colony was not formed, but approximately 40% of K562 cells still survived in soft agar. Approximately 70% of colony-forming cells that were isolated following the removal of PMA after exposure to the agent were differentiated after treatment with 10 nM PMA for 3 days. The differentiation rate of the colony-forming cells was gradually increased and reached about 90% 6 weeks after colony isolation, which was comparable to the level of a PMA-treated K562 control. Meanwhile, imatinib-resistant variants from the K562 cells, including K562/R1, K562/R2, and K562/R3 cells, did not show any colony-forming activity, and most imatinib-resistant variants were CD44 positive. After 4 months of culture in drug-free medium, the surface level of CD44 was decreased in comparison with primary imatinib-resistant variants, and a few colonies were formed from K562/R3 cells. In these cells, Bcr-Abl, which was lost in the imatinib-resistant variants, was re-expressed, and the original phenotypes of the K562 cells were partially recovered. These results suggest that leukemia-maintaining cells might reside in a differentiation-resistant population. Differentiation therapy to eliminate leukemia-maintaining cells could be a successful treatment for leukemia if the leukemia-maintaining cells were exposed to a differentiation inducer for a long time and at a high dose.

• Horticultural Science & Technology
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• v.34 no.3
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• pp.461-471
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• 2016

This study was conducted to establish an in vitro propagation system for sea-milkwort (Glaux maritima L.), which is an endangered coastal plant species with high horticultural value. Two phenotypes, 'Red type (RT)' and 'Pistachio type (PT)' based on the colors of stem and flower, were obtained from a personal horticulturist in 2009 and used for this study as plant materials. The stock plants showed typical morphologies in flower, capsule, and seed appearances as previously reported. Low temperature treatment at $4^{\circ}C$ for four or more weeks after in vitro sowing maximized seed germination percentage, indicating that imbibition of seed and subsequent low temperature treatment are crucial for its germination. The in vitro seedlings had phenotypic variation, falling into 'RT' and 'PT' classes like the stock plants. Although slight differences depending on genotype and medium were recognized, the fourth or fifth nodes detached from the in vitro seedlings revealed the best multiplication efficacy when estimated on the basis of total number of nodes of newly developed axillary shoots. In addition, the nodes from 'RT' and 'PT' regenerated the most shoots on medium supplemented with $0.5mg{\cdot}L^{-1}$ BA alone and $0.5mg{\cdot}L^{-1}$ BA plus $0.5mg{\cdot}L^{-1}$ IAA, respectively. The node culture-derived plantlets were well acclimatized in a culture room ex vitro and completed the pseudo-annual life cycle coincident with that in the natural salt march habitat with the current cultivation method of applying fresh water-irrigation under an inland environment. This work represents the first report of in vitro propagation of sea-milkwort. Thus, our study will contribute to exo-habitat conservation and natural habitat restoration of this endangered species in addition to development of a horticultural product.

• KOREAN JOURNAL OF CROP SCIENCE
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• v.21 no.2
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• pp.281-313
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• 1976

To obtain fundamental informations on cotton breeding efficiences for Korea, individual genetic relationships and interrelationships between the agronomic characteristics of Upland cotton were investigated. These experiments were couducted at the Mokpo Branch Station $(34^{\circ}48'N, $ $126^{\circ}23'E$ and altitude of 10m above sea level) from 1969 through 1972. Heterosis, combining ability, dominance and recessive gene action, genetic variance, and phenotypic and genotypic correlation were investigated by $F_1'S$ from an 11-parent partial diallel cross and the segregating $F_2$ and $F_3$ populations of the cross Paymaster times Heujueusseo Trice. The following points resulted from this study, 1. Heteroses for number of bolls per plant and lint yield were significant at 27, 84% and 37.26%, respectively. No other character had significant heteroses. 2. The GCA estimates for all studied characteristics were higher than the SCA estimates. Varieties with high GCA effects were Suwon 1 for earliness, Paymaster and Arijona for high lint percent, and Arijona for long fiber, etc, 3. SCA estimates for lint yield varied widely in crosses with Mokpo 4, Mokpo 6 and Heujueusseo Trice. Those crosses with the highest SCA effects were combinations with large characteristics differences, Example of these crosses are Mokpo 4 times Acala 1517W, Mokpo 4 times D. P. L. and Heujueusseo Trice aud Paymaster. 4. Early-maturing varieties were completely dominant to late-maturing varieties in some combinations while other crosses gave intermediate phenotypes. These results suggest additive genetic action by multi-genes. Heujueusseo Trice, Mokpo 6, and Suwon 1 showed highest degree of dominance for earliness. 5. There were no significant trends for inheritance of weight of boll and 100 seeds weight. 6. Long staple was partially to completely dominant to short staple. Though there were single gene ratios the rate of dominance decreased in the $F_2$ and $F_3$ populations in the cross between the long staple variety Paymaster and the short staple variety Heujueusseo Trice. Diallel cross $F_1$ hybrids showed complicated allelic gene action for staple length. Various dominance degree were shown by varieties. 7. Number of bolls per plant indicated strong over-dominance and small non-allelic additive gene action. 8. Lint Yield was characterized by over-dominance and by multiple non-allelic-gene action. High-yielding varieties were dominant to low-yielding ones. However, the low-yielding variety Heujueusseo Trice showed over-dominance, indicating different reactions according to the varieties and combinations. 9. Broad sense heritability for days to flowering was 34-39% while narrow sense heritability was 11%. Large variations of individual plants caused by Korean climatic conditions cause this situation. Heritability estimates for weight of boll was 30% for broad sense and 22% for narrow sense. 10. Heritability estimates for staple length and lint percent were very high suggesting strong selection effects. 11. Narrow sense heritability estimates for number of bolls per plant was 30% in the diallel cross $F_1$ hybrids and 36% in the $F_2$ population of the special cross. Broad sense heritability was estimated at 67% suggesting that. 12. Heritability estimates for lint yield was low due to high over-dominance in the diallel cross $F_1$ hybrids. Heritability estimates for yield was low in the $F_1$ hybrids but high in the $F_2$ and $F_3$ populations. 13. Phenotypic and genotypic correlations between lint percent and days to flowering and between staple length and days to flowering were high in the $F_1, $ $F_2$ and $F_3$ populations. Late-maturing varieties and individuals had long staple and high lint percent in general. As the correlation between days to flowering and lint yield was extremely low, the two traits were considered independent of each other. Days to flowering and number of bolls per plant were negatively correlated in the $F_3$ population, indicating early-maturing individual plants with many bolls may be readily selected. 14. Phenotypic and genotypic correlations between lint percent and staple length were high in $F_1, $ $F_2$ and $F_3$ populations. Accordingly, long staple varieties were high in lint percent. It was recognized that lint yield and lint percent were positively correlated in the diallel cross $F_1$ hybrids, and lint percent and staple length were positively correlated in the $F_2$ population, indicating that lint percent and staple length affect lint yield. 15. Lint yield was significantly and positively phenotypically correlated with number of bolls per plant in $F_1, $ $F_2$ and $F_3$ populations. A high genotypic correlation was also noted indicating a close genetic relationship. The selection efficiencies for a high-yielding variety can be increased when individual plants with many bolls are selected in later generations. The selection efficiencies for good fiber quality can be enhanced when individuals with long staple and high lint percent are selected in early generations.