• Animal cells and systems
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• v.10 no.4
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• pp.227-231
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• 2006

Micro-deletions at specific loci of the Y chromosome have been observed frequently in male infertility patients, suggesting that genes in these regions are involved in male germ cell development. DAZ is a representative male infertility gene at the AZFc locus of the Y chromosome. Since DAZ contains an RNA binding motif along with so-called a DAZ domain, it was proposed to participate in RNA metabolism during spermatogenesis. A mouse gene homologous to the human DAZ gene has been cloned and named Dazl (DAZlike). Dazl is autosomal and expressed in the testis and also at a low level in the ovary. Male mice homozygous for the Dazl null allele have small testes with a few spermatogonia and almost complete absence of germ cells beyond the spermatogonial stage, suggesting the requirement of Dazl for entry or progression through meiosis. However, its exact cellular functions have not been understood yet. In order to investigate cellular functions of Dazl, we decided to isolate candidate interacting protein genes of the mouse Dazl, using yeast two-hybrid screening. A number of candidate Dazlinteracting proteins have been isolated, such as Bprp, Acf, Hgs, Murr1, Nbak3 and Ranbp9, but dynein light chain 1 (Dlc1) was most predominant. A strong interaction of Dazl with Dlc1 suggests that Dazl might function as an mRNA adaptor to the dynein motor complex.

• Korean Journal of Medicinal Crop Science
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• v.3 no.1
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• pp.61-65
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• 1995

Karyotype analysis was carried out in four lines of Bupleurum falcatum L. cultivated in Korea and SDS-PAGE was applied to determine the seed protein profiles among the lines. Chromosomes were classified into two groups, large and small ones. Two kinds of karyotype, 2n=20 and 2n=26, were identified. Chromosome 1 of 2n=20 were all submedian, while that of 2n=26 were median. Chromosomes 2, 3 and 5 of 2n=20 showed polymorphism in size and arm-ratio. Chromosome 2 was submedian, while others were median in the line of 2n=26. Karyotypcs of cultivars native of Korea were similiar each other, while those introduced from Japan showed different patterns. In SDS PAGE gels, qualitative difference s in high molecular weight proteins, more than 45KD, were detected among the lines. The numbers of specific band were three in lines of 2n=20 and two in 2n=26.

• Genomics & Informatics
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• v.13 no.3
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• pp.81-85
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• 2015

Molecular characterization technology in genetically modified organisms, in addition to how transgenic biotechnologies are developed now require full transparency to assess the risk to living modified and non-modified organisms. Next generation sequencing (NGS) methodology is suggested as an effective means in genome characterization and detection of transgenic insertion locations. In the present study, we applied NGS to insert transgenic loci, specifically the epidermal growth factor (EGF) in genetically modified rice cells. A total of 29.3 Gb (${\sim}72{\times}coverage$) was sequenced with a $2{\times}150bp$ paired end method by Illumina HiSeq2500, which was consecutively mapped to the rice genome and T-vector sequence. The compatible pairs of reads were successfully mapped to 10 loci on the rice chromosome and vector sequences were validated to the insertion location by polymerase chain reaction (PCR) amplification. The EGF transgenic site was confirmed only on chromosome 4 by PCR. Results of this study demonstrated the success of NGS data to characterize the rice genome. Bioinformatics analyses must be developed in association with NGS data to identify highly accurate transgenic sites.

• Korean Journal of Microbiology
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• v.45 no.4
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• pp.430-434
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• 2009

Bacterial 16S rRNA gene sequences have been widely used for the studies on molecular phylogeny, evolutional history, and molecular detections. Bacterial genomes have multiple rRNA operons, of which gene sequences sometimes are variable. In the present study, heterogeneity of the Vibrio 16S rRNA gene sequences were investigated. Vibrio 16S rRNA sequences were obtained from GenBank databases, considering the completion of gene annotation of Vibrio genome sequences. These included V. cholerae, V. harveyi, V. parahaemolyticus, V. splendidus, and V. vulnificus. Chromosome 1 of the studied Vibrio had 7~10 copies of the 16S rRNA gene, and their intragenomic variations were less than 0.9% dissimilarity (more than 99.1% DNA similarity). Chromosome 2 had none or single 16S rRNA gene. Intragenomic 16S rRNA genotypes were detected at least 5 types (V. vulnificus #CMCP6) to 8 types (V. parahaemolyticus #RIMD 2210633, V. harveyi #ATCC BAA-1116). These suggest that Vibrio has high heterogeneity of the 16S rRNA gene sequences.

• Journal of Crop Science and Biotechnology
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• v.11 no.3
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• pp.205-214
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• 2008

Blast disease caused by the fungal pathogen, Magnaporthe oryzae, is one of the most damaging diseases in rice. The use of resistant varieties is an effective measure to control the disease, however, many resistant varieties were broken down to their resistance effects by the differentiating of new virulent isolates. This study was done to analyze the haplotypes of 31 microsatellite markers linked to five major R genes and two QTLs and to identify the alleles for the putatively novel genes related to durable resistance to blast in 56 Korean japonica and four indica varieties. The 31 microsatellite markers produced 2 to 13 alleles(mean = 5.4) and had PICi values ranging from 0.065 to 0.860(mean=0.563) among the 60 rice accessions. Cluster analysis based on allele diversities of 31 microsatellite markers grouped into 60 haplotypes and ten major clusters in 0.810 genetic similarity. A subcluster IV-1 grouped of early flowering varieties harboring Piz and/or Pi9(t) on chromosome 6 and Pita/Pita-2 gene on chromosome 12. The other subcluster V-1 consisted of four stable resistance varieties Donghae, Seomjin, Palgong and Milyang20. The analysis of putative QTLs associated with seven blast resistance genes using ANOVA and linear regression showed high significance to blast resistance across regions and isolates in the markers of two genes Piz and/or Pi9(t) and Pita/Pita-2. These results illustrate the utility of microsatellite markers to identify rice varieties is likely carrying the same R genes and QTLs and rice lines with potentially novel resistant gene.

• ALGAE
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• v.32 no.1
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• pp.15-28
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• 2017

Morphological, molecular and chromosomal studies were carried out on Tauya basicrassa, an endemic kelp species distributed on the northern continental coast of the Sea of Okhotsk in Russia. The sporophytes of T. basicrassa grow up to 3-6 m long, 1.8-2.2 m wide, and 6.5-7 kg wet weight. The thallus has a blade with very thick narrow basal portion and thinner and much broader upper portion, which usually splits into 3 bullated lobes. A dwarf laminariacean alga, which did not show any morphological similarity to the other species of the order Laminariales, was found from the same locality. The blade of this alga is thin and soft, reached 26-34 cm long and 6-6.5 cm wide and had 4 longitudinal rows of bullations that covered the entire blade. Molecular analysis showed that the dwarf alga has 100% sequence identity in plastid-encoded RuBisCo spacer, mitochondrial cytochrome c oxidase subunit 1 and nuclear-encoded rDNA genes with normal sporophytes of T. basicrassa, indicating that they are different life forms of the same species. Fluorescent DAPI staining showed that the nucleus in the normal sporophyte was 50-65% larger than those of the dwarf ones. Chromosome count using acetocarmine staining showed n = ca. 20 for the normal sporophytes of T. basicrassa and n = ca. 10 for the dwarf one. These results suggest that the dwarf thallus is a haploid parthenosporophyte of T. basicrassa, which developed in nature. This is the first evidence of parthenosporophytes of the laminariacean algae occurring naturally in the field.

• Biomolecules & Therapeutics
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• v.10 no.4
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• pp.268-273
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• 2002

Mutagenic potential of HM10411 (recombinant human granulocyte colony stimulating factor) was evaluated by bacterial reverse mutation test, in vitro chromosome aberration test and in vivo micronucleus test. The bacterial reverse mutation test was performed using the histidine auxotroph strains of Salmonella typhimurium TA100, TA1535, TA98, TA1537 and tryptophan auxotroph strain of Escherichia coli WP2 uvrA. The negative results of the bacterial reverse mutation test suggest that HM10411 does not induce mutation, in the genome of Salmonella typhimurium and E. coli under the conditions used. In addition, it has little clastogenicity either in vitro chromosome aberration test or in vivo micronucleus test. For in vitro chromosomal aberration test, Chinese hamster lung(CHL) cells were exposed to HM10411 of 23, 46 or 92 $\mu\textrm{g}$/ml for 6 or 24 hours in the absence and for 6 hours in the presence of metabolic activation system. There was no significant increase in the number of aberrant metaphase in HM 10411-treated groups at any dose levels both in the presence and absence of metabolic activation system. The micronucleus test was carried out using specific pathogen free(SPF) 7-week old male ICR mice, The test item, HM10411 was intraperitoneally administered at 1150, 2300 or 4600 $\mu\textrm{g}$/kg once a day for 2 consecutive days. There was no significant increase in the frequencies of micronucleated polychromatic erythrocytes(PCEs) at any treated groups compared with negative control group. Therefore, these results demonstrate that the test item, HM10411, was not mutagenic under the condition of these studies.

• Korean Journal of Breeding Science
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• v.42 no.5
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• pp.470-480
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• 2010

The objectives of this study were to identify QTLs for agronomic traits using introgression lines from a cross between a japonica weedy rice and a Tongil-type rice. A total of 75 introgression lines developed in the Tongil-type rice were characterized. A total of 368 introgressed segments including 285 homozygous and 83 heterozygous loci were detected on 12 chromosomes based on the genotypes of 136 SSR markers. Each of 75 introgression lines contained 0-9 homozygous and 0-8 heterozygous introgressed segments with an average of 5.8 segments per line. A total of 31 quantitative and 2 qualitative loci were identified for 14 agronomic traits and each QTL explained 4.1% to 76.6% of the phenotypic variance. Some QTLs were clustered in a few chromosomal regions. A first cluster was located near RM315 and RM472 on chromosome 1 with QTLs for 1,000 grain weight, culm length, grain width and thickness. Another cluster was detected with four QTLs for 1,000 grain weight, grain length, grain width and grain length/width ratio near the SSR marker RM249 on chromosome 5. Among the 31 QTLs, 9 (28.1%) Hapcheonaengmi3 alleles were beneficial in the Milyang23 background. ILs would be useful to confirm QTLs putatively detected in a primary mapping population for complex traits and serve as a starting point for map-based cloning of the QTLs. Additional backcrosses are being made to purify nearly isogenic lines (NILs) harboring a few favorable Hapcheonaengmi3 alleles in Milyang23 background.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.10-14
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• 2019

Purpose: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. Materials and Methods: This was a retrospective study of POI patients with chromosomal abnormalities diagnosed between January 2009 and December 2017. The definition of POI is based on hypergonadotropinism of 40 or greater in follicle stimulating hormone (FSH) measurements at age 40 years or less. FSH was measured twice at least 4 weeks apart. Karyotyping using peripheral blood for chromosomal testing was conducted in all patients diagnosed with POI. We analyzed the clinical characteristics and genetic causes of patients who were diagnosed with POI. Results: Forty patients were diagnosed with POI including 9 (22.5%) with identified chromosomal abnormalities. The mean age at diagnosis was $23.1{\pm}7.8years$ (ranging between 14 and 39). Three patients did not experience menarche. The presenting complaints were short stature in one case, one case of amenorrhea with ambiguous external genitals, one case of infertility, and six related to menstruation such as oligomenorrhea or irregular rhythm. Turner syndrome was diagnosed in four cases, Xq deletion in one case, trisomy X in two cases, and 46,XY disorder of sexual development in two other patients. Conclusion: Patients diagnosed with POI carrying the same type of chromosomal abnormality manifest different phenotypes. The management protocol also needs to be changed depending on the diagnosis. A karyotype is indicated for accurate diagnosis and proper management of POI in patients, with or without stigmata of chromosomal abnormalities.

• Clinical and Experimental Reproductive Medicine
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• v.50 no.3
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.