• Genomics & Informatics
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• v.3 no.4
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• pp.154-158
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• 2005

Germ-line mutations of the BRCA1 gene confer an increased risk for breast and ovarian cancers. BRCA1 in female cells is directly related with the maintenance of the inactive X chromosome (Xi). The effect by the loss of the BRCA1 function on the X chromosome gene expression remains unclear in cancer cells. We attempted to investigate the expression pattern of the X-linked genes by performing BRCA1 knockdown via RNA interference in the MCF7 breast cancer cell line. The transcriptional and translational levels of BRCA1 were decreased over 95% in the MCF7 cells after BRCA1 knockdown. The expression patterns of one hundred ninety X-linked genes were profiled by the X chromosome-specific cDNA arrays. A total of seven percent of the X-linked genes (14/190) were aberrantly expressed by over 2-fold in the MCF7-BRCA1 knockdown cells, which contained two up-regulated genes (2/190, 1 %) and 12 down-regulated genes (12/190, 6.3%). It is interesting that 72% of the aberrantly expressed X-linked genes were located on the Xq (10/14,) region. Our data suggests that BRCA1 may not be important to maintain X chromosome inactivation in cancer because the BRCA1 knockdown did increase the expression of the only one percent of X-linked genes in the human breast cancer cells.

• Korean Journal of Breeding Science
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• v.40 no.2
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• pp.119-127
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• 2008

A total of 41 microsatellite markers were used with 29 genotypes to examine the relationship between SSR polymorphisms and N-use efficiency related traits with a goal to identify the putative QTLs related to these traits. These primers yielded a total of 183 alleles (average 4.46 alleles per primer), and polymorphism information content (PIC) values of the SSRs ranged from 0.119 to 0.805 with mean value of 0.425. Correlation coefficients were obtained among the four N-use efficiency traits in the 34 accessions and significant positive correlations of relative ratios between grain yield and harvest index (r=0.3404) and total dry matter (r=0.7976), while N uptake showed a moderate level of correlation with the ratios of the grain yield and total dry matter, respectively. 36.5% (15/41) SSR markers were monomorphic among the 25 japonica accessions out of the 29 accessions. Association between SSR genotypes and phenotypic performances from the total (29) or japonica (25) accessions was tested based on a single point analysis. Three putative QTL regions were detected for the ratio of grain yield. These include the chromosomal region containing the RM283 locus on chromosome 1 and RM25 on chromosome 8 (all and japonica accessions) and the region with the SSR marker, RM206 on chromosome 11 (the japonica accessions). For the total dry matter ratio, two chromosomal regions were identified as the putative QTL region. One is the region with the SSR marker, RM162 on chromosome 6 (all and japonica accessions) and the other was the one with the SSR marker RM25 on chromosome 8 (the japonica accessions). Among these markers, RM25 showed associations with both traits.

• Clinical and Experimental Reproductive Medicine
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• v.31 no.4
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• pp.253-260
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• 2004

Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

• Journal of Microbiology and Biotechnology
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• v.8 no.4
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• pp.388-398
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• 1998

A bacterium which is resistant to both mercury and cadmium, and also capable of utilizing phenol as a carbon and energy source, was isolated from the Kumho River sediments near Kangchang Bridge, Taegu, Korea. The isolate was labeled Pseudomonas sp. KM10 and characterized. The bacteria grew in 4 mM $CdCl_2$and in $70{\mu}M$ $HgCl_2$. The bacteria efficiently removed over 90% of 1 g/l phenol within 30 h. In the presence of 1.250 g/l phenol, the growth of the microorganism was slightly retarded and the microorganism could not tolerate 1.5 g/l phenol. Curing of plasmid from the bacteria was carried out to generate a plasmidless strain. Subsequent experiments localized the genes for phenol degradation in plasmid and the genes for mercury resistance and cadmium resistance on the chromosome. Dot hybridization and Southern hybridization under low stringent conditions were performed to identify the DNA homology. These results showed significant homologies between the some sequence of the chromosome of Pseudomonas sp. KM10 and merR of Shigella flexneri R 100, and between the some sequence of the chromosome of Pseudomonas sp. KM10 and cadA of Staphylococcus aureus pI258. The mechanism of cadmium resistance was efflux, similar to that of S. aureus pI258 cadA, and the mechanism of mercury resistance was volatilization, similar to that of S. flexneri R100 mer.

• The Korean Journal of Community Living Science
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• v.26 no.4
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• pp.633-645
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• 2015

This study investigates the genotoxicity of crude antifungal compounds produced by Lactobacillus plantarum AF1 (L.plantarum AF1) and Lactobacillus plantarum HD1 (L. plantarum HD1) isolated from kimchi. The genetic toxicity of crude antifungal compounds was evaluated in bacterial reverse mutation in Salmonella and Escherichia spp., chromosome aberrations in Chinese hamster lung cells, and micronucleous formations in mice. In bacterial reversion assays with Salmonella Typhimurium TA98, TA100, TA1535, TA1537, and WP2uvrA, crude antifungal compounds did not increase the number of revertant colonies in both the absence and presence of the 59 metabolic activation system. In the chromosome aberration test with Chinese hamster lung cells, crude antifungal compounds showed no increase in the frequency of chromosome aberrations in the short-period test with/without the S9 mix or in the continuos test. In the in vivo mouse micronucleus assay, crude antifungal compounds showed no increase in the frequency of polychromatic erythrocytes with micronuclei. The results show that crude antifungal compounds produced by L. plantarum AF1 and L. plantarum HD1 did not induce any genotoxicity.

• Journal of Korean Society of Forest Science
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• v.71 no.1
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• pp.22-26
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• 1985

Cytological observations in the seven varieties of Juniperus chinensis L. showed three varieties (J. chinensis var. procumbens, J. chinensis var. kaizuka and J. chinensi.s var. aureo-variegata) were tetraploid with chromosome number, 2n=44, and rest of four varieties (J. chinensis var. horizontalis, J. chinensis var. sargentii, J. chinensis var. gtobosa and J. chinensis var. aureo-globosa) to be diploid, 2n=22. Chromosome configuration and behavior in the meiosis of P.M.C. of three tetraploids appeared to be slightly irregular. These results suggest that triploid tree can be artificially produced with these specific clones.

• The Korean Journal of Zoology
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• v.24 no.3
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• pp.163-171
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• 1981

Chromosome aberrations induced by ENU and MNU were investigated in CHO cells at various doses and times after treatment. The results obtained were as follows: The frequency of chromosome aberrations induced by ENU and MNU drastically depends on the length of the post-treatment period and the concentration of these chemicals. In ENU-treated groups, the major type of aberration was chromatid deletions in earlier samples but the frequency of chromatid exchanges increased with time, revealing, predominant type at 24 hours after treatment with $10^-3$ M. In MNU-treated groups, chromatid deletions were also major type but frequency of chromatid exchanges were predominant from 12 hours after treatment with $10^-4$ and $10^-5$ M.

• Journal of Interdisciplinary Genomics
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• v.4 no.2
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• pp.24-30
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• 2022

Klinefelter's syndrome (KS) is a syndrome with extra X chromosome(s), in XY individuals, characterized by gynecomastia, small testes, and infertility. Additional X chromosomes can be present as variable karyotypic forms, including mosaicism (47,XXY/46,XY). The reported prevalence of KS ranges from one in 500 to one in 1,000 live males, but is probably underestimated. The classic phenotype is small, firm testes and infertility resulting from seminiferous tubule dysgenesis and androgen deficiency. The spectrum of KS includes tall stature with relatively long legs and arm span, decreased body hair, learning disabilities, behavioral problems, poor motor skills, and other important medical issues, such as metabolic syndrome, diabetes, autoimmune diseases, cardiovascular disease, certain neoplasia. The increased risk of certain medical problems in KS can be attributed to a direct effect of the extra X chromosome, the combined action of multiple genomic and epigenetic factors, or the hormonal imbalances. Typically, chromosome analysis is not ordered for adult patients with general medical conditions, except for suspected cases of hematologic and lymphoid disorders. Even though it was found during work-up for certain disorders in adult patient, most physicians do not suspect KS or consider its impact. Therefore, understanding the pathophysiology and variable manifestation in KS is necessary, and discussions with multidisciplinary teams will help to diagnose and treat males with KS.

• Korean Journal of Plant Taxonomy
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• v.39 no.1
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• pp.24-28
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• 2009

The chromosome morphology of two Korean Lactuca (L. indica, L. triangulata) is reported herein. The chromosome number and karyotype of a naturalized plant, L. scariola are reported for the first time. The basic chromosome number was x = 9. Polyploid forms were not recorded. The karyotypes of L. indica, L. scariola, and L. triangulata were 2 n = 18 = 2 m+ 7 sm, 2 n = 18 = 1 m + 6 sm+ 2 st, 2 n = 18 = 2 m + 5 sm+ 2 st, respectively. Both L. indica and L. triangulata had satellites at the ends of their short arms. The haploid genome lengths of L. indica, L.scariola, and L. triangulata were $56.3{\mu}m$, $35.3{\mu}m$, and $72.5{\mu}m$ respectively. Each chromosome length of naturalized L. scariola was $2.7-5.2{\mu}m$; the smallest among Korean Lactuca. The chromosome lengths of L. indica and L. triangulata were $4.7-7.6{\mu}m$ and $2.9-7.9{\mu}m$, respectively. The karyotype of L. scariola differed from that of L.indica and L.triangulata both of which belong to sect. Tuberosae. Therefore, L. scariola is thought to belong to sect. Lactuca subsect. Lactuca.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.426-430
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• 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.