• Journal of Life Science
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• v.11 no.2
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• pp.81-82
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• 2001

The human ribosomal protein 54 genes, RPS4X and RPS4Y are located on the X and Y chromosomes. They have been postulated as candidate for Turner syndrome which was characterized by gonadal dysgenesis, short stature, and various external and internal anomalies. Using the BLAST search program, we identified sixteen RPS4 pseudogenes from the human genome and analyzed them phylogenetically. The RPS4-C12-1, C12-2, and C12-3 pseudogenes from chromosome 12 have been evolved independently during hominid evolution. The RPS4X gene from X chromosome it closely related to the RPS4-C12-2 from chromosome 12 and RPS4-C5 from chromosome 5, whereas the RPS4Y gene is very closely related to RPS4-C16 from chromosome 16. The exact mapping of the RPS4 pseudogene family was peformed, indicating that the RPS4 pseudogene family was mapped on human chromosomes 1, 2, 5, 6, 8, 10, 11, 12, 13, 16, 18, 19 and 20. Taken together, the precise chromosomal localization and phylegenetic relationship of the RPS4 pseudo-genes could be of great use in further study for understanding the Turner syndrome.

• The Korean Journal of Malacology
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• v.3 no.1
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• pp.24-34
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• 1987

The melaniid snails belonging to genus Semisulcospira were collected in the Kangwha and Yonchon areas of Korea in 1986 through 1987 in order to carry out a cytotaxonomic study, The snails were first narcotized with menthol and fixed with 70% ethyl alcohol for morphological identification. The gonads of adult snails were used for chromosome analyses by the technique of Imai et al. (1977) with minor modification. Slide preparations were observed under high power fields using a Leitz light miscroscope. The results obtained in the present stuedy are summarized as follows: 1)The sanils collected from Kangwha and Yonchon areas were identified as Semisulcospira forticosta(Martens, 1886)and S. gottschei (Martens, 1886) respectively.2)No specific differences were obwerved in details of the chromosome cycle between S. forticosta and S. gottschei.3) Diploid chromosome numbers observed at mitotic metaphase were 36. There was no difference in chromosome numbers between S. forticosta and S. gottschei.4) There were morphological differences in the karyotypes of the two species. The spermatogonial metaphase karyotype of S. forticosta consists of six pairs of metacentric, eleven pairs of submetacentric, and one pair of acrocentric chromosomes. The spermatogonial metaphase karyotype of S. gottschei consists of five pairs of metacentric, tselve pairs of submetacentric, and one pair of acrocentric chromosomes. Summarizing the aboxe results, the two species of Semisulcospira employed in this study have same chromosome numbers(2n=36)with different karyotypes.

• Clinical and Experimental Reproductive Medicine
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• v.26 no.3
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• pp.475-481
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• 1999

Objective: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. Methods: A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. Results: The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. Conclusion: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.

• The Korean Journal of Zoology
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• v.19 no.2
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• pp.71-78
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• 1976

Chromosome aberration induced by methyl methanesulfonate (MMS) and the effects of thymidine analogs (BUdR or IUdR) on MMS-induced chromosome aberration were studied in human lymphocyte cultures. Single treatment with MMS to lymphocytes induces both chromatid and chromosome type aberrations with high frequency of chromatid type. The combined treatment of BUdR or IUdR with MMS was found to be more effective in increasing the rate of chromosome type aberrations.

• Toxicological Research
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• v.25 no.1
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• pp.47-50
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• 2009

To investigate the mutation inducibility of surfactin C, we performed the chromosome aberration assay with Chinese hamster lung cells in vitro. The colorimetric MTT screening assay was carried out to determine the cytotoxicity index ($IC_{50}$) of surfactin C. The $IC_{50}$ value was $125{\mu}g/ml$. For the chromosome aberration test of surfactin C, the maximum concentration was employed as $125{\mu}g/ml$, followed by 62.5 and $31.25{\mu}g/ml$ for the lower concentrations, with or without metabolic activation (S9). Cyclophosphamide and mitomycin C were used as positive controls in the presence and absence of S9 metabolic activation, respectively. These results showed that surfactin C was not capable of inducing chromosome aberration, as measured by the chromosome aberration test using Chinese hamster lung cell line. There is no evidence for surfactin C to have a genotoxic potential.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.80-83
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• 2007

A 36-year-old pregnant woman was referred for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome in the maternal serum screening test. Cytogenetic analysis of the cultured amniotic fluid cells revealed mosaicism for ring chromosome 11: 46,XX,r(11)[65]/ 45,XX,-11[16]/ 46,XX [34]. Parental karyotypes were normal. A targeted ultrasound showed intrauterine grow th restriction (IUGR). Cordocentesis was performed to characterize the ring chromosome and to rule out tissue specific mosaicism. Karyotype was confirmed as 46,XX,r(11) (p15.5q24.2)[229]/45,XX,-11[15]. And a few new form of ring w ere detected in this culture. The deletion of subtelomeric regions in the ring chromosome were detected by fluorescent in situ hybridization (FISH). The pregnancy was terminated. The fetal autopsy showed a growth-retarded female fetus with rocker bottom feet. We report a case of prenatally detected a de novo ring chromosome 11.

• Molecules and Cells
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• v.45 no.11
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• pp.792-805
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• 2022

Repairing damaged DNA and removing all physical connections between sister chromosomes is important to ensure proper chromosomal segregation by contributing to chromosomal stability. Here, we show that the depletion of non-SMC condensin I complex subunit H (NCAPH) exacerbates chromosome segregation errors and cytokinesis failure owing to sister-chromatid intertwinement, which is distinct from the ultra-fine DNA bridges induced by DNA inter-strand crosslinks (DNA-ICLs). Importantly, we identified an interaction between NCAPH and GEN1 in the chromatin involving binding at the N-terminus of NCAPH. DNA-ICL activation, using ICL-inducing agents, increased the expression and interaction between NCAPH and GEN1 in the soluble nuclear and chromatin, indicating that the NCAPH-GEN1 interaction participates in repairing DNA damage. Moreover, NCAPH stabilizes GEN1 within chromatin at the G2/M-phase and is associated with DNA-ICL-induced damage repair. Therefore, NCAPH resolves DNA-ICL-induced ultra-fine DNA bridges by stabilizing GEN1 and ensures proper chromosome separation and chromosome structural stability.

• Neonatal Medicine
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• v.16 no.1
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• pp.76-80
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• 2009

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.n Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1 -->qter. Because Sp21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.29 no.2
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• pp.86-94
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• 2003

It has been known that transglutaminase C (TGase C, TGase II) is directly participated in the DNA organization of chromosome, and affects the cellular processes such as proliferation, differentiation, and apoptosis of cells, but still not known what mechanism is working on. In this study, the cytogenetic and the immunohistochemical methods were used to observe the TGase C expression in the nuclear chromosome of the proliferating cells, especially in mitotic stage. The human gastric adenocarcinoma (SNU-1) cell line was used for immunohistochemistry and antisense inhibition study in vitro. The present study was also aimed to disclose the efficiency of antisense inhibition by using antisense oligonucleotide DNA labeled with fluorescence, and found that anti-TGase C probe was diffusely infiltrated into the cytoplasm and the nucleus of the cell. By the antisense inhibition the nuclei of SNU-1 cells became rough nuclear shape, as they were greatly reduced in TGase C immunoreactivity both for the normal and apoptotic SNU-1 cells. However, it is clearly presumed that the TGase C directly interacts with the chromosome of SNU-1 cells and it may play an important role in the division and organization of the chromosome during the mitotic stage.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.16-21
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• 2014

A 31-year-old woman, who was pregnant with twins, underwent chorionic villus sampling because of increased nuchal translucency in one of the fetuses. Cytogenetic analysis showed a normal karyotype in the fetus with increased nuchal translucency. However, the other fetus, with normal nuchal translucency, had a derivative X chromosome (der(X)). For further analysis, fluorescence in situ hybridization (FISH) and additional molecular studies including fragile X analysis were performed. FISH analysis confirmed that the Y chromosome was the origin of extra segment of the der(X). The X-chromosome breakpoint was determined to be at Xq27 by FMR1 CGG repeat analysis, and the Y-chromosome breakpoint was determined to be at Yq11.23 by the Y chromosome microdeletion study. To predict the fetal outcome, the X-inactivation pattern was examined, and it revealed non-random X inactivation of the der(X). To the best of our knowledge, the identification of an unbalanced Xq;Yq translocation at prenatal diagnosis has never been reported. This study was performed to identify precise breakpoints and the X-inactivation pattern as well as to provide the parents with appropriate genetic counseling.