• Title/Summary/Keyword: X Inactivation

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X-Chromosome Inactivation: A Complex Circuits regulated by Non-coding RNAs and Pluripotent Factors

  • Hwang, Jae Yeon;Lee, Chang-Kyu
    • Reproductive and Developmental Biology
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    • v.41 no.2
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    • pp.33-40
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    • 2017
  • X-chromosome inactivation is one of the most complex events observed in early embryo developments. The epigenetic changes occurred in female X-chromosome is essential to compensate dosages of X-linked genes between males and females. Because of the relevance of the epigenetic process to the normal embryo developments and stem cell studies, X-chromosome inactivation has been focused intensively for last 10 years. Initiation and regulation of the process is managed by diverse factors. Especially, proteins and non-coding RNAs encoded in X-chromosome inactivation center, and a couple of transcription factors have been reported to regulate the event. In this review, we introduce the reported factors, and how they regulate epigenetic inactivation of X-chromosomes.

Study on the inactivation of intracellular enzyme mlecules by X-ray irradiation (X-선조사(線照射)에 의한 세포내효소분자(細胞內酵素分子)의 불활성화(不活性化)에 관한 연구(硏究))

  • Lee, Sang-Bok
    • Journal of Radiation Protection and Research
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    • v.2 no.1
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    • pp.31-37
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    • 1977
  • Inactivation of the glutamic acid dehydrogenase and glucose-6-phosphate dehydrogenase enzyme-molecules in the Ehrlich ascites tumor cells of the mouse were studied. The above mentioned intracellular enzymemolecules were irradiated by the X-ray radiation under the condition of 65 kV, I Amp. under the atmosphere of nitrogen gases and by $4^{\circ}C$. Thereby, irradiation doses were 580 KR/min($error:{\pm}3%$). After irradiation, the cell homogentes were prepared through liquid air techniquese. There after, the activities of the enzymes were measured with photometric method given by O. Warburg and W. Christian. The dose effect curves of the activities of the two enzymes by the X-ray irradiation showed both exponential and the inactivation doses were $6,5.10^{0}\;and\;5,0.10^{6}$ R respectively. These results showed one side that the inactivation process of the intracelluar enzymemolecules was one hit reaction after target theory, and the other side that this inactivation process could not be the primary causes of the death through X-ray irradiation of the vertebrate animals, because of the high resistance of the intracellular protein molecules against X-ray irradiation. The one hit reaction by the inactivation process of the irradiated intracellular enzymemolecules was discussed.

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Beyond X-Chromosome Inactivation: The Oncogenic Facet of XIST in Human Cancers

  • Madhi, Hamadi;Kim, Myoung Hee
    • Biomedical Science Letters
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    • v.25 no.2
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    • pp.113-122
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    • 2019
  • Long-non coding RNAs (LncRNAs) constitute a wide and extremely diverse family of RNA transcripts that are greater than 200 base pairs in length and are not translated into proteins. X-inactive specific transcript (XIST) was the first long non-coding RNA to be discovered, back in 1991. Its function in X-chromosome inactivation has been extensively studied for three decades, though other functional roles of XIST that involve a variety of fascinating mechanisms remain to be elucidated. Here, we review the emerging oncogenic role of XIST in various human cancers.

Inactivation of various bacteriophages by different ultraviolet technologies: Development of a reliable virus indicator system for water reuse

  • Bae, Kyung Seon;Shin, Gwy-Am
    • Environmental Engineering Research
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    • v.21 no.4
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    • pp.350-354
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    • 2016
  • There is an urgent need to identify more reliable indicator systems for human pathogenic viruses in water reuse practice. In this study, we determined the response of different bacteriophages representing various bacteriophage groups to different ultraviolet (UV) technologies in real wastewater in order to identify more reliable bacteriophage indicator systems for UV disinfection in wastewater. Bacteriophage ${\varphi}X174$ PRD1, and MS2 in two different real wastewaters were irradiated with several doses of both low pressure (LP) and medium pressure (MP) UV irradiation through bench-scale UV collimated apparatus. The inactivation rate of ${\varphi}X174$ by both LP and MP UV was rapid and reached ${\sim}4{\log}_{10}$ within a UV dose of $20mJ/cm^2$. However, the inactivation rates of bacteriophage PRD1 and MS2 were much slower than the one for ${\varphi}X174$ and only ${\sim}1{\log}_{10}$ inactivation was achieved by the same UV dose of $20mJ/cm^2$. Overall, the results of this study suggest that bacteriophage MS2 could be a reliable indicator for human pathogenic viruses for both LP and MP UV disinfection in wastewater treatment processes and water reuse practice.

Characterization of a prenatally diagnosed de novo der(X)t(X;Y)(q27;q11.23) of fetus

  • Park, Sang Hee;Shim, Sung Han;Jung, Yong Wook;Kim, Da Hee;Kang, Su Jin;Park, Sun Ok;Cha, Dong Hyun
    • 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.

Change of X Chromosome Status during Development and Reprogramming

  • Jung, Yong-Wook;Park, In-Hyun
    • Development and Reproduction
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    • v.15 no.3
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    • pp.187-195
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    • 2011
  • X chromosome inactivation (XCI) is a process that enables mammalian females to ensure the dosage compensation for X-linked genes. Investigating the mechanism of XCI might provide deeper understandings of chromosomal silencing, epigenetic regulation of gene expressions, and even the course of evolution. Studies on mammalian XCI conducted with mice have revealed many fundamental findings on XCI. However, difference of murine and human XCI necessitates the further investigation in human XCI. Recent success in reprogramming of differentiated cells into pluripotent stem cells showed the reversibility of XCI in vitro, X chromosome reactivation (XCR), which provides another tool to study the change in X chromosome status. This review summarizes the current knowledge of XCI during early embryonic development and describes recent achievements in studies of XCI in reprogramming process.

Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

  • Kim, Bo Ram;Kim, Rina;Cho, Angela;Kang, Hye Sim;Park, Chul Min;Kim, Sung Yob;Shim, Soon Sup
    • Journal of Genetic Medicine
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    • v.18 no.2
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    • pp.117-120
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    • 2021
  • We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports of prenatal diagnosis of Xq deletion. In each female cell, one X chromosome is inactivated at random early in development, and there may be a preferential inactivation of the abnormal X chromosome. But some proportions of genes escape inactivation. The most common manifestation in women with Xq deletion is primary or secondary ovarian failure. Critical regions for ovarian function may be located at the long arm of the X chromosome. But, the onset and the severity of ovarian failure may vary with diverse, intricate factors. We anticipate that noninvasive prenatal screening can identify the broader range of chromosomal or genetic abnormalities with the advances in technology and analytic methods. We report our case with a brief review of the literature.

The Study of X Chromosome Inactivation Mechanism in Klinefelter's Syndrome by cDNA Microarray Experiment

  • Jeong, Yu-Mi;Chung, In-Hyuk;Park, Jung Hoon;Lee, Sook-Hwan;Chung, Tae-Gyu;Kim, Yong Sung;Kim, Nam-Soon;Yoo, Hyang-Sook;Lee, Suman
    • Genomics & Informatics
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    • v.2 no.1
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    • pp.30-35
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    • 2004
  • To investigate the XIST gene expression and its effect in a Klinefelter's patient, we used Klinefelter's syndrome (XXY) patient with azoospermia and also used a normal male (XY) and a normal female (XX) as the control, We were performed cytogenetic analysis, Y chromosomal microdeletion assay (Yq), semi-quantitative RT-PCR, and the Northern blot for Klinefelter's syndrome (KS) patient, a female and a male control, We extracted total RNA from the KS patient, and from the normal cells of the female and male control subjects using the RNA prep kit (Qiagen), cDNA microarray contained 218 human X chromosome-specific genes was fabricated. Each total RNA was reverse transcribed to the first strand cDNA and was labeled with Cy-3 and Cy-5 fluorescein, The microarray was scanned by ScanArray 4000XL system. XIST transcripts were detected from the Klinefelters patient and the female by RT-PCR and Northern blot analysis, but not from the normal male, In the cDNA microarray experiment, we found 24 genes and 14 genes are highly expressed in KS more than the normal male and females, respectively. We concluded that highly expressed genes in KS may be a resulted of the abnormal X inactivation mechanism.

Inactivation of various bacteriophages in wastewater by chlorination; Development of more reliable bacteriophage indicator systems for water reuse (하수 처리 과정의 염소 소독에 대한 여러 박테리오파지들의 저항성 평가; 물 재이용 과정의 안전성 관리를 위한 바이러스 지표미생물의 개발)

  • Bae, Kyung-Seon;Shin, Gwy-Am
    • Journal of Korean Society of Water and Wastewater
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    • v.30 no.3
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    • pp.285-291
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    • 2016
  • There has been an accelerating increase in water reuse due to growing world population, rapid urbanization, and increasing scarcity of water resources. However, it is well recognized that water reuse practice is associated with many human health and ecological risks due to numerous chemicals and pathogenic microorganisms. Especially, the potential transmission of infectious disease by hundreds of pathogenic viruses in wastewater is one of the most serious human health risks associated with water reuse. In this study, we determined the response of different bacteriophages representing various bacteriophage groups to chlorination in real wastewater in order to identify a more reliable bacteriophage indicator system for chlorination in wastewater. Different bacteriophages were spiked into secondary effluents from wastewater plants from three different geographic areas, and then subjected to various doses of free chlorine and contact time at $5^{\circ}C$ in a bench-scale batch disinfection system. The inactivation of ${\phi}X174$ was relatively rapid and reached ~4 log10 with a CT value of 5 mg/L*min. On the other hand, the inactivation of bacteriophage PRD1 and MS2 were much slower than the one for ${\phi}X174$ and only ~1 log10 inactivation was achieved by a CT value of 10 mg/L*min. Overall, the results of this study suggest that bacteriophage both MS2 and PRD1 could be a reliable indicator for human pathogenic viruses for chlorination in wastewater treatment processes and water reuse practice.