• 제목/요약/키워드: human genetics

검색결과 551건 처리시간 0.032초

Multiplex RT-PCR Assay for Detection of Common Fusion Transcripts in Acute Lymphoblastic Leukemia and Chronic Myeloid Leukemia Cases

  • Limsuwanachot, Nittaya;Siriboonpiputtana, Teerapong;Karntisawiwat, Kanlaya;Chareonsirisuthigul, Takol;Chuncharunee, Suporn;Rerkamnuaychoke, Budsaba
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권2호
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    • pp.677-684
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    • 2016
  • Background: Acute lymphoblastic leukemia (ALL) is a heterogeneous disease which requires a risk-stratified approach for appropriate treatment. Specific chromosomal translocations within leukemic blasts are important prognostic factors that allow identification of relevant subgroups. In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A-PBX1). Materials and Methods: A total of 214 diagnosed ALL samples from both adult and pediatric ALL and 14 cases of CML patients (154 bone marrow and 74 peripheral blood samples) were assessed for specific chromosomal translocations by cytogenetic and multiplex RT-PCR assays. Results: The results showed that 46 cases of ALL and CML (20.2%) contained the fusion transcripts. Within the positive ALL patients, the most prevalent cryptic translocation observed was mBCR-ABL (p190) at 8.41%. In addition, other genetic rearrangements detected by the multiplex PCR were 4.21% TEL-AML1 and 2.34% E2A-PBX1, whereas MLL-AF4 exhibited negative results in all tested samples. Moreover, MBCR-ABL was detected in all 14 CML samples. In 16 samples of normal karyotype ALL (n=9), ALL with no cytogentic result (n=4) and CML with no Philadelphia chromosome (n=3), fusion transcripts were detected. Conclusions: Multiplex RT-PCR provides a rapid, simple and highly sensitive method to detect fusion transcripts for prognostic and risk stratification of ALL and CML patients.

Cyclic AMP response element binding (CREB) protein acts as a positive regulator of SOX3 gene expression in NT2/D1 cells

  • Kovacevic-Grujicic, Natasa;Mojsin, Marija;Popovic, Jelena;Petrovic, Isidora;Topalovic, Vladanka;Stevanovic, Milena
    • BMB Reports
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    • 제47권4호
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    • pp.197-202
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    • 2014
  • SOX3 is one of the earliest neural markers in vertebrates, playing the role in specifying neuronal fate. In this study we have established first functional link between CREB and human SOX3 gene which both have important roles in the nervous system throughout development and in the adulthood. Here we demonstrate both in vitro and in vivo that CREB binds to CRE half-site located -195 to -191 within the human SOX3 promoter. Overexpression studies with CREB or its dominant-negative inhibitor A-CREB indicate that this transcription factor acts as a positive regulator of basal SOX3 gene expression in NT2/D1 cells. This is further confirmed by mutational analysis where mutation of CREB binding site results in reduction of SOX3 promoter activity. Our results point at CREB as a positive regulator of SOX3 gene transcription in NT2/D1 cells, while its contribution to RA induction of SOX3 promoter is not prominent.

Substantial Evidences Indicate That Inorganic Arsenic Is a Genotoxic Carcinogen: a Review

  • Roy, Jinia Sinha;Chatterjee, Debmita;Das, Nandana;Giri, Ashok K.
    • Toxicological Research
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    • 제34권4호
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    • pp.311-324
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    • 2018
  • Arsenic is one of the most toxic environmental toxicants. More than 150 million people worldwide are exposed to arsenic through ground water contamination. It is an exclusive human carcinogen. Although the hallmarks of arsenic toxicity are skin lesions and skin cancers, arsenic can also induce cancers in the lung, liver, kidney, urinary bladder, and other internal organs. Arsenic is a non-mutagenic compound but can induce significant cytogenetic damage as measured by chromosomal aberrations, sister chromatid exchanges, and micronuclei formation in human systems. These genotoxic end points are extensively used to predict genotoxic potentials of different environmental chemicals, drugs, pesticides, and insecticides. These cytogenetic end points are also used for evaluating cancer risk. Here, by critically reviewing and analyzing the existing literature, we conclude that inorganic arsenic is a genotoxic carcinogen.

The Soluble Expression of the Human Renin Binding Protein Using Fusion Partners: A Comparison of ubquitin, Thioredoxin, Maltose Binding Protein-and NusA

  • Lee, Chung;Lee, Sun-Gu;Saori Takahashi;Kim, Byung-Gee
    • Biotechnology and Bioprocess Engineering:BBE
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    • 제8권2호
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    • pp.89-93
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    • 2003
  • human renin binding protein (hRnBp), showing N-acetylglucosamine-2-epimerase activity, was over-expressed in E. coli, but was mainly present as an inclusion body. To improve its solubility and activity, ubiquitin (Ub), thioredoxin (Trx), maltose binding protein (MBP) and NusA, were used as fusion partners. The comparative solubilities of the fusion proteins were, from most to least soluble: NusA, MBP, Trx, Ub. Only the MBP fusion did not significantly reduce the activity of hRnBp, but enhanced the stability. The Origami (DE3), permitting a more oxidative environment for the cytoplasm in E. coli; helped to increase its functional activity.

CELL CYCLE ARREST AND INDUCTION OF APOPTOSIS BY NOVEL CDK INHIBITOR IS ASSOCIATED WITH $p161^{NK4A}$ UP-REGULATION IN HUMAN PROMYELOCYTIC LEUKEMIA CELLS

  • Park, Bu-Young;Kim, Min-Kyoung;Kim, Hak-Yup;Cho, Youl-Hee;Lee, Chul-Hoon
    • 한국독성학회:학술대회논문집
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    • 한국독성학회 2001년도 International Symposium on Dietary and Medicinal Antimutgens and Anticarcinogens
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    • pp.151-152
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    • 2001
  • MCS-5A, novel Cdk inhibitor, has been reported that it has exerted cell cycle arrest action and apoptotic effect to the human promyelocytic leukemias cell. The purpose of this study is to verify these effects of MCS-5A on human promyelocytic leukemia (HL-60) cells and to clarify the action of mechanism on MCS-5A-inducing apoptosis.(omitted)

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Progress, challenges, and future perspectives in genetic researches of stuttering

  • Kang, Changsoo
    • Journal of Genetic Medicine
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    • 제18권2호
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    • pp.75-82
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    • 2021
  • Speech and language functions are highly cognitive and human-specific features. The underlying causes of normal speech and language function are believed to reside in the human brain. Developmental persistent stuttering, a speech and language disorder, has been regarded as the most challenging disorder in determining genetic causes because of the high percentage of spontaneous recovery in stutters. This mysterious characteristic hinders speech pathologists from discriminating recovered stutters from completely normal individuals. Over the last several decades, several genetic approaches have been used to identify the genetic causes of stuttering, and remarkable progress has been made in genome-wide linkage analysis followed by gene sequencing. So far, four genes, namely GNPTAB, GNPTG, NAGPA, and AP4E1, are known to cause stuttering. Furthermore, thegeneration of mouse models of stuttering and morphometry analysis has created new ways for researchers to identify brain regions that participate in human speech function and to understand the neuropathology of stuttering. In this review, we aimed to investigate previous progress, challenges, and future perspectives in understanding the genetics and neuropathology underlying persistent developmental stuttering.