• Title/Summary/Keyword: core genome

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The nature of triple-negative breast cancer classification and antitumoral strategies

  • Kim, Songmi;Kim, Dong Hee;Lee, Wooseok;Lee, Yong-Moon;Choi, Song-Yi;Han, Kyudong
    • Genomics & Informatics
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    • v.18 no.4
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    • pp.35.1-35.7
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    • 2020

  • Identifying the patterns of gene expression in breast cancers is essential to understanding their pathophysiology and developing anticancer drugs. Breast cancer is a heterogeneous disease with different subtypes determined by distinct biological features. Luminal breast cancer is characterized by a relatively high expression of estrogen receptor (ER) and progesterone receptor (PR) genes, which are expressed in breast luminal cells. In ~25% of invasive breast cancers, human epidermal growth factor receptor 2 (HER2) is overexpressed; these cancers are categorized as the HER2 type. Triple-negative breast cancer (TNBC), in which the cancer cells do not express ER/PR or HER2, shows highly aggressive clinical outcomes. TNBC can be further classified into specific subtypes according to genomic mutations and cancer immunogenicity. Herein, we discuss the brief history of TNBC classification and its implications for promising treatments.

  • https://doi.org/10.5808/GI.2020.18.4.e35 인용 PDF KSCI

Genomic Susceptibility Analysis for Atopy Disease Using Cord Blood DNA in a Small Cohort

  • Koh, Eun Jung;Kim, Seung Jun;Ahn, Jeong Jin;Yang, Jungeun;Oh, Moon Ju;Hwang, Seung Yong
    • BioChip Journal
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    • v.12 no.4
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    • pp.304-308
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    • 2018

  • Atopic disease is caused by a complex combination of environmental factors and genetic factors, and studies on influence of exposure to various environmental factors on atopic diseases are continuously reported. However, the exact cause of atopic dermatitis is not yet known. Our study was conducted to analyse the association of SNPs with the development of atopic disease in a small cohort. Samples were collected from the Mothers' and Children's Environmental Health (MOCEH) study and 192 cord blood DNA samples were used to identify incidence of atopy due to influence of exposure to environmental factors. Genetic elements were analysed using a precision medicine research (PMR) array designed with various SNPs for personalized medicine. Case-control analysis of atopy disease revealed 253 significant variants (p<0.0001) and SNPs on five genes (CARD11, ZNF365, KIF3A, DMRTA1, and SFMBT1) were variants identified in previous atopic studies. These results are important to confirm the genetic mutation that may lead to the onset of foetal atopy due to maternal exposure to harmful environmental factors. Our results also suggest that a small-scale genome-wide association analysis is beneficial to confirm specific variants as direct factors in the development of atopy.

  • https://doi.org/10.1007/s13206-018-2410-1 인용 KSCI

Molecular and Functional Characterization of Monocot-specific Pex5p Splicing Variants, Using OsPex5pL and OsPex5pS from Rice (Oryza sativa)

  • Lee, Jung Ro;Jung, Ji Hyun;Kang, Jae Sook;Kim, Jong Cheol;Jung, In Jung;Seok, Min Sook;Kim, Ji Hye;Kim, Woe Yeon;Kim, Min Gab;Kim, Jae-Yean;Lim, Chae Oh;Lee, Kyun Oh;Lee, Sang Yeol
    • Molecules and Cells
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    • v.23 no.2
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    • pp.161-169
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    • 2007

  • We identified two alternatively spliced variants of the peroxisomal targeting signal 1 (PTS1) receptor protein Pex5ps in monocot (rice, wheat, and barley) but not in dicot (Arabidopsis and tobacco) plants. We characterized the molecular and functional differences between the rice (Oryza sativa) Pex5 splicing variants OsPex5pL and OsPex5pS. There is only a single-copy of OsPEX5 in the rice genome and RT-PCR analysis points to alternative splicing of the transcripts. Putative light-responsive cis-elements were identified in the 5' region flanking OsPEX5L and Northern blot analysis demonstrated that this region affected light-dependent expression of OsPEX5 transcription. Using the pex5-deficient yeast mutant Scpex5, we showed that OsPex5pL and OsPex5pS are able to restore translocation of a model PTS1 protein (GFP-SKL) into peroxisomes. OsPex5pL and OsPex5pS formed homo-complexes via specific interaction domains, and interacted with each other and OsPex14p to form hetero-complexes. Although overexpression of OsPex5pL in the Arabidopsis pex5 mutant (Atpex5) rescued the mutant phenotype, overexpression of OsPex5pS only resulted in partial recovery.

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