• Dr. Erin (Eun-Young) Ahn received her BS and MS from Seoul National University in South Korea, and then her Ph.D. from the Department of Pathology (Molecular & Cellular Pathology Graduate Program) at the University of Alabama at Birmingham (UAB) under the mentorship of Dr. Jay McDonald. After her graduate study, she moved to San Diego, California and completed her postdoctoral training in the laboratory of Dr. Dong-Er Zhang at the Scripps Research Institute and UC San Diego Moores Cancer Center. In July 2012, she started her Assistant Professor position at the University of South Alabama, Mitchell Cancer Institute where she was promoted to Associate Professor with tenure in 2016. In February 2020, she was recruited to the Department of Pathology, Division of Molecular Cellular Pathology at UAB.

    Dr. Ahn’s research interest is to understand the molecular mechanisms of abnormal gene expression associated with cancer and neurodevelopmental disorders. Particularly, her current research focuses include dissecting the roles of various transcription factors, splicing factors, RNA-binding proteins and noncoding RNAs in gene transcription and alternative RNA splicing, and how dysregulations of these processes play causative roles in leukemia, glioblastoma and neurodevelopmental disorders.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2022 Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONEuropean Journal of Human Genetics.  30:271-281. 2022
    2022 FAK in the nucleus prevents VSMC proliferation by promoting p27 and p21 expression via Skp2 degradationCardioscience.  118:1150-1163. 2022
    2021 Fak activation promotes smc dedifferentiation via increased dna methylation in contractile genesCirculation Research.  129:E215-E233. 2021
    2021 SON drives oncogenic RNA splicing in glioblastoma by regulating PTBP1/PTBP2 switching and RBFOX2 activityNature Communications.  12. 2021
    2021 SON inhibits megakaryocytic differentiation via repressing RUNX1 and the megakaryocytic gene expression program in acute megakaryoblastic leukemiaCancer Gene Therapy.  28:1000-1015. 2021
    2021 Focal Adhesion Kinase Activity and Localization is Critical for TNF-α-Induced Nuclear Factor-κB ActivationInflammation.  44:1130-1144. 2021
    2021 Son is necessary for proper vertebrate blood developmentPLoS One.  16. 2021
    2021 eNEMAL, an enhancer RNA transcribed from a distal MALAT1 enhancer, promotes NEAT1 long isoform expression.PLoS One.  16:e0251515. 2021
    2020 Targeting focal adhesion kinase in cancer cells and the tumor microenvironmentExperimental and Molecular Medicine.  52:877-886. 2020
    2019 FAK and Pyk2 activity promote TNF-α and IL-1β-mediated pro-inflammatory gene expression and vascular inflammationScientific Reports.  9. 2019
    2019 Hypoxia induces cancer cell-specific chromatin interactions and increases MALAT1 expression in breast cancer cellsJournal of Biological Chemistry.  294:11213-11224. 2019
    2019 SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypesKidney International.  95:1494-1504. 2019
    2019 FAK inhibition reduces metastasis of α4 integrin-expressing melanoma to lymph nodes by targeting lymphatic VCAM-1 expressionBiochemical and Biophysical Research Communications.  509:1034-1040. 2019
    2019 Molecular Mechanism of Inhibition of Acid Ceramidase by Carmofur.Journal of Medicinal Chemistry.  62:987-992. 2019
    2019 Nuclear focal adhesion kinase controls vascular smooth muscle cell proliferation and neointimal hyperplasia through GATA4-mediated cyclin D1 transcriptionCirculation Research.  125:152-166. 2019
    2018 Irradiation of pediatric glioblastoma cells promotes radioresistance and enhances glioma malignancy via genome-wide transcriptome changes.Oncotarget.  9:34122-34131. 2018
    2018 DNA Repair Molecular Beacon assay: a platform for real-time functional analysis of cellular DNA repair capacity.Oncotarget.  9:31719-31743. 2018
    2018 Identification of radiation responsive genes and transcriptome profiling via complete RNA sequencing in a stable radioresistant U87 glioblastoma model.Oncotarget.  9:23532-23542. 2018
    2016 miR-125b regulates differentiation and metabolic reprogramming of T cell acute lymphoblastic leukemia by directly targeting A20.Oncotarget.  7:78667-78679. 2016
    2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability SyndromeAmerican Journal of Human Genetics.  99:711-719. 2016
    2016 SON and Its Alternatively Spliced Isoforms Control MLL Complex-Mediated H3K4me3 and Transcription of Leukemia-Associated GenesMolecular Cell.  61:859-873. 2016
    2015 ErbB2-intronic MicroRNA-4728: A novel tumor suppressor and antagonist of oncogenic MAPK signalingCell Death and Disease.  6. 2015
    2014 Transcript variants of RUNX1T1: new insight into t(8;21)-positive leukemia.Leukemia Research.  38:1018-1019. 2014
    2014 New discoveries of old SON: a link between RNA splicing and cancer.Journal of Cellular Biochemistry.  115:224-231. 2014
    2013 Attenuation of AML1-ETO cellular dysregulation correlates with increased leukemogenic potential.Blood.  121:3714-3717. 2013
    2013 Heat shock factor 1 (HSF1) controls chemoresistance and autophagy through transcriptional regulation of autophagy-related protein 7 (ATG7).Journal of Biological Chemistry.  288:9165-9176. 2013
    2013 SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.Journal of Biological Chemistry.  288:5381-5388. 2013
    2012 Combined gene expression and DNA occupancy profiling identifies potential therapeutic targets of t(8;21) AML.Blood.  120:1473-1484. 2012
    2012 Negative effects of GM-CSF signaling in a murine model of t(8;21)-induced leukemia.Blood.  119:3155-3163. 2012
    2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.Molecular Cell.  42:185-198. 2011
    2009 Molecular mechanisms of tamoxifen therapy for cholangiocarcinoma: Role of calmodulinClinical Cancer Research.  15:1288-1296. 2009
    2009 RUNX1/AML1 DNA-binding domain and ETO/MTG8 NHR2-dimerization domain are critical to AML1-ETO9a leukemogenesis.Blood.  113:883-886. 2009
    2008 Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis. 2008

    Research Overview

  • • SON-mediated RNA splicing and epigenetic regulation of transcription in normal hematopoiesis and leukemia
    • RNA-binding proteins, alternative RNA splicing, and RNA modifications in glioblastoma
    • SON-mediated gene expression and its roles in human neurodevelopmental disorders
    (ZTTK syndrome; OMIM #617140; https://www.omim.org/entry/617140
    Our team identified the syndrome for the first time)
    • Characterization and documentation of clinical features of ZTTK syndrome, a rare genetic disease (neurological features, congenital anomalies, hematopoiesis, and metabolism)
    • Long-range 3-dimensional chromatin interactions in normal and cancer cells
    • Discovering novel functions of non-coding RNAs in hematopoiesis and cancer pathogenesis
  • Teaching Overview

  • GBSC 716 RNA Splicing and Human Diseases (Course Director)
    GBSC 710 Advanced Chromatin Biology (Participating instructor)
    GBSC 707 Basic Biochemistry / Metabolism (Participating instructor)
    GBS 757 Biology of Disease (Participating instructor)
    GBSC 721 Special Topics in Brain Tumor Biology (Participating instructor)
  • Education And Training

  • Doctor of Philosophy in Medical Pathology, University of Alabama at Birmingham 2003
  • Master's Level Degree in Medical Basic Sciences/Other, Seoul National University 1998
  • Full Name

  • Erin Eun-Young Ahn