• Dr. Jill Sergesketter Napierala obtained her Ph.D. in Biochemistry and Molecular Biology from Indiana University in the laboratory of Dr. David Skalnik. During her doctoral studies, she focused on defining interplay between histone modifying complexes and DNA cytosine methyltransferases. Dr. Napierala then joined the laboratory of Dr. Sharon Dent as a postdoctoral fellow at the University of Texas MD Anderson Cancer Center. Her work centered on post-translational mechanisms that regulate chromatin modifying enzyme activities in leukemia models. She has since joined the laboratory of Dr. Marek Napierala where their research program is devoted to defining molecular mechanisms underlying the neurodegenerative disorder, Friedreich’s ataxia (FRDA).
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2020 Defining Transcription Regulatory Elements in the Human Frataxin Gene: Implications for Gene TherapyHuman Gene Therapy.  31:839-851. 2020
    2020 Mitochondrial damage and senescence phenotype of cells derived from a novel frataxin G127V point mutation mouse model of Friedreich's ataxia 2020
    2019 Progress in understanding Friedreich’s ataxia using human induced pluripotent stem cellsExpert Opinion on Orphan Drugs.  7:81-90. 2019
    2019 The current state of biomarker research for Friedreich's ataxia: A report from the 2018 FARA biomarker meetingFuture Science OA.  5. 2019
    2017 Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers 2017
    2017 Selected missense mutations impair frataxin processing in Friedreich ataxiaAnnals of Clinical and Translational Neurology.  4:575-584. 2017
    2017 Low expression of ASH2L protein correlates with a favorable outcome in acute myeloid leukemia 2017
    2016 New reasons to pursue the therapeutic potential of synthetic nucleic acids for neurological diseasesJAMA Neurology.  73:1175-1177. 2016
    2016 Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia CellsCell Reports.  16:1218-1227. 2016
    2016 Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases - Friedreich's Ataxia ExampleBiopreservation and Biobanking.  14:324-329. 2016
    2015 Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locusHuman Molecular Genetics.  24:6932-6943. 2015
    2013 The role of chromatin modifiers in normal and malignant hematopoiesisBlood.  121:3076-3084. 2013
    2012 Histone-modifying enzymes: Regulators of developmental decisions and drivers of human diseaseEpigenomics.  4:163-177. 2012
    2011 Protein-arginine methyltransferase 1 (PRMT1) methylates Ash2L, a shared component of mammalian histone H3K4 methyltransferase complexesJournal of Biological Chemistry.  286:12234-12244. 2011
    2009 DNA methyltransferase protein synthesis is reduced in CXXC finger protein 1 deficient embryonic stem cells 2009
    2008 CFP1 interacts with DNMT1 independently of association with the Setd1 histone H3K4 methyltransferase complexes 2008
    2006 PAGE separation of hemi-methylated or unmethylated oligonucleotide substrates to distinguish between maintenance and de novo DNA methyltranferase activity 2006
    2004 Identification of a genomic fragment that directs hematopoietic-specific expression of Rac2 and analysis of the DNA methylation profile of the gene locusGene.  341:323-333. 2004

    Research Overview

  • Dr. Napierala's current research interests cover several aspects of FRDA molecular pathogenesis, including identification of gene expression biomarkers, defining the pathogenic impact of Frataxin point mutant proteins in cell and animal models, and determining the role of mitochondrial aldehyde dehydrogenases in mitigating oxidative stress in FRDA neuronal cell models.
  • Education And Training

  • University of Texas MD Anderson Cancer Center, Postdoctoral Fellowship
  • Doctor of Philosophy in Biochemistry, Indiana University-Purdue University Indianapolis 2007
  • Full Name

  • Jill Napierala