U.S. Department of Health and Human Services
Karen Usdin

 Contact Info

Tel: 301-496-2189
Email: karenu@helix.nih.gov

 Select Experience

  • Ph.D.University of Cape Town1986

 Related Links


    Karen Usdin, Ph.D.

    Senior Investigator, Laboratory of Cell and Molecular Biology, Office of the Chief
    •  Stem Cells/Induced Pluripotent Stem Cells
    • Chromosome Biology/Epigenetics
    • Genetics/Genomics
    • Molecular Biology/Biochemistry


    A selection of recent and significant publications can be viewed below.

    Adihe Lokanga R, Zhao XN, Entezam A, Usdin K. X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion. Hum Mol Genet. 2014 Sep 15; 23 (23; 2014 Sep 15; 18):4985-94. [Full Text/Abstract]
    Kumari D, Usdin K. Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription. Hum Mol Genet. 2014 Jul 23; 23 (23; 2014 Jul 23; 24):6575-83. [Full Text/Abstract]
    Yudkin D, Hayward BE, Aladjem MI, Kumari D, Usdin K. Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome. Hum Mol Genet. 2014 Jun 1; 23 (2014 Jun 1; 23; 11):2940-52. [Full Text/Abstract]
    Zhao XN, Usdin K. Gender and Cell-Type Specific Effects of the Transcription Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders. Hum Mutat. 2014 Mar; 35 (2014 Mar; 35; 3):341-9. [Full Text/Abstract]
    Lokanga RA, Zhao XN, Usdin K. The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model. Hum Mutat. 2014 Jan; 35 (35; 2014 Jan; 1):129-36. [Full Text/Abstract]
    Iliff AJ, Renoux AJ, Krans A, Usdin K, Sutton MA, Todd PK. Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Hum Mol Genet. 2013 Mar 15; 22 (2013 Mar 15; 6; 22):1180-92. [Full Text/Abstract]
    Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat. 2013 Jan; 34 (34; 1; 2013 Jan):157-66. [Full Text/Abstract]
    Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K. Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia. Biochim Biophys Acta. 2012 Jul; 1819 (7; 2012 Jul; 1819):802-10. [Full Text/Abstract]
    Hoffman GE, Le WW, Entezam A, Otsuka N, Tong ZB, Nelson L, Flaws JA, McDonald JH, Jafar S, Usdin K. Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency. J Histochem Cytochem. 2012 Jun; 60 (2012 Jun; 6; 60):439-56. [Full Text/Abstract]
    Kumari D, Usdin K. Is Friedreich ataxia an epigenetic disorder?. Clin Epigenetics. 2012 Jan 30; 4 (4; 2012 Jan 30; 1):2. [Full Text/Abstract]
    Qin M, Entezam A, Usdin K, Huang T, Liu ZH, Hoffman GE, Smith CB. A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis. Neurobiol Dis. 2011 Apr; 42 (2011 Apr; 42; 1):85-98. [Full Text/Abstract]
    Kumari D, Biacsi RE, Usdin K. Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells. J Biol Chem. 2011 Feb 11; 286 (6; 2011 Feb 11; 286):4209-15. [Full Text/Abstract]
    Kumari D, Usdin K. The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome. Hum Mol Genet. 2010 Dec 1; 19 (23; 19; 2010 Dec 1):4634-42. [Full Text/Abstract]
    Entezam A, Lokanga AR, Le W, Hoffman G, Usdin K. Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model. Hum Mutat. 2010 May; 31 (2010 May; 5; 31):611-6. [Full Text/Abstract]
    Entezam A, Usdin K. ATM and ATR protect the genome against two different types of tandem repeat instability in Fragile X premutation mice. Nucleic Acids Res. 2009 Oct; 37 (2009 Oct; 19; 37):6371-7. [Full Text/Abstract]
    Kumari D, Somma V, Nakamura AJ, Bonner WM, D'Ambrosio E, Usdin K. The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome. Nucleic Acids Res. 2009 Jul; 37 (37; 2009 Jul; 13):4385-92. [Full Text/Abstract]
    Usdin K. The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res. 2008 Jul; 18 (7; 2008 Jul; 18):1011-9. [Full Text/Abstract]
    Biacsi R, Kumari D, Usdin K. SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome. PLoS Genet. 2008 Mar 7; 4 (2008 Mar 7; 4; 3):e1000017. [Full Text/Abstract]
    Entezam A, Usdin K. ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice. Nucleic Acids Res. 2008 Feb; 36 (36; 3; 2008 Feb):1050-6. [Full Text/Abstract]
    Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K. Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. Gene. 2007 Jun 15; 395 (1-2; 395; 2007 Jun 15):125-34. [Full Text/Abstract]
    Greene E, Mahishi L, Entezam A, Kumari D, Usdin K. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res. 2007; 35 (35; 10; 2007):3383-90. [Full Text/Abstract]
    Mahishi L, Usdin K. NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2). Biochem J. 2006 Dec 1; 400 (2006 Dec 1; 2; 400):327-35. [Full Text/Abstract]
    Handa V, Yeh HJ, McPhie P, Usdin K. The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpins. J Biol Chem. 2005 Aug 12; 280 (280; 32; 2005 Aug 12):29340-5. [Full Text/Abstract]
    Handa V, Goldwater D, Stiles D, Cam M, Poy G, Kumari D, Usdin K. Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles. FEBS Lett. 2005 May 9; 579 (2005 May 9; 579; 12):2702-8. [Full Text/Abstract]
    Greene E, Entezam A, Kumari D, Usdin K. Ancient repeated DNA elements and the regulation of the human frataxin promoter. Genomics. 2005 Feb; 85 (85; 2005 Feb; 2):221-30. [Full Text/Abstract]
    Handa V, Saha T, Usdin K. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res. 2003 Nov 1; 31 (2003 Nov 1; 21; 31):6243-8. [Full Text/Abstract]