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 Town1985
 

 Related Links

 
Specialties
  • Chromosome Biology/Epigenetics
  • Genetics/Genomics
  • Molecular Biology/Biochemistry
  • Stem Cells/Induced Pluripotent Stem Cells

​Publications

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

Publications
Hayward BE, Zhou Y, Kumari D, Usdin K. A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders. J Mol Diagn. 2016 Aug 8; 18 (2016 Aug 8; 5; 18):762-74. [Full Text/Abstract]
Kumari D, Usdin K. Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. Hum Mol Genet. 2016 Jul 4; (2016 Jul 4). [Full Text/Abstract]
Zhao XN, Lokanga R, Allette K, Gazy I, Wu D, Usdin K. A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?. PLoS Genet. 2016 Jul; 12 (2016 Jul; 7; 12):e1006190. [Full Text/Abstract]
Conca Dioguardi C, Uslu B, Haynes M, Kurus M, Gul M, Miao DQ, De Santis L, Ferrari M, Bellone S, Santin A, Giulivi C, Hoffman G, Usdin K, Johnson J. Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency. Mol Hum Reprod. 2016 Mar 9; 22 (6; 2016 Mar 9; 22):384-96. [Full Text/Abstract]
Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K. Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders. Hum Mol Genet. 2015 Sep 29; 24 (2015 Sep 29; 24):7087-96. [Full Text/Abstract]
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K. Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. Mutat Res. 2015 Aug 30; 781 (2015 Aug 30; 781):14-21. [Full Text/Abstract]
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K. High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells. Stem Cells Transl Med. 2015 May 21; 4 (7; 4; 2015 May 21):800-8. [Full Text/Abstract]
Zhao XN, Usdin K. The Repeat Expansion Diseases: The dark side of DNA repair. DNA Repair (Amst). 2015 Apr 30; 32 (32; 2015 Apr 30):96-105. [Full Text/Abstract]
Lokanga RA, Senejani AG, Sweasy JB, Usdin K. Heterozygosity for a hypomorphic polβ mutation reduces the expansion frequency in a mouse model of the fragile x-related disorders. PLoS Genet. 2015 Apr; 11 (2015 Apr; 4; 11):e1005181. [Full Text/Abstract]
Zhao XN, Usdin K. The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation. Hum Mutat. 2015 Feb 27; 36 (4; 36; 2015 Feb 27):482-7. [Full Text/Abstract]
Usdin K, House NC, Freudenreich CH. Repeat instability during DNA repair: Insights from model systems. Crit Rev Biochem Mol Biol. 2015 Jan 22; 50 (2015 Jan 22; 2; 50):1-26. [Full Text/Abstract]
Usdin K, Kumari D. Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders. Front Genet. 2015; 6 (2015; 6):192. [Full Text/Abstract]
Kumari D, Bhattacharya A, Nadel J, Moulton K, Zeak NM, Glicksman A, Dobkin C, Brick DJ, Schwartz PH, Smith CB, Klann E, Usdin K. Identification of fragile x syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs. Hum Mutat. 2014 Sep 16; 35 (35; 2014 Sep 16; 12):1485-94. [Full Text/Abstract]
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]
Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet. 2014; 5 (2014; 5):226. [Full Text/Abstract]
Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014; 6 (6; 2014; 1):23. [Full Text/Abstract]
Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK. Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014; 6 (6; 2014; 1):25. [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]