Karen Usdin, Ph.D.
Photo of Karen Usdin.
Scientific Focus Areas: Genetics and Genomics, Stem Cell Biology, Molecular Biology and Biochemistry, RNA Biology, Chromosome Biology


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

Select Publications

FAN1's protection against CGG repeat expansion requires its nuclease activity and is FANCD2-independent.
Zhao X, Lu H, Usdin K.
Nucleic Acids Res (2021 Nov 18) 49:11643-11652. Abstract/Full Text
All three mammalian MutL complexes are required for repeat expansion in a mouse cell model of the Fragile X-related disorders.
Miller CJ, Kim GY, Zhao X, Usdin K.
PLoS Genet (2020 Jun) 16:e1008902. Abstract/Full Text
A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.
Hayward BE, Steinbach PJ, Usdin K.
Nucleic Acids Res (2020 Aug 20) 48:7856-7863. Abstract/Full Text
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
van Kuilenburg ABP, Tarailo-Graovac M, Richmond PA, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM.
N Engl J Med (2019 Apr 11) 380:1433-1441. Abstract/Full Text
FAN1 protects against repeat expansions in a Fragile X mouse model.
Zhao XN, Usdin K.
DNA Repair (Amst) (2018 Sep) 69:1-5. Abstract/Full Text

Additional Publications

MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective.
Zhao X, Zhang Y, Wilkins K, Edelmann W, Usdin K.
PLoS Genet (2018 Oct) 14:e1007719. Abstract/Full Text
Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.
Hayward BE, Usdin K.
J Mol Diagn (2017 Nov) 19:828-835. Abstract/Full Text
Recent advances in assays for the fragile X-related disorders.
Hayward BE, Kumari D, Usdin K.
Hum Genet (2017 Oct) 136:1313-1327. Abstract/Full Text
Ups and Downs: Mechanisms of Repeat Instability in the Fragile X-Related Disorders.
Zhao XN, Usdin K.
Genes (Basel) (2016 Sep 21) 7. Abstract/Full Text
A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?
Zhao XN, Lokanga R, Allette K, Gazy I, Wu D, Usdin K.
PLoS Genet (2016 Jul) 12:e1006190. Abstract/Full Text
Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency.
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.
Mol Hum Reprod (2016 Jun) 22:384-96. Abstract/Full Text
Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders.
Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K.
Hum Mol Genet (2015 Dec 15) 24:7087-96. Abstract/Full Text
Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K.
Mutat Res (2015 Nov) 781:14-21. Abstract/Full Text
The Repeat Expansion Diseases: The dark side of DNA repair.
Zhao XN, Usdin K.
DNA Repair (Amst) (2015 Aug) 32:96-105. Abstract/Full Text
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.
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K.
Stem Cells Transl Med (2015 Jul) 4:800-8. Abstract/Full Text
Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders.
Usdin K, Kumari D.
Front Genet (2015) 6:192. Abstract/Full Text
Heterozygosity for a hypomorphic Polβ mutation reduces the expansion frequency in a mouse model of the Fragile X-related disorders.
Lokanga RA, Senejani AG, Sweasy JB, Usdin K.
PLoS Genet (2015 Apr) 11:e1005181. Abstract/Full Text
The transcription-coupled repair protein ERCC6/CSB also protects against repeat expansion in a mouse model of the fragile X premutation.
Zhao XN, Usdin K.
Hum Mutat (2015 Apr) 36:482-7. Abstract/Full Text
Repeat instability during DNA repair: Insights from model systems.
Usdin K, House NC, Freudenreich CH.
Crit Rev Biochem Mol Biol (2015 Mar-Apr) 50:142-67. Abstract/Full Text
Identification of fragile X syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs.
Kumari D, Bhattacharya A, Nadel J, Moulton K, Zeak NM, Glicksman A, Dobkin C, Brick DJ, Schwartz PH, Smith CB, Klann E, Usdin K.
Hum Mutat (2014 Dec) 35:1485-94. Abstract/Full Text
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.
Adihe Lokanga R, Zhao XN, Entezam A, Usdin K.
Hum Mol Genet (2014 Sep 15) 23:4985-94. Abstract/Full Text
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders.
Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN.
Front Genet (2014) 5:226. Abstract/Full Text
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
Yudkin D, Hayward BE, Aladjem MI, Kumari D, Usdin K.
Hum Mol Genet (2014 Jun 1) 23:2940-52. Abstract/Full Text
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.
Zhao XN, Usdin K.
Hum Mutat (2014 Mar) 35:341-9. Abstract/Full Text
The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model.
Lokanga RA, Zhao XN, Usdin K.
Hum Mutat (2014 Jan) 35:129-36. Abstract/Full Text
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome.
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.
J Neurodev Disord (2014) 6:25. Abstract/Full Text
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).
Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, Willemsen R, Usdin K.
J Neurodev Disord (2014) 6:26. Abstract/Full Text
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.
Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N.
J Neurodev Disord (2014) 6:23. Abstract/Full Text
Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice.
Iliff AJ, Renoux AJ, Krans A, Usdin K, Sutton MA, Todd PK.
Hum Mol Genet (2013 Mar 15) 22:1180-92. Abstract/Full Text
When secondary comes first--the importance of non-canonical DNA structures.
Saini N, Zhang Y, Usdin K, Lobachev KS.
Biochimie (2013 Feb) 95:117-23. Abstract/Full Text
Somatic expansion in mouse and human carriers of fragile X premutation alleles.
Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K.
Hum Mutat (2013 Jan) 34:157-66. Abstract/Full Text
Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia.
Kumari D, Lokanga R, Yudkin D, Zhao XN, Usdin K.
Biochim Biophys Acta (2012 Jul) 1819:802-10. Abstract/Full Text
Ovarian abnormalities in a mouse model of fragile X primary ovarian insufficiency.
Hoffman GE, Le WW, Entezam A, Otsuka N, Tong ZB, Nelson L, Flaws JA, McDonald JH, Jafar S, Usdin K.
J Histochem Cytochem (2012 Jun) 60:439-56. Abstract/Full Text
Is Friedreich ataxia an epigenetic disorder?
Kumari D, Usdin K.
Clin Epigenetics (2012 Jan 30) 4:2. Abstract/Full Text
A mouse model of the fragile X premutation: effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis.
Qin M, Entezam A, Usdin K, Huang T, Liu ZH, Hoffman GE, Smith CB.
Neurobiol Dis (2011 Apr) 42:85-98. Abstract/Full Text
Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cells.
Kumari D, Biacsi RE, Usdin K.
J Biol Chem (2011 Feb 11) 286:4209-15. Abstract/Full Text
The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
Kumari D, Usdin K.
Hum Mol Genet (2010 Dec 1) 19:4634-42. Abstract/Full Text
Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model.
Entezam A, Lokanga AR, Le W, Hoffman G, Usdin K.
Hum Mutat (2010 May) 31:611-6. Abstract/Full Text
Linear plasmid vector for cloning of repetitive or unstable sequences in Escherichia coli.
Godiska R, Mead D, Dhodda V, Wu C, Hochstein R, Karsi A, Usdin K, Entezam A, Ravin N.
Nucleic Acids Res (2010 Apr) 38:e88. Abstract/Full Text
The role of DNA damage response pathways in chromosome fragility in Fragile X syndrome.
Kumari D, Somma V, Nakamura AJ, Bonner WM, D'Ambrosio E, Usdin K.
Nucleic Acids Res (2009 Jul) 37:4385-92. Abstract/Full Text
Chromatin remodeling in the noncoding repeat expansion diseases.
Kumari D, Usdin K.
J Biol Chem (2009 Mar 20) 284:7413-7. Abstract/Full Text
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.
Usdin K.
Genome Res (2008 Jul) 18:1011-9. Abstract/Full Text
SIRT1 inhibition alleviates gene silencing in Fragile X mental retardation syndrome.
Biacsi R, Kumari D, Usdin K.
PLoS Genet (2008 Mar 7) 4:e1000017. Abstract/Full Text
ATR protects the genome against CGG.CCG-repeat expansion in Fragile X premutation mice.
Entezam A, Usdin K.
Nucleic Acids Res (2008 Feb) 36:1050-6. Abstract/Full Text
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.
Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K.
Gene (2007 Jun 15) 395:125-34. Abstract/Full Text
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia.
Greene E, Mahishi L, Entezam A, Kumari D, Usdin K.
Nucleic Acids Res (2007) 35:3383-90. Abstract/Full Text
NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2).
Mahishi L, Usdin K.
Biochem J (2006 Dec 1) 400:327-35. Abstract/Full Text
The AUUCU repeats responsible for spinocerebellar ataxia type 10 form unusual RNA hairpins.
Handa V, Yeh HJ, McPhie P, Usdin K.
J Biol Chem (2005 Aug 12) 280:29340-5. Abstract/Full Text
Long CGG-repeat tracts are toxic to human cells: implications for carriers of Fragile X premutation alleles.
Handa V, Goldwater D, Stiles D, Cam M, Poy G, Kumari D, Usdin K.
FEBS Lett (2005 May 9) 579:2702-8. Abstract/Full Text